All about Spina Bifida:
Definition
7 Types
Causes
Health Status
Incidence and epidemiology
Prevention
Social impact
Management
Detection
Diagnosis
Treatment
Antibiotics
Careful observation
Physical therapy
Ataxia is a lack of muscle coordination that can be caused by cerebellar, sensory or vestibular dysfunction. Signs of cerebellar disorders include ataxia, decomposition of movement, dysarthria, dysdiadochokinesia, dysmetria, hypotonia, nystagmus, scanning speech, and intention tremor. Causes include hereditary conditions like spinocerebellar ataxia or Friedreich's ataxia, congenital malformations, degenerative conditions, tumors, systemic issues, drugs, and toxins. Management involves clinical diagnosis plus MRI imaging and supportive care as well as treating any underlying causes if present.
This document discusses the internal capsule, which carries motor and sensory fibers between the brain and spinal cord. It notes that lesions in different parts of the internal capsule can cause weakness or sensory loss on the contralateral side of the body. Small vessel disease from hypertension is a common cause of lesions in the internal capsule. Symptoms may include hemiparesis, hemiplegia, sensory loss, and upper motor neuron signs like spasticity, depending on the location of the lesion within the internal capsule.
Posterior circulation strokes can be differentiated from anterior circulation strokes based on clinical features. Posterior circulation strokes often present with vertigo, unsteadiness, crossed hemiplegia, bilateral deficits, cerebellar signs, ocular findings, dissociated sensory loss, and Horner's syndrome. The vertebrobasilar system supplies structures such as the cerebellum, medulla, pons, midbrain, thalamus, and occipital and temporal lobes. Common syndromes include lateral medullary syndrome and superior cerebellar artery occlusion. Infarctions in different vascular territories can produce characteristic clinical deficits.
This document discusses various syndromes that can result from strokes in different areas of the brainstem. It begins with an overview of brainstem anatomy and blood supply. It then describes in detail the clinical presentations of medial and lateral midbrain syndromes, various pontine syndromes including medial and lateral inferior pontine syndromes, and medial and lateral medullary syndromes. Case examples are provided to illustrate the different neurological deficits that can occur based on the location of the brainstem stroke.
This document discusses facial nerve paralysis, including:
- The anatomy of the facial nerve and branches that innervate facial muscles.
- Common causes of facial nerve paralysis like Bell's palsy.
- Evaluating facial nerve paralysis through examining facial muscles, taste sensation, lacrimation, and nerve conduction velocity.
- Treating facial nerve paralysis with physical therapy including heat, electrotherapy, exercises and occasionally splinting.
Meningomyelocoele is the most severe type of spina bifida where the meninges and spinal cord protrude through an opening in the spine. It occurs due to failure of the neural tube to close during the third week of gestation. Symptoms include paralysis of the lower limbs, bladder and bowel dysfunction, and cognitive impairments. Treatment requires multidisciplinary care and focuses on preventing infections, promoting urinary function, and managing complications through surgery, medications, bracing and rehabilitation.
Radial, ulnar, median nerve injury.pptxPradeep Pande
The document provides tips for using a PowerPoint presentation. It recommends:
1) Editing and modifying slides freely by adding your name.
2) Noting that half the slides are blank except for the title to encourage active learning.
3) Showing blank slides first to elicit student responses before presenting content.
4) Repeating this process of blank slide then content slide at the end for reinforcement.
5) This approach facilitates active learning through multiple revisions.
This document compares the differences between upper motor neuron (UMN) lesions and lower motor neuron (LMN) lesions. UMN lesions involve the pyramidal and extrapyramidal descending tracts and occur due to conditions like vascular accidents or space occupying lesions. They result in increased muscle tone, no loss of power, exaggerated reflexes, a positive Babinski's sign, presence of clonus, and spastic paralysis. LMN lesions involve motor neurons in the spinal cord or cranial nerve nuclei and occur due to conditions like poliomyelitis. They result in lost muscle tone, loss of power, lost reflexes, a negative Babinski's sign, absence of clonus, and flaccid paralysis.
Ataxia is a lack of muscle coordination that can be caused by cerebellar, sensory or vestibular dysfunction. Signs of cerebellar disorders include ataxia, decomposition of movement, dysarthria, dysdiadochokinesia, dysmetria, hypotonia, nystagmus, scanning speech, and intention tremor. Causes include hereditary conditions like spinocerebellar ataxia or Friedreich's ataxia, congenital malformations, degenerative conditions, tumors, systemic issues, drugs, and toxins. Management involves clinical diagnosis plus MRI imaging and supportive care as well as treating any underlying causes if present.
This document discusses the internal capsule, which carries motor and sensory fibers between the brain and spinal cord. It notes that lesions in different parts of the internal capsule can cause weakness or sensory loss on the contralateral side of the body. Small vessel disease from hypertension is a common cause of lesions in the internal capsule. Symptoms may include hemiparesis, hemiplegia, sensory loss, and upper motor neuron signs like spasticity, depending on the location of the lesion within the internal capsule.
Posterior circulation strokes can be differentiated from anterior circulation strokes based on clinical features. Posterior circulation strokes often present with vertigo, unsteadiness, crossed hemiplegia, bilateral deficits, cerebellar signs, ocular findings, dissociated sensory loss, and Horner's syndrome. The vertebrobasilar system supplies structures such as the cerebellum, medulla, pons, midbrain, thalamus, and occipital and temporal lobes. Common syndromes include lateral medullary syndrome and superior cerebellar artery occlusion. Infarctions in different vascular territories can produce characteristic clinical deficits.
This document discusses various syndromes that can result from strokes in different areas of the brainstem. It begins with an overview of brainstem anatomy and blood supply. It then describes in detail the clinical presentations of medial and lateral midbrain syndromes, various pontine syndromes including medial and lateral inferior pontine syndromes, and medial and lateral medullary syndromes. Case examples are provided to illustrate the different neurological deficits that can occur based on the location of the brainstem stroke.
This document discusses facial nerve paralysis, including:
- The anatomy of the facial nerve and branches that innervate facial muscles.
- Common causes of facial nerve paralysis like Bell's palsy.
- Evaluating facial nerve paralysis through examining facial muscles, taste sensation, lacrimation, and nerve conduction velocity.
- Treating facial nerve paralysis with physical therapy including heat, electrotherapy, exercises and occasionally splinting.
Meningomyelocoele is the most severe type of spina bifida where the meninges and spinal cord protrude through an opening in the spine. It occurs due to failure of the neural tube to close during the third week of gestation. Symptoms include paralysis of the lower limbs, bladder and bowel dysfunction, and cognitive impairments. Treatment requires multidisciplinary care and focuses on preventing infections, promoting urinary function, and managing complications through surgery, medications, bracing and rehabilitation.
Radial, ulnar, median nerve injury.pptxPradeep Pande
The document provides tips for using a PowerPoint presentation. It recommends:
1) Editing and modifying slides freely by adding your name.
2) Noting that half the slides are blank except for the title to encourage active learning.
3) Showing blank slides first to elicit student responses before presenting content.
4) Repeating this process of blank slide then content slide at the end for reinforcement.
5) This approach facilitates active learning through multiple revisions.
This document compares the differences between upper motor neuron (UMN) lesions and lower motor neuron (LMN) lesions. UMN lesions involve the pyramidal and extrapyramidal descending tracts and occur due to conditions like vascular accidents or space occupying lesions. They result in increased muscle tone, no loss of power, exaggerated reflexes, a positive Babinski's sign, presence of clonus, and spastic paralysis. LMN lesions involve motor neurons in the spinal cord or cranial nerve nuclei and occur due to conditions like poliomyelitis. They result in lost muscle tone, loss of power, lost reflexes, a negative Babinski's sign, absence of clonus, and flaccid paralysis.
Ataxia is a symptom of poor coordination of movement that can affect walking, fingers, speech, and eye movements. It is caused by abnormalities in the cerebellum which coordinates movement. The document discusses various types and causes of ataxia including acute, episodic, chronic, and hereditary forms. Imaging and investigations help identify treatable causes while most hereditary ataxias currently have no proven treatment.
Cauda Equina Syndrome is a condition involving the bundle of nerves originating from the lower end of the spinal cord. It can result from central disc herniations, spinal tumors, trauma, or other causes. Patients may experience LMN signs, saddle anesthesia, gait ataxia, and sexual/bladder/bowel dysfunction. MRI is used for diagnosis. Treatment requires immediate neurosurgical consultation and decompression, as delays can lead to permanent deficits.
CAUDA EQUINA VS CONUS MEDULLARIS SYNDROMEshuchij10
- The conus medullaris syndrome involves compression of the lower end of the spinal cord known as the conus medullaris, located around the L1-L2 vertebrae. This can result in saddle anesthesia, absent bulbocavernous and anal reflexes, and both upper and lower motor neuron signs and symptoms below the level of compression.
- The cauda equina syndrome involves compression of the bundle of spinal nerve roots in the lower back called the cauda equina. It can cause radicular pain, urinary retention, and asymmetric sensory loss. MRI is key for diagnosis and treatment involves decompression through procedures like discectomy, laminectomy, or corpectomy.
-
ORTHOSTATIC HYPOTENSION IN PATIENTS WITH SPINAL CORD INJURY A CASE PRESENTATIONAdemola Adeyemo
This document presents a case study of a 65-year-old man with spinal cord injury who experiences orthostatic hypotension. It defines orthostatic hypotension and describes the physiology and pathophysiology underlying it. The case study details the patient's history, examination findings, and clinical diagnosis of C4 quadriplegia. His treatment included progressive ambulation and positioning to prevent further episodes of orthostatic hypotension. Medical management and physiotherapy techniques are outlined to address orthostatic hypotension in spinal cord injured patients.
Cerebral palsy (CP) is a non-progressive brain injury that causes motor dysfunction. Rehabilitation aims to improve mobility and function through physiotherapy, occupational therapy, bracing, assistive devices and more. Therapies use neurofacilitation techniques like Vojta and Bobath to normalize muscle tone and facilitate normal movement. The goals are to prevent deformities and maximize a child's independence and quality of life.
Cerebral palsy is a group of disorders that affect movement and posture, caused by damage to the developing brain before or during birth. It involves motor disturbances as well as disturbances of sensation, perception, cognition, communication, and behavior. The main types are spastic, dyskinetic, and ataxic. Cerebral palsy is diagnosed through physical examination, neurological assessment, and imaging tests like MRI and CT scan. Treatment involves physical, occupational, speech, and recreational therapy to improve mobility and function. Medications can help reduce spasticity and seizures, while surgery may correct orthopedic issues. Nursing care focuses on supporting therapies, ensuring nutrition, and educating families.
The document discusses cerebellar ataxia and provides an outline for a lecture on the topic. It begins with definitions of ataxia and discusses the challenges in diagnosing cerebellar ataxia. It then presents a clinical scenario of a patient and outlines the topics to be covered in the lecture, including anatomy and physiology of the cerebellum, diagnostic approaches, classifications of ataxias, hereditary and acquired ataxias, treatment options, and conclusions.
The cerebellum has three main parts - the vermis, two hemispheres, and four lobes. It receives sensory input from the spinal cord, brainstem, and cerebral cortex. There are three layers in the cerebellar cortex - molecular layer, purkinje cell layer, and granular layer. The cerebellum is connected to the brainstem via three cerebellar peduncles and plays a role in motor coordination and balance.
Chiari malformations are a group of hindbrain abnormalities involving the rhombencephalon and cerebrospinal fluid junction. There are four main types of Chiari malformations described. Chiari type I involves tonsillar herniation below the foramen magnum without brainstem herniation. Chiari type II involves herniation of the brainstem, cerebellar vermis, and fourth ventricle and is associated with myelomeningocele. Chiari type III is an occipital encephalocele with similar anomalies to type II. Chiari type IV involves cerebellar hypoplasia without herniation. Clinical features of Chiari I can include headache, numbness, and
The internal capsule is a compact bundle of fibers that connects different regions of the brain. It has three parts - the anterior limb, genu, and posterior limb. It contains association fibers connecting different cortical regions, projection fibers connecting the cortex to other gray matter structures, and commissural fibers connecting the left and right hemispheres. The internal capsule receives its blood supply from the lateral striate branches of the middle cerebral artery, medial striate branches of the anterior cerebral artery, and the anterior choroidal artery from the internal carotid artery.
This document discusses the anatomy, types of injuries, clinical presentation, investigations and classification of brachial plexus injuries.
It describes the formation of the brachial plexus from the cervical nerve roots and its divisions. Injuries can be preganglionic or postganglionic, and include traction injuries, avulsions or lacerations. Clinical exam focuses on assessing motor and sensory deficits. Investigations include imaging like MRI/CT, myelography and EMG/NCV to localize the lesion. Seddon's classification is used to describe the severity of injury.
This document describes Chiari malformation, specifically Chiari type I and II. It discusses the presentation, diagnosis, and treatment of a 34-year-old female patient presenting with progressive arm weakness, shoulder pain, and headaches exacerbated by coughing. Examination found reduced sensitivity in her arms. MRI confirmed Chiari type I malformation with tonsillar herniation. The patient underwent posterior fossa decompression surgery, with improvement in symptoms at 6-month follow up. Chiari malformations cause hindbrain herniation and obstruction of CSF flow, often requiring surgery to enlarge the posterior fossa.
This presentation provides an overview of demyelinating diseases, focusing on multiple sclerosis (MS). It defines demyelinating diseases as those that cause myelin destruction while sparing other nervous system elements. MS is described as an autoimmune, inflammatory demyelinating disease of the central nervous system (CNS) that is more common in women. The presentation covers the pathology, clinical features, investigations, and treatment approaches for MS.
Orthopedic disorders were summarized including:
1. Club foot, juvenile rheumatoid arthritis, hip displacement, fractures, osteomyelitis, kyphosis, scoliosis, lordosis, bow leg, knock knee, polydactyly, and syndactyly were defined and their causes, clinical manifestations, and management were described.
2. Various orthopedic conditions like club foot, hip displacement, fractures are managed through medical and surgical interventions along with nursing care including immobilization, exercise, skin care, and patient/family education.
3. Genetic and developmental factors can cause certain orthopedic disorders while trauma, infections, and nutritional deficiencies also contribute to conditions affecting the
This document discusses spina bifida, including:
- Defining spina bifida as an incomplete closure of the neural tube, usually in the lumbar or sacral region.
- Describing the different types from spina bifida occulta to myelomeningocele.
- Detailing the various clinical presentations depending on the location and severity, including neurological deficits, hydrocephalus, orthopedic issues.
- Explaining that treatment involves surgery to cover or untether the spinal cord, along with medications, physical/occupational therapy, and follow-up to address complications.
- Emphasizing prevention through adequate folate intake before and during pregnancy to reduce the risk of spina bifida
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
The Dandy-Walker complex is a rare congenital brain malformation characterized by cystic dilation of the 4th ventricle and partial or complete absence of the cerebellar vermis. It ranges from mega cisterna magna to Dandy-Walker variant to Dandy-Walker malformation based on severity. Associated anomalies are common. The cause is unknown but likely involves abnormal development of the hindbrain. Treatment involves managing hydrocephalus, often with shunt procedures. Prognosis depends on severity and associated anomalies, with higher mortality and developmental delays in more severe forms.
Osteogenesis imperfecta, or brittle bone disease, is caused by mutations in collagen genes COL1A1 and COL1A2 that result in abnormal bone formation and fragility. It is characterized by bones that break easily from minor trauma, along with other connective tissue problems like blue sclera and joint laxity. Treatment focuses on preventing fractures through braces and limiting activity, as well as bisphosphonates and surgery to insert rods for stabilization. The disease ranges in severity from mild cases with normal life expectancy to lethal prenatal forms.
1. Medial medullary syndrome results from lesions of the corticospinal tract, medial lemniscus, and hypoglossal nucleus, causing contralateral hemiparesis, loss of trunk/extremity sensation, and ipsilateral tongue paralysis respectively.
2. Lateral medullary syndrome results from lesions affecting structures like the vestibular nuclei, inferior cerebellar peduncle and vagal nuclei, causing nystagmus, ipsilateral cerebellar signs, and laryngeal/pharyngeal paralysis.
3. Pontine syndromes include medial inferior pontine syndrome affecting corticospinal and medial lemniscus tracts and lateral inferior pontine syndrome affecting
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Spina bifida is a birth defect where the spinal cord fails to develop properly, leaving an opening in the vertebrae. It occurs when the neural tube fails to close fully during early embryonic development. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. Myelomeningocele is the most severe form and often results in paralysis and loss of sensation below the level of the defect. Risk factors include family history, obesity, fever during early pregnancy, and folic acid deficiency. Treatment involves surgery to close the opening and address any related issues like hydrocephalus. Lifelong management focuses on rehabilitation, preventing infections and complications, and addressing issues with mobility,
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly.
Ataxia is a symptom of poor coordination of movement that can affect walking, fingers, speech, and eye movements. It is caused by abnormalities in the cerebellum which coordinates movement. The document discusses various types and causes of ataxia including acute, episodic, chronic, and hereditary forms. Imaging and investigations help identify treatable causes while most hereditary ataxias currently have no proven treatment.
Cauda Equina Syndrome is a condition involving the bundle of nerves originating from the lower end of the spinal cord. It can result from central disc herniations, spinal tumors, trauma, or other causes. Patients may experience LMN signs, saddle anesthesia, gait ataxia, and sexual/bladder/bowel dysfunction. MRI is used for diagnosis. Treatment requires immediate neurosurgical consultation and decompression, as delays can lead to permanent deficits.
CAUDA EQUINA VS CONUS MEDULLARIS SYNDROMEshuchij10
- The conus medullaris syndrome involves compression of the lower end of the spinal cord known as the conus medullaris, located around the L1-L2 vertebrae. This can result in saddle anesthesia, absent bulbocavernous and anal reflexes, and both upper and lower motor neuron signs and symptoms below the level of compression.
- The cauda equina syndrome involves compression of the bundle of spinal nerve roots in the lower back called the cauda equina. It can cause radicular pain, urinary retention, and asymmetric sensory loss. MRI is key for diagnosis and treatment involves decompression through procedures like discectomy, laminectomy, or corpectomy.
-
ORTHOSTATIC HYPOTENSION IN PATIENTS WITH SPINAL CORD INJURY A CASE PRESENTATIONAdemola Adeyemo
This document presents a case study of a 65-year-old man with spinal cord injury who experiences orthostatic hypotension. It defines orthostatic hypotension and describes the physiology and pathophysiology underlying it. The case study details the patient's history, examination findings, and clinical diagnosis of C4 quadriplegia. His treatment included progressive ambulation and positioning to prevent further episodes of orthostatic hypotension. Medical management and physiotherapy techniques are outlined to address orthostatic hypotension in spinal cord injured patients.
Cerebral palsy (CP) is a non-progressive brain injury that causes motor dysfunction. Rehabilitation aims to improve mobility and function through physiotherapy, occupational therapy, bracing, assistive devices and more. Therapies use neurofacilitation techniques like Vojta and Bobath to normalize muscle tone and facilitate normal movement. The goals are to prevent deformities and maximize a child's independence and quality of life.
Cerebral palsy is a group of disorders that affect movement and posture, caused by damage to the developing brain before or during birth. It involves motor disturbances as well as disturbances of sensation, perception, cognition, communication, and behavior. The main types are spastic, dyskinetic, and ataxic. Cerebral palsy is diagnosed through physical examination, neurological assessment, and imaging tests like MRI and CT scan. Treatment involves physical, occupational, speech, and recreational therapy to improve mobility and function. Medications can help reduce spasticity and seizures, while surgery may correct orthopedic issues. Nursing care focuses on supporting therapies, ensuring nutrition, and educating families.
The document discusses cerebellar ataxia and provides an outline for a lecture on the topic. It begins with definitions of ataxia and discusses the challenges in diagnosing cerebellar ataxia. It then presents a clinical scenario of a patient and outlines the topics to be covered in the lecture, including anatomy and physiology of the cerebellum, diagnostic approaches, classifications of ataxias, hereditary and acquired ataxias, treatment options, and conclusions.
The cerebellum has three main parts - the vermis, two hemispheres, and four lobes. It receives sensory input from the spinal cord, brainstem, and cerebral cortex. There are three layers in the cerebellar cortex - molecular layer, purkinje cell layer, and granular layer. The cerebellum is connected to the brainstem via three cerebellar peduncles and plays a role in motor coordination and balance.
Chiari malformations are a group of hindbrain abnormalities involving the rhombencephalon and cerebrospinal fluid junction. There are four main types of Chiari malformations described. Chiari type I involves tonsillar herniation below the foramen magnum without brainstem herniation. Chiari type II involves herniation of the brainstem, cerebellar vermis, and fourth ventricle and is associated with myelomeningocele. Chiari type III is an occipital encephalocele with similar anomalies to type II. Chiari type IV involves cerebellar hypoplasia without herniation. Clinical features of Chiari I can include headache, numbness, and
The internal capsule is a compact bundle of fibers that connects different regions of the brain. It has three parts - the anterior limb, genu, and posterior limb. It contains association fibers connecting different cortical regions, projection fibers connecting the cortex to other gray matter structures, and commissural fibers connecting the left and right hemispheres. The internal capsule receives its blood supply from the lateral striate branches of the middle cerebral artery, medial striate branches of the anterior cerebral artery, and the anterior choroidal artery from the internal carotid artery.
This document discusses the anatomy, types of injuries, clinical presentation, investigations and classification of brachial plexus injuries.
It describes the formation of the brachial plexus from the cervical nerve roots and its divisions. Injuries can be preganglionic or postganglionic, and include traction injuries, avulsions or lacerations. Clinical exam focuses on assessing motor and sensory deficits. Investigations include imaging like MRI/CT, myelography and EMG/NCV to localize the lesion. Seddon's classification is used to describe the severity of injury.
This document describes Chiari malformation, specifically Chiari type I and II. It discusses the presentation, diagnosis, and treatment of a 34-year-old female patient presenting with progressive arm weakness, shoulder pain, and headaches exacerbated by coughing. Examination found reduced sensitivity in her arms. MRI confirmed Chiari type I malformation with tonsillar herniation. The patient underwent posterior fossa decompression surgery, with improvement in symptoms at 6-month follow up. Chiari malformations cause hindbrain herniation and obstruction of CSF flow, often requiring surgery to enlarge the posterior fossa.
This presentation provides an overview of demyelinating diseases, focusing on multiple sclerosis (MS). It defines demyelinating diseases as those that cause myelin destruction while sparing other nervous system elements. MS is described as an autoimmune, inflammatory demyelinating disease of the central nervous system (CNS) that is more common in women. The presentation covers the pathology, clinical features, investigations, and treatment approaches for MS.
Orthopedic disorders were summarized including:
1. Club foot, juvenile rheumatoid arthritis, hip displacement, fractures, osteomyelitis, kyphosis, scoliosis, lordosis, bow leg, knock knee, polydactyly, and syndactyly were defined and their causes, clinical manifestations, and management were described.
2. Various orthopedic conditions like club foot, hip displacement, fractures are managed through medical and surgical interventions along with nursing care including immobilization, exercise, skin care, and patient/family education.
3. Genetic and developmental factors can cause certain orthopedic disorders while trauma, infections, and nutritional deficiencies also contribute to conditions affecting the
This document discusses spina bifida, including:
- Defining spina bifida as an incomplete closure of the neural tube, usually in the lumbar or sacral region.
- Describing the different types from spina bifida occulta to myelomeningocele.
- Detailing the various clinical presentations depending on the location and severity, including neurological deficits, hydrocephalus, orthopedic issues.
- Explaining that treatment involves surgery to cover or untether the spinal cord, along with medications, physical/occupational therapy, and follow-up to address complications.
- Emphasizing prevention through adequate folate intake before and during pregnancy to reduce the risk of spina bifida
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
The Dandy-Walker complex is a rare congenital brain malformation characterized by cystic dilation of the 4th ventricle and partial or complete absence of the cerebellar vermis. It ranges from mega cisterna magna to Dandy-Walker variant to Dandy-Walker malformation based on severity. Associated anomalies are common. The cause is unknown but likely involves abnormal development of the hindbrain. Treatment involves managing hydrocephalus, often with shunt procedures. Prognosis depends on severity and associated anomalies, with higher mortality and developmental delays in more severe forms.
Osteogenesis imperfecta, or brittle bone disease, is caused by mutations in collagen genes COL1A1 and COL1A2 that result in abnormal bone formation and fragility. It is characterized by bones that break easily from minor trauma, along with other connective tissue problems like blue sclera and joint laxity. Treatment focuses on preventing fractures through braces and limiting activity, as well as bisphosphonates and surgery to insert rods for stabilization. The disease ranges in severity from mild cases with normal life expectancy to lethal prenatal forms.
1. Medial medullary syndrome results from lesions of the corticospinal tract, medial lemniscus, and hypoglossal nucleus, causing contralateral hemiparesis, loss of trunk/extremity sensation, and ipsilateral tongue paralysis respectively.
2. Lateral medullary syndrome results from lesions affecting structures like the vestibular nuclei, inferior cerebellar peduncle and vagal nuclei, causing nystagmus, ipsilateral cerebellar signs, and laryngeal/pharyngeal paralysis.
3. Pontine syndromes include medial inferior pontine syndrome affecting corticospinal and medial lemniscus tracts and lateral inferior pontine syndrome affecting
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Spina bifida is a birth defect where the spinal cord fails to develop properly, leaving an opening in the vertebrae. It occurs when the neural tube fails to close fully during early embryonic development. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. Myelomeningocele is the most severe form and often results in paralysis and loss of sensation below the level of the defect. Risk factors include family history, obesity, fever during early pregnancy, and folic acid deficiency. Treatment involves surgery to close the opening and address any related issues like hydrocephalus. Lifelong management focuses on rehabilitation, preventing infections and complications, and addressing issues with mobility,
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly.
Spina bifida is a birth defect where the spinal column does not fully close around the spinal cord. It occurs when the neural tube fails to close properly during early embryonic development. The main types are spina bifida occulta (mildest), meningocele (meninges protrude through opening), and myelomeningocele (most severe where spinal cord and membranes protrude). Symptoms range from minor skin marks to paralysis depending on location and severity of the defect. Treatment involves surgery to cover the exposed tissues and may include shunts to drain excess cerebrospinal fluid. Lifelong management focuses on rehabilitation, prevention of infections and complications, and addressing mobility, bladder, and bowel issues.
This document discusses neural tube defects (NTDs), which are congenital malformations of the brain and spinal cord caused by improper closure of the neural tube early in embryonic development, usually due to folic acid deficiency. It defines various types of NTDs including spina bifida, encephalocele, myelomeningocele, anencephaly, and tethered cord syndrome. For each type, it describes the pathogenesis, clinical presentation, diagnostic evaluation, and management approaches including surgery, bracing, physical therapy, and shunting procedures. Genetic and environmental risk factors are also discussed. The document provides a detailed overview of NTDs for medical professionals.
This document discusses neural tube defects, specifically spina bifida. It defines spina bifida as a birth defect involving incomplete development of the spinal cord or its coverings. There are two main types - spina bifida occulta, which is usually asymptomatic, and spina bifida manifesta, which includes meningocele (protrusion of meninges) and myelomeningocele (protrusion of meninges and spinal cord). Causes include genetic factors and folic acid deficiency. Symptoms depend on the type but may include bladder/bowel issues or developmental delays. Treatment involves surgery to repair the defect and address any related issues like hydrocephalus. Nursing care focuses on preventing infection, managing elimination
(1) Spina bifida is a birth defect where part of the spinal cord and its meninges are exposed through an opening in the backbone. (2) It results from the neural tube failing to close properly during early pregnancy. (3) Spina bifida can range from mild to severe depending on factors like the size and location of the defect and presence of complications such as hydrocephalus or Chiari malformation.
This document discusses neural tube defects (NTDs), including spina bifida, anencephaly, and encephalocele. It describes the normal embryonic development of the neural tube and causes of NTDs, which can include genetic and environmental factors like folic acid deficiency. Management involves prenatal screening, surgical repair after birth, lifelong treatment of symptoms like paralysis, and prevention through folic acid supplementation before and during pregnancy. Children with NTDs may experience permanent disabilities and require ongoing monitoring and support.
Spina bifida is a birth defect caused by the failure of the neural tube to close during embryonic development, usually within the first month of pregnancy. There are different types including spina bifida occulta, the most common form where only the spinous process is affected, and spina bifida aperta where the entire vertebral arch is involved, exposing the meninges and possibly the spinal cord. While spina bifida occulta is often asymptomatic, spina bifida aperta can cause orthopedic deformities, bladder/bowel issues, and foot deformities in surviving infants. Physiotherapy focuses on correcting deformities, managing paralysis, preventing pressure sores, and training ambulation and mobility.
Spina bifida is a birth defect where the spinal column does not fully close around the spinal cord. It can range from mild to severe. The presentation and symptoms depend on the type and severity. Occupational therapists play an important role in managing spina bifida through various stages from infancy to adulthood. Their goals include preventing contractures and deformities, promoting motor development, and facilitating independence with self-care. Treatment involves both medical and therapeutic approaches to improve functioning and quality of life.
This document discusses neural tube defects (NTDs), which occur early in pregnancy when the neural tubes fail to close properly. It describes different types of NTDs including spina bifida, anencephaly, and exencephaly. Spina bifida can be occulta, cystica, or myelomeningocele depending on whether the spinal cord or meninges protrude out. Anencephaly and exencephaly involve failure of the cranial neural tube to close. Risk factors include genetics and lack of folic acid. Prenatal screening can detect some NTDs but early fetal surgery is also being studied. Taking folic acid before and during pregnancy can help prevent NTDs.
Spina bifida is a birth defect where the spine and spinal cord do not form properly, leaving part of the spinal cord exposed through an opening in the vertebrae. There are three main types - spina bifida occulta which is mildest, meningocele where the meninges protrude out, and myelomeningocele where both the meninges and spinal cord protrude out. It occurs during early pregnancy when the neural tube fails to close fully. Physiotherapy management involves positioning, range of motion exercises, and strengthening to address any motor delays or deficits based on the location and severity of the condition. Surgery may be needed to close the opening and address any orthopedic issues, while ongoing care
Neural tube defects are birth defects that result from the failure of the neural tube to close properly during early embryonic development. The most common types are spina bifida, anencephaly, and encephalocele. Prevention focuses on women getting adequate folic acid before and during early pregnancy. Treatment depends on the specific type of defect but may involve surgery to repair the opening and protect the exposed tissues, management of any related conditions like hydrocephalus, and lifelong care for resulting physical, neurological, and functional impairments. Prognosis depends on the severity of the defect and can include permanent disability.
This document summarizes the development of the central nervous system during the 4th week of gestation. It describes how the neural groove deepens and closes to form the neural tube. Cells within the neural tube then differentiate into neuroblasts and neurons. The meninges develop from surrounding mesenchyme. Vertebral bodies form around the notochord and projections extend around the neural canal to form the vertebral arches. Failure of these arches to fuse can result in spina bifida. The document further describes the types and causes of spina bifida and approaches to management.
Spina bifida is a neural tube defect where the backbone does not fully close around the spinal cord during embryonic development. It can cause damage to the spinal cord and nerves. The main types are myelomeningocele, meningocele, and spina bifida occulta. Myelomeningocele is the most severe type, often causing mobility and bladder issues. Spina bifida is diagnosed through prenatal tests like ultrasound and AFP levels and treated after birth through surgery. Taking folic acid before and during pregnancy can help prevent spina bifida.
The document discusses Spinal Bifida, beginning with the group members presenting and objectives of the presentation. It defines Spinal Bifida as a birth defect involving failure of vertebral arch fusion. It describes the types (Occulta, Cystica with Meningocele and Myelomeningocele forms) and discusses etiology, pathophysiology, clinical manifestations, diagnostic tests, medical and nursing management, and complications of Spinal Bifida. The presentation aims to provide knowledge on Spinal Bifida and its characteristics to students.
Meningomyelocoele is the most severe type of spina bifida where the meninges and spinal cord protrude through an opening in the spine. It occurs due to failure of the neural tube to close during the third week of gestation. Symptoms include paralysis of the lower limbs, bladder and bowel dysfunction, and cognitive impairments. Treatment requires multidisciplinary care and focuses on preventing infections, promoting urinary function, and managing complications through surgery, medications, bracing and rehabilitation.
Spina bifida is a birth disorder that involves the incomplete development of the spine. In the first month of pregnancy, a special set of cells forms the “neural tube;” the top of the tube becomes the brain, and the remainder becomes the spinal cord and structures around it. In spina bifida, the neural tube doesn’t close completely and some of the bones of the spine do not close in the back. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves.There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and myelomeningocele. The symptoms of spina bifida vary from person to person, depending on the type and level of involvement. Most cases are mild and do not require special treatment. The more serious cases involve nerve damage.
Occulta is the mildest and most common form in which one or more bones of the spinal column (vertebrae) are malformed. The name “occulta,” which means “hidden,” indicates that a layer of skin covers the opening in the bones of the spine. It usually shows no symptoms and is often found by accident on an x-ray or similar test.
Closed neural tube defects are a diverse group of disorders in which the spine may have malformations of fat, bone, or the membranes (the meninges) that cover the spinal cord. Many of these neural tube defects require surgery in childhood. People with this type of spina bifida may have weakness of the legs and trouble with bowel and bladder control. These issues may change or progress as children grow. It is important to have close communication with doctors to minimize these changes as much as possible.
Meningocele occurs when the meninges protrude through the spine and cause a sac of spinal fluid on the back. This fluid is typically only around the brain and spine, but a problem with the bony covering over the spine allows it to poke out. The malformation contains no nerves and may or may not be covered by a layer of skin. Individuals with meningocele may have minor symptoms.Myelomeningocele is the most severe form of spina bifida. A portion of the spinal cord or nerves are exposed in a sac through an opening in the spine that may or may not be covered by the meninges. The opening can be closed surgically while the baby is in utero or shortly after the baby is born. Most people with myelomeningocele experience changes in brain structure, leg weakness, and bladder and bowel dysfunction.
Myelomeningocele is often called a "snowflake condition" because no two people with the condition are the same. Typically, if the opening in the spine is lower down the back, the person will experience less symptoms. People with myelomeningocele require close follow-up with physicians throughout their childhood and lifespan to maximize their function and prevent complications like kidney failure.Complications of spina bifida may include:
Abnormal sensation or paralysis, which mostly occurs with closed neural tube defects and myelomenin
Spina bifida is a birth defect where the spinal cord fails to develop properly, leaving an opening in the vertebrae. There are three main types - spina bifida occulta which has no symptoms, meningocele where only the meninges protrude out, and myelomeningocele where the meninges and spinal cord protrude out. Myelomeningocele is the most severe and can cause paralysis. Diagnosis is usually made prenatally through ultrasound or after birth upon visual inspection. Treatment involves surgery to close the opening soon after birth along with lifelong physical therapy and management of complications which commonly include hydrocephalus, learning disabilities, and bladder/bowel issues.
Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It falls under the broader category of NTD (Neural Tube Defects).
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2. Spina bifida is a condition that affects the spine and is
usually apparent at birth. It is a type of neural tube defect
(NTD).
Spina bifida can happen anywhere along the spine if the
neural tube does not close all the way (usually lower
back), so the backbone that protects the spinal cord
doesn’t form and close as it should. This often results in
damage to the spinal cord and nerves.
Beneath this defect the meninges and spinal cord may or
may not be involved to varying degrees. The condition is a
result of failure of the mesenchyme, which grows in
between the neural tube and the surface ectoderm, to form
vertebral arches in the affected region.
In spina bifida, the spines and arches of one or more
adjacent vertebra failed to develop.
The condition occurs most frequently in the lower thoracic,
lumbar and sacral regions.
3. The neural tube develops into the
spinal cord and brain very early in
pregnancy.
It forms and closes the spinal cord
and nerves within protective
vertebrae (bones).
When there is an NTD present, the
spinal column does not close
completely as it is developing.
This occurs at around 23 days
gestation.
4. Types of Spina bifida are as follows:
1. Spina bifida oculta
2. Meningocele
3. Meningomyelocele
4. Myelocele
5. Syringomyelocele
6. Lipomeningocele
7. Spina bifida ventralis
Myelo” is the spinal cord
“meninges” is the protective covering
of the spinal cord
“cele” identifies swelling, or a sac
“lipo” means fat
“occult” means hidden
“Syrinx” means cyst
“Ventralis” means anterior
“bifida” means split
5. Most common and Most mild form of Spina bifida.
Occulta in Latin means Hidden, because a small
layer of skin covers the opening of your spinal
vertebrae.
when there is an opening in the spine, but nothing
comes out. It is skin covered and may not be
diagnosed at birth.
Spinal cord and tissue don’t protrude, so no damage
and no severe symptoms.
The spines and arches of one or more vertebra,
usually in the lumbar region, are absent, and the
vertebral canal remains open posteriorly. The
spinal cord and nerve roots usually are normal.
The defect is covered by the post vertebral muscles
and cannot be seen from the surface. A small tuft of
hair, dimple, birthmark or a fatty tumor may be
present over the defect.
6. Most cases are symptomless and are diagnosed by chance when the vertebral
column is X-rayed.
Spina bifida might cause physical and intellectual disabilities that range from
mild to severe. The severity depends on:
The size and location of the opening in the spine.
Whether part of the spinal cord and nerves are affected.
7. Meningocele is also called Meningeal
cyst.
When the meninges, but not the spinal
cord, come out of the opening in the
spine.
Hence, there is no damage to spinal
cord so no severe symptoms are
present.
The projecting meninges form a cystic
swelling beneath the skin and contain
cerebrospinal fluid, which
communicates with the subarachnoid
space.
The spinal cord and nerves usually are
normal.
8. Meningomyelocele is also called
Mylomeningocele.
When the spinal cord and protective
covering (meninges) both come out of
the opening in the spine.
The spinal cord or nerve roots are
adherent to the inner wall of the sac.
Generally, skin is intact. But in
severe form, the skin is absent. So,
spinal cord is exposed, and Hence
named “Open Spina Bifida” .
9. In Open Spina Bifida, spinal cord is prone to damage
and infections, resulting is:
Symptoms:
1. Loss of sensation
2. Paralysis
3. Bladder and Bowel movement problem
4. Seizure
5. Leg and foot deformities
Meningomyelocele is associated with ARNOLD
CHIARI II MALFORMATION.
ARNOLD CHIARI II MALFORMATION:
Cerebellum and brainstem tissue slips down into the
foramen Magnum
Leads to symptoms of cerebellum and Hydrocephalus
10. The neural tube fails to close in the
region of the defect. An oval row area
is found on the surface; this
represents the neural groove whose
lips are fused.
A rare disorder that presents as a
flat neural placode (at the level of
the skin of the back) that is exposed
to the environment.
The lack of expansion of the
subarachnoid space distinguishes
this lesion from myelomeningocele.
The central canal discharges clear
cerebrospinal fluid onto the surface.
11. This condition is rare.
A Meningomyelocele is present, and
in addition the central canal of the
spinal cord at the level of the Bony
defect is grossly dilated.
12. when fat tissue is caught in the
meninges and comes out of the
opening in the spine.
It is covered in skin and does not
require surgery at birth.
13. Much less common than other forms
of spina bifida
Meningeal sac protrudes into the
retroperitoneal space and impinge on
retroperitoneal organs
such as the duodenum,
ascending/descending colon, kidneys,
adrenal glands, pancreas, aorta, and
inferior vena cava
14. Health status
Incidence and epidimology
Causes
Management:
1. Detection (Diagnosis)
2. Surgery (Treatment)
3. Antibiotics
4. Careful observation
5. Physical therapy
Prevention
Social impact
15. Many afflicted infants are born dead. If the child is born alive, dead from infection
of the spinal cord may occur within a few days.
As a result of advances in medical and surgical care many infants with severe forms
of spina bifida now survive.
Unfortunately these children are likely to have a long life disabilities and
psychosocial problems.
The neurologic deficits alone may result in deformation of the limbs and spine, and
bladder, bowel and sexual dysfunction.
16. Worldwide incidence is 1-2 cases in 1000 births
US incidence is 0.7 per 1000 live births
East coast higher than West coast
Slightly higher incidence in Caucasian population
Irish immigrants also have a higher risk
Seen more in children born in late summer and early fall
17. Cause is unknown
Risk factor:
1. Folate deficiency (vit B9)(Developmental abnormalities occur at 4th week –
decrease intake of folic acid rich diet)
2. Obesity
3. Environmental and genetic factors
4. Poorly controlled diabetes
5. Medication that interferes with folate synthesis (e.g. anti.seizure medication).
19. Often done prenatally for detection of increased Alpha FetoProtein AFP in
mother’s serum.
Can be increased in other conditions
Other blood tests:
1. Human Chorionic gonadotropin HCG
2. Inhibin A
3. Estriol
Ultrasound
Amniocentesis ( Samples from amniotic sac )
20. Most cases of spina bifida occulta require no treatment. A
meningocele should be removed surgically within a few days
of birth. Infants with meningomyelocele should also be treated
surgically.
SURGERY:
During surgery, the surgeon will put the spinal cord and any
exposed tissues or nerves back into the correct place. The gap in
the spine is then closed and the hole sealed with muscle and
skin. Although this will repair the defect, unfortunately it cannot
reverse any nerve damage..
Prenatal surgery:
Close myelomeningocele
Can be dangerous
Postnatal surgery:
Within a few Days of birth
To minimize risk of meningitis
22. Not all people born
with spina bifida have
the same needs, so
treatment will be
different for each
person. Some people
have problems that are
more serious than
others.
Treatment for spina
bifida depends on the
extent of spinal cord
involvement
23. In some cases the spinal cord is exposed to the environment
Antibiotics are essential in preventing infection of the CNS
24. Children with myelomeningocele
often have hydrocephalus (blockage
of CSF)
Children may present with paralysis,
blindness, MR, inability to speak,
convulsions
Any changes in mental status or
behavior should be quickly brought
to the attention of the child’s
physician(s)
25. Spinal cord damage can cause muscle weakening
and wasting
Speech therapy may also be useful for some
individuals
The therapy programs should be designed to
parallel the normal achievement of gross motor
milestones.
In managing the cases of newborns with
myelomeningocele, the physical therapist
establishes a baseline of muscle function.
As the child develops, the physical therapist
monitors joint alignment, muscle imbalances,
contractures, posture, and signs of progressive
neurologic dysfunction.
The physical therapist also provides caregivers
with instruction in handling and positioning
techniques and recommends orthotic positioning
devices to prevent soft tissue contractures.
26. Effective means of independent mobility in conjunction with therapeutic exercises
that promote trunk control and balance.
For patients who are not likely to become ambulatory, place emphasis on
developing proficiency in wheelchair skills
parapodium or swivel walker- for pregait training
Traditional long leg braces (eg, hip-knee-ankle-foot orthosis, knee-ankle-foot
orthosis) or the reciprocating gait orthosis [RGO]).
Occupational Therapy for ADLs
Recreational Therapy- to decrease the negative impact on normal development
and self esteem
27. Education:
Neural tube begins to close at day 22 after conception
Neural tube is usually fully closed by day 28 after conception
Folate intake:
Recommended that women of child-bearing age take 400 micrograms of folate per
day
Pregnant women should take 600 micrograms of folate per day
Women with a previous child with spina bifida should take 4000 micrograms of
folate per day
Folate can decrease the risk of spina bifida by up to 75%
28. Prognosis and any deficits are dependent upon level of involvement
Most children that are treated early will have normal IQ and be able to attend
public schools
Mobility is the biggest concern for many patients with spina bifida – lack of
mobility can lead to obesity and scoliosis
With proper treatment, individuals will live well into adulthood
Editor's Notes
If the neural tubes doesn’t get fused, there is a defect or a absence of vertebral arches because of failure of the mesoderm to organize.
Starting from 22nd day,Neural tubes completely closes around 28 days. So in practical terms the NTDs occur before the women know they’re expecting.
Spinal cord and meninges project through the vertebrae
Placode (plural placodes) A platelike thickening of the epithelial layer of an embryo from which an organ, especially a sense organ, develops
Main source of folic acid is cereal grains.
Valproic acid – treat siezures / convulsion, bipolar disorder, migraine.
Spina bifida happens in the first few weeks of pregnancy, often before a woman knows she’s pregnant. Although folic acid is not a guarantee that a woman will have a healthy pregnancy, taking folic acid can help reduce a woman’s risk of having a pregnancy affected by spina bifida. Because half of all pregnancies in the United States are unplanned, it is important that all women who can become pregnant take 400 mcg of folic acid daily.
The AFP is released from the fetus through amniotic fluid in the mother’s serum.