Phakomatosis
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Phakomatosis is a group of conditions where there are benign, congenital tumors of blood vessels or neural tissues that are often located in the eyes, skin, and brain. Some specific conditions included are neurofibromatosis, tuberous sclerosis, angiomatosis retinae with cerebellar hemangioblastoma, encephalotrigeminal angiomatosis, ataxia telangiectasia, and encephalo-retino-facial angiomatosis. Each condition causes non-cancerous growths in different parts of the body.
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Phakomatosis
Phakomatosis is a group of conditions where there are benign, congenital tumors of blood vessels or neural tissues that are often located in the eyes, skin, and brain. Some specific conditions included are neurofibromatosis, tuberous sclerosis, angiofibromatosis retinae with cerebellar hemangioblastoma, encephalotrigeminal angiomatosis, ataxia telangiectasia, and encephalo-retino-facial angiomatosis. Each condition has characteristic tumors or growths that affect various organs like the brain, skin, eyes, and others. The causes can be genetic or due to mutations and the inheritance patterns vary between conditions.
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This document summarizes various pathologies of the nervous system including:
1. The main cell types of the central nervous system and their functions and regenerative capacities.
2. Mechanisms of disease including structural abnormalities, metabolic lesions, and increased intracranial pressure.
3. Specific disorders are discussed such as tumors, demyelinating diseases, vascular disorders like strokes, infections, and traumatic injuries. Imaging techniques and microscopic findings are presented.Phakomatoses ppt
The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
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Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome, is a neurocutaneous syndrome characterized by a facial port-wine nevus, seizures, and mental retardation that are typically ipsilateral to the facial nevus. It involves abnormal proliferation of leptomeningeal veins in the brain and frequently results in cortical atrophy, calcification, and seizures in affected individuals. While the pathology begins in utero, the syndrome progresses postnatally with neurological deterioration possibly linked to progressive venous occlusion over time.
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Phakomatosis
Phakomatosis is a group of conditions where there are benign, congenital tumors of blood vessels or neural tissues that are often located in the eyes, skin, and brain. Some specific conditions included are neurofibromatosis, tuberous sclerosis, angiofibromatosis retinae with cerebellar hemangioblastoma, encephalotrigeminal angiomatosis, ataxia telangiectasia, and encephalo-retino-facial angiomatosis. Each condition has characteristic tumors or growths that affect various organs like the brain, skin, eyes, and others. The causes can be genetic or due to mutations and the inheritance patterns vary between conditions.
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This document summarizes various pathologies of the nervous system including:
1. The main cell types of the central nervous system and their functions and regenerative capacities.
2. Mechanisms of disease including structural abnormalities, metabolic lesions, and increased intracranial pressure.
3. Specific disorders are discussed such as tumors, demyelinating diseases, vascular disorders like strokes, infections, and traumatic injuries. Imaging techniques and microscopic findings are presented.Phakomatoses ppt
The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
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This document discusses pathology of the nervous system. It covers various disease mechanisms including increased intracranial pressure, vascular and circulatory disorders, trauma, infections, tumors, demyelinating diseases, and developmental abnormalities. It describes the main cell types in the central nervous system and their functions. Key pathologies covered include strokes, herniations, hydrocephalus, and effects of trauma. Specific vascular disorders like ischemia, infarction, hemorrhage, and their causes are explained.
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Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome, is a neurocutaneous syndrome characterized by a facial port-wine nevus, seizures, and mental retardation that are typically ipsilateral to the facial nevus. It involves abnormal proliferation of leptomeningeal veins in the brain and frequently results in cortical atrophy, calcification, and seizures in affected individuals. While the pathology begins in utero, the syndrome progresses postnatally with neurological deterioration possibly linked to progressive venous occlusion over time.
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This document summarizes Encephalotrigeminal Angiomatosis, also known as Sturge-Weber Syndrome (SWS), a rare congenital neurological disorder characterized by a facial birthmark and abnormalities of the brain and eyes. SWS is caused by a somatic mutation in the GNAQ gene and results in errors in skin and nervous system development. Clinical manifestations include seizures, glaucoma, hemiparesis, and developmental delays. Diagnosis involves imaging tests like MRI, CT, and angiography showing abnormal blood vessels and lesions. Treatment focuses on controlling seizures and reducing pressure in the eyes. Prognosis is often poor if seizures begin before age 2, with increased risk of developmental delays.
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The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
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Three key points about space occupying lesions of the brain:
1. Space occupying lesions include neoplasms like meningiomas and gliomas, infections like abscesses, and vascular lesions like aneurysms and hemorrhages.
2. Signs and symptoms vary depending on the location and size of the lesion but can include headaches, seizures, nausea/vomiting, and neurological deficits.
3. Neuroimaging with CT or MRI is important for diagnosis and helps characterize lesions, while lumbar puncture and blood tests help evaluate for other potential causes like infections.
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This document discusses intracranial space occupying lesions, including their definition, types, clinical presentations, diagnosis, and treatment. It defines these lesions as those that expand in volume to displace normal neural structures and may increase intracranial pressure. It then describes the main types of lesions such as primary and metastatic brain tumors, traumatic injuries like hematomas, and infectious or inflammatory causes. The clinical presentations, diagnosis using imaging and other tests, and treatment approaches are outlined for each of the major lesion types. Surgical resection and other procedures are discussed as primary treatment methods depending on the specific lesion.
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This document summarizes several phakomatoses, including neurofibromatosis types 1 and 2, tuberous sclerosis, ataxia-telangiectasia, and others. It describes key diagnostic criteria such as cafe-au-lait spots, freckling, and tumors. Common clinical features are neurological abnormalities, seizures, cognitive impairment, skin lesions, and increased cancer risk. Imaging and genetic testing can support diagnoses. Management involves symptomatic treatment and surveillance for complications. The disorders result from defects in cell differentiation and tumor suppression pathways.
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The document defines phakomatoses as multisystem disorders involving the central nervous system, eyes, and skin that cause characteristic lesions and hamartomas. It then describes several common and uncommon phakomatoses syndromes in detail, focusing on their defining clinical features, inheritance patterns, prevalence, and ocular manifestations. The most prominent syndromes discussed are neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, Sturge-Weber syndrome, and Wyburn-Mason syndrome.
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Three key points about space occupying lesions of the brain:
1. Space occupying lesions include neoplasms like meningiomas and gliomas, infections like abscesses, and vascular lesions like aneurysms and hemorrhages.
2. Signs and symptoms vary depending on the location and size of the lesion but can include headaches, seizures, nausea/vomiting, and neurological deficits.
3. Neuroimaging with CT or MRI is important for diagnosis and helps characterize lesions, while lumbar puncture and blood tests help evaluate for other potential causes like infections.
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This document discusses intracranial space occupying lesions, including their definition, types, clinical presentations, diagnosis, and treatment. It defines these lesions as those that expand in volume to displace normal neural structures and may increase intracranial pressure. It then describes the main types of lesions such as primary and metastatic brain tumors, traumatic injuries like hematomas, and infectious or inflammatory causes. The clinical presentations, diagnosis using imaging and other tests, and treatment approaches are outlined for each of the major lesion types. Surgical resection and other procedures are discussed as primary treatment methods depending on the specific lesion.
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This document discusses several neurocutaneous syndromes, which are genetic disorders that involve abnormalities of both the skin and nervous system. Two key syndromes discussed are tuberous sclerosis, characterized by adenoma sebaceum, ash leaf spots, subungual and gingival fibromas, and shagreen patches. Von Recklinghausen's disease is also discussed and involves cafe au lait spots and axillary freckling. These conditions are inherited in an autosomal dominant pattern and involve developmental abnormalities of the skin and an increased risk of nervous system tumors.
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This document summarizes several neurocutaneous syndromes including von Hippel-Lindau disease, neurofibromatosis type 1 and 2, tuberous sclerosis complex, Sturge-Weber syndrome, and Bourneville's disease. It describes the characteristic clinical features of each syndrome such as café au lait spots, tumors, hamartomas and visual or neurological disturbances. Diagnosis is based on the presence of specific lesions and symptoms. Screening recommendations are provided for early detection and treatment of complications.
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This document discusses various non-tumoral spinal cord lesions including vascular, infectious, inflammatory, and demyelinating causes. It provides details on imaging features of common conditions such as spinal cord ischemia seen as "owl's eyes" or "butterfly" patterns on MRI. Arteriovenous malformations appear as flow voids and cord expansion on MRI while cavernous angiomas have a "popcorn" appearance. Infections like tuberculosis may cause cord enhancement and abscesses. Demyelinating diseases like multiple sclerosis can cause multiple spinal cord lesions seen as hyperintensities on MRI.
doctorCerebelum applied
The cerebellum contributes a small percentage of the brain's weight and volume but contains half of its neurons. It is an important part of the motor system. The cerebellum has three functional divisions - vestibulocerebellum, spinocerebellum, and cerebrocerebellum - which are involved in maintaining equilibrium, influencing posture and movement, and coordinating limb movement respectively. Cerebellar disorders can be caused by developmental abnormalities, vascular issues like stroke, infections, tumors, demyelination, drugs/toxins, metabolism problems, trauma, and genetic/inherited conditions. Evaluation of a patient with cerebellar ataxia involves considering features like onset age, progression rate, laterality,
Neurocutaneous
This document provides an overview of several neurocutaneous syndromes:
- Neurofibromatosis causes tumors on nerves and affects 1 in 3,000 people. Common features include café-au-lait spots and tumors called neurofibromas.
- Tuberous sclerosis causes non-cancerous tumors in many organs and affects 1 in 6,000 people. Common signs include ash-leaf shaped skin lesions and seizures.
- Sturge-Weber syndrome is characterized by a birthmark on the face and abnormalities of blood vessels in the brain. It causes seizures and developmental delays.
Syringomyelia
Syringomyelia is a condition where a cyst, called a syrinx, develops in the spinal cord. It most commonly affects the lower cervical spine. It is often associated with abnormalities of the skull or spinal column. The majority of cases are linked to Chiari malformation type 1, where the cerebellar tonsils are displaced into the spinal canal. Symptoms vary depending on the location of the syrinx but can include pain, loss of sensation, muscle weakness or atrophy, and autonomic dysfunction. Diagnosis is made using imaging like MRI. Treatment involves surgery to decompress pressure on the spinal cord like laminectomy with the goal of resolving the syrinx.
Neurocutaneous Syndromes
The document provides an overview of several neurocutaneous syndromes from a pediatric perspective. It discusses the defining features and management of neurofibromatosis types 1 and 2, tuberous sclerosis complex, and Sturge-Weber syndrome. Key points include: neurofibromatosis type 1 is characterized by café-au-lait spots and neurofibromas; neurofibromatosis type 2 features tumors of the cranial and spinal nerves; tuberous sclerosis complex causes non-cancerous tumors in many organs and features epilepsy and intellectual disability; and Sturge-Weber syndrome is identified by a port-wine stain on the face and glaucoma of the ipsilateral eye. Close multidisciplinary monitoring
Neurofibromatosis abhijeet
Neurofibromatosis is a genetically inherited disorder that causes tumors to grow on nerve tissues. There are three main types: NF1 is the most common, caused by a mutation on chromosome 17 and characterized by cafe au lait spots and benign nerve tumors; NF2 results from a mutation on chromosome 22 and causes bilateral tumors of the vestibular nerve; schwannomatosis involves mutations on chromosomes 17 and 22 and causes tumors on cranial, spinal and peripheral nerves without hearing loss. Symptoms vary but can include discolored skin patches, nerve tumors, headaches, hearing loss, and in rare cases cancer. Diagnosis is based on clinical criteria and treatment focuses on managing symptoms through surgery or chemotherapy.
phakomatosesppt-170818165457.pptx
The document defines phakomatoses as multisystem disorders that affect the central nervous system, eyes, and skin with characteristic lesions and hamartomas. Common phakomatoses include neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau syndrome, Sturge-Weber syndrome, and Wyburn-Mason syndrome. Neurofibromatosis type 1 is characterized by café au lait spots and Lisch nodules on the iris. Tuberous sclerosis causes retinal astrocytic hamartomas and adenoma sebaceum skin lesions. Von Hippel-Lindau syndrome features retinal capillary hemangioblastomas and central
Genetik sb 2.pptx
The document defines phakomatoses as multisystem disorders affecting the central nervous system, eyes, and skin with characteristic lesions and hamartomas. Common phakomatoses include neurofibromatosis types 1 and 2, tuberous sclerosis, Von Hippel-Lindau syndrome, Sturge-Weber syndrome, and Wyburn-Mason syndrome. Neurofibromatosis type 1 is characterized by café au lait spots and Lisch nodules on the iris. Tuberous sclerosis causes retinal astrocytic hamartomas and adenoma sebaceum skin lesions. Von Hippel-Lindau syndrome features retinal capillary hemangioblastomas and central nervous
Phakomatoses + Congenital Metabolic disorders.pptx
This document discusses several neurocutaneous disorders and congenital metabolic disorders including their characteristics, diagnostic criteria, associated conditions and tumors. It provides detailed information on Neurofibromatosis types 1 and 2, Tuberous Sclerosis Complex, Von Hippel-Lindau disease, Sturge-Weber disease and Osler-Weber-Rendu syndrome. It describes the genetic basis, clinical features and management of these conditions.
Neurocutaneous syndrome
This document discusses several neurocutaneous syndromes including their definitions, genetics, classifications, and key details. It provides in-depth information on Neurofibromatosis types 1 and 2, Tuberous Sclerosis, Sturge-Weber Syndrome, and Von Hippel-Lindau disease. For each condition, it outlines diagnostic criteria, clinical manifestations, management approaches, and important follow-up considerations.
NEUROCUTANEOUS SYNDROME
This document discusses several neurocutaneous syndromes including their definitions, genetics, classifications, and key details. It provides in-depth information on Neurofibromatosis types 1 and 2, Tuberous Sclerosis, Sturge-Weber Syndrome, and Von Hippel-Lindau disease. For each condition, it outlines diagnostic criteria, clinical manifestations, management approaches, and important follow-up considerations.
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Corneal edema occurs when the corneal thickness increases and transparency decreases due to a buildup of fluid between the corneal layers. Fluid accumulation can be caused by inflammation from conditions like corneal ulcers or iridocyclitis, trauma from mechanical injuries or surgery, increased intraocular pressure, corneal hypoxia, or dystrophic eye conditions. Symptoms include decreased vision acuity and seeing colored halos. Treatment focuses on removing the excess fluid through the use of hot air, saline drops or ointment, or glycerin drops.
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Presbyopia is an age-related loss of the eye's ability to focus on near objects. It typically begins around age 40 and causes symptoms like eyestrain and headaches when reading. Tests like visual acuity and refraction exams are used to diagnose presbyopia. Treatment involves using appropriate corrective lenses matched to the patient's specific needs, like bifocals or progressive lenses, to bring their near vision point within a comfortable reading distance. Presbyopia is a natural part of aging and should not be overcorrected, as that can cause discomfort.
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https://www.youtube.com/playlist?list=PLZghVyyU8IvYo67e0GeIJuYl8h6sGGmnG
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https://www.youtube.com/playlist?list=PLZghVyyU8IvbF1a40VEGUSZohhPHA9j4l
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https://www.youtube.com/playlist?list=PLZghVyyU8IvYsAb1q1s8fsXNYkxGJJ6rT
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https://www.youtube.com/playlist?list=PLZghVyyU8IvZ2oUVmgP7KDY29QhaNTMvX
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https://www.youtube.com/playlist?list=PLZghVyyU8IvYSqC4hIshSYy2RFjvL07j1
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https://www.youtube.com/playlist?list=PLZghVyyU8IvaxVD1SdpaXUU8OHogVZnHr
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Vitamin a
Vitamin A is a yellow-colored fat-soluble vitamin derived from carotenoids. It has direct or indirect effects on skin growth and protection, epithelial tissues, bones, teeth, vision and reproduction. Deficiency can cause night blindness, dry and scaly skin, impaired epithelial tissue growth, susceptibility to infections, dryness and inflammation of mucus membranes, insomnia, and acne. Good sources include carrots, sweet potatoes, spinach, pumpkin, papaya, milk, mangoes, cantaloupe, and oils from palm and palm kernel. Toxicity from excess intake can cause nausea, headaches, fatigue, loss of appetite, dizziness, dry skin, and birth defects if taken in excess during
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LIFESTYLE DISEASE--
https://www.youtube.com/playlist?list=PLZghVyyU8IvZwpCNZOoaKON9IrX1Vqsuy
SLIT LAMP-- https://www.youtube.com/playlist?list=PLZghVyyU8IvbyAK5bNBrjiyv1mZHKBa7m
JOINT PAIN--
https://www.youtube.com/playlist?list=PLZghVyyU8IvbF1a40VEGUSZohhPHA9j4l
CLINICAL REFRACTION--
https://www.youtube.com/playlist?list=PLZghVyyU8IvYsAb1q1s8fsXNYkxGJJ6rT
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https://www.youtube.com/playlist?list=PLZghVyyU8IvZ2oUVmgP7KDY29QhaNTMvX
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https://www.youtube.com/playlist?list=PLZghVyyU8IvYXuq-4aldOxXSM34NzGhMU
GLAUCOMA--
https://www.youtube.com/playlist?list=PLZghVyyU8Ivat4wEzY-980K8wF1il3ysH
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NUTRITION--
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THYROID DISEASE--
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ANATOMY & HISTOLOGY OF CONJUNCTIVA
The conjunctiva is a mucous membrane that lines the inner surface of the eyelids and covers the anterior portion of the eye. It has three parts - the marginal, tarsal, and orbital conjunctiva. The marginal conjunctiva extends from the eyelid margin to the subtarsal fold. The tarsal conjunctiva is firmly attached to the tarsal plate. The orbital conjunctiva lies loosely over underlying structures. Histologically, the conjunctiva has an epithelial layer, adenoid layer, and fibrous layer. The epithelial layers vary between regions from stratified squamous to columnar epithelium. The adenoid layer contains lymphocytes and the fibrous layer consists of collagen and elastic fibers with blood vessels and nerves
Hirschberg test
The Hirschberg test provides an objective estimate of the angle of a manifest squint by measuring the deviation of the corneal light reflex from the center of the pupil in the squinting eye when the patient fixates on a point light held 33cm away. Each millimeter of deviation roughly equals 7 degrees of squint, with 15 degrees indicated if the light reflex reaches the pupil border and 45 degrees if it reaches the limbus.
Maddox rod
1. The Maddox rod test uses a red or white lens with parallel cylinders to convert a point light source into a vertical streak of light, which is used to assess the type and size of strabismus.
2. The test procedure involves placing the Maddox rod in front of one eye to see a vertical streak while fixating on a distant light with both eyes. The relative position of the streak compared to the light indicates the type of strabismus.
3. The amount of strabismus is measured by adding prisms until the streak is seen passing through the light, indicating the strength of prism needed to align the eyes.
Maddox wing
The Maddox wing is an instrument used to measure the amount of near phoria at 33cm through dissociating two dissimilar images seen by each eye. To administer the test, the right eye views a red and white arrow on a scale while the left eye views only the numbers on the scale, with the patient identifying the number indicated by the arrows' positions. The test requires a brightly lit room and the patient wearing any needed optical correction.
Ophthalmoscope
Ophthalmoscopy is a test performed during an eye exam that allows a health professional to examine the interior structures of the eye, especially the retina, using an ophthalmoscope. There are two main types - direct ophthalmoscopy, where the health professional looks directly into the eye, and indirect ophthalmoscopy, where a light is shone into the eye so the health professional can view the retina through a lens. Ophthalmoscopy is used to check for signs of eye diseases and conditions like cataracts, macular degeneration, and retinal tears or detachments.
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Basavarajeeyam - Ayurvedic heritage book of Andhra pradesh
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Phakomatosis
- 2. WHAT IS?? • PHAKOMATOSIS IS A GROUP OF CONDITION IN WHICH THERE ARE CONGENITAL. • PHAKOMATOSIS USUALLY BENIGN TUMORS OF THE BLOOD VESSELS OR NEURAL TISSUES. • THEY ARE OFTEN OCULAR, CUTANEOUS AND INTRACRANIAL IN LOCATION.
- 3. CONDITIONS • NEUROFIBROMATOSIS –VON RECKLINGHAUSEN • TUBEROUS SCLEROSIS --- BOURNEVILE • ANGIOMATOSIS RETINAE WITH CEREBELLAR HEMANGIOBLASTOMA. – VON HIPPLE- LINDAU • ENCEPHALOTRIGEMINAL ANGIOMATOSIS. – STURGE-WEBER • ATAXIA TELANGIECTASIA --- LOUIS-BAR • ENCEPHALO-RETINO-FACIAL ANGIOMATOSIS --- WYBURN MASON
- 4. NEUROFIBROMATOSIS • Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation in your genes.
- 5. TUBEROUS SCLEROSIS • Tuberous sclerosis is a rare disease that causes tumors, or growths, in the brain and other organs. These growths can occur in the skin, kidneys, eyes, heart, or lungs. They are usually benign (non- cancerous). The first signs of tuberous sclerosis may occur at birth.
- 6. ANGIOMATOSIS RETINAE WITH CEREBELLAR HEMANGIOBLASTOMA • A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). This tumor accounts for about 2% of brain tumors.
- 7. ENCEPHALOTRIGEMINAL ANGIOMATOSIS • Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve.
- 8. ATAXIA TELANGIECTASIA • Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome.
- 9. ENCEPHALO-RETINO-FACIAL ANGIOMATOSIS • The inheritance pattern of cerebrofacial angiomatosis, or Sturge- Weber syndrome, is sporadic. The characteristic skin lesion in Sturge- Weber syndrome is nevus flammeus (port-wine stain), an angioma involving skin and subcutaneous tissues that usually follow the distribution of CN V (the trigeminal nerve).
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