Leukodystrophies
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This document summarizes several genetic leukodystrophies, including their inheritance pattern, affected enzyme or gene, clinical features, and MRI appearance. It describes adrenoleukodystrophy as an X-linked disorder caused by ABCD1 gene defects that leads to failure of peroxisomal fatty acid oxidation and can present as childhood cerebral adrenoleukodystrophy, adrenomyeloneuropathy, or Addison's disease. On MRI, it shows a characteristic pattern of different intensities in the central white matter. Zellweger syndrome is an autosomal recessive peroxisomal disorder caused by PEX1 defects that results in facial features, hepatomegaly, renal cysts, and diffuse
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This document discusses various pediatric leukodystrophies and white matter disorders that can be evaluated on radiological imaging. It provides descriptions of diseases such as Canavan disease, Alexander disease, Van der Knapp disease, Krabbe disease, GM1 and GM2 gangliosidoses, galactosemia, and Kearns-Sayre syndrome. It discusses the characteristic imaging findings and patterns of involvement for each disease to help with diagnosis. Approaches for evaluating pediatric white matter disorders based on features like macrocephaly, subcortical or deep white matter involvement, and thalamic abnormalities are also outlined.
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This document provides an overview of the cerebellum. It discusses the gross anatomy, radiographic appearance, development, functional divisions, blood supply, and common pathologies of the cerebellum. Key points covered include the connections between the cerebellum and brainstem, the cortical layers and circuitry, the phylogenetic and functional roles of different cerebellar regions, and common causes of cerebellar ataxia including vascular, infectious, autoimmune, metabolic, neoplastic and inherited etiologies. Diagrams are provided to illustrate cerebellar anatomy and examples of various cerebellar lesions.
Fornal2
This case report describes a 67-year old female patient who presented with speech disorders, signs of extrapyramidal syndrome including bradykinesia and rigidity. MRI showed a stroke in the right basal ganglia. Over time, her symptoms progressed to include dysarthria, inability to move her eyes vertically, falls, and instability. A follow-up MRI showed atrophy of the midbrain, suggesting a diagnosis of progressive supranuclear palsy (PSP), a rare neurodegenerative tauopathy. While PSP typically progresses slowly over years, this case was unusual in that symptoms intensified rapidly following the basal ganglia stroke, making the diagnosis more challenging.
Skeletal dysplasia
An Overview of Skeletal Dysplasia. Abnormality of skeleto muscular system resulting into deformities, growth arrest and functionalLimitations
Cns
This document provides an overview of how to approach a patient presenting with central nervous system (CNS) disorders. It discusses the main presenting complaints of CNS disorders and how to approach diagnosis by determining the location and etiology of any lesions. Key aspects of history taking and physical examination focused on the CNS are outlined. Important investigations and how to locate lesions in the brain, spinal cord, and sensory pathways are also summarized.
Approach to a case of ataxia
This document discusses different types of ataxia, including their causes and clinical features. It begins by defining ataxia as a lack of muscle coordination during voluntary movements. It then covers various forms of ataxia such as cerebellar ataxia (the most common type), sensory ataxia affecting proprioception, cortical ataxia involving the frontal lobe, and thalamic ataxia. The document also discusses the classification of cerebellar ataxias into hereditary forms like autosomal dominant and recessive types, as well as the clinical assessment and diagnostic approach for ataxia.
03 01-06 approach to ataxia
This document provides an overview of ataxia, including its definition, causes, clinical features, classifications, hereditary forms, and spinocerebellar ataxia (SCA). Key points include: Ataxia is caused by dysfunction of the cerebellum and its pathways, resulting in loss of coordination. Common clinical features are gait and limb ataxia, dysarthria, and gaze abnormalities. Causes include genetic, paraneoplastic, infectious, autoimmune, and others. Hereditary forms include autosomal dominant and recessive SCAs, Friedreich's ataxia, and more. SCA is the most common hereditary ataxia and subtypes are distinguished by their clinical
Hereditary Ataxia
This document provides an overview of the approach to evaluating and diagnosing ataxia. It defines ataxia and describes how it can be caused by lesions in the cerebellum, posterior column, or vestibular system. It then discusses the clinical features, investigations, and treatment of various causes of ataxia, including cerebellar lesions, hereditary ataxias like Friedreich's ataxia and ataxia telangiectasia, metabolic disorders, and more. The document emphasizes taking a thorough history and examination to identify features that can help determine the underlying cause of ataxia in each patient.
Neurodegerative Disorder.pptx
This document summarizes several neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and multiple sclerosis. The key points are:
1) Neurodegenerative diseases are characterized by the progressive loss of neurons affecting functional groups. The common pathologic process is the accumulation of protein aggregates in the brain.
2) Alzheimer's disease is the most common cause of dementia and is characterized by amyloid plaques and neurofibrillary tangles leading to neuronal death. Parkinson's disease results from the loss of dopamine neurons in the substantia nigra. Huntington's disease is an inherited disorder caused by a CAG repeat expansion leading to chorea.
3
Neurodegerative Disorder.pptx
This document summarizes several neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and multiple sclerosis. The key points are:
1) Neurodegenerative diseases are characterized by the progressive loss of neurons affecting functional groups. The common pathologic process is the accumulation of protein aggregates.
2) Alzheimer's disease is the most common cause of dementia and is characterized by amyloid plaques and neurofibrillary tangles leading to neuronal death. Parkinson's disease results from the loss of dopamine neurons in the substantia nigra. Huntington's disease is an inherited disorder caused by a trinucleotide repeat expansion leading to chorea.
3)
Ataxia
This document provides information on ataxia, including its definition as a neurological disorder involving lack of voluntary muscle coordination. It describes the main types of ataxia and several specific hereditary forms. Key points include Friedreich's ataxia being the most common hereditary form, typically beginning in childhood. Imaging tests and lab work can help evaluate for various causes, while genetic testing can confirm hereditary types. Overall the document outlines the classification, causes, clinical features and investigative approach for ataxia.
Sturge weber syndrome
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.
Approach to ataxia
The document discusses different types and causes of ataxia. It describes ataxia as a lack of coordination involving gait, limbs and speech caused by lesions in the cerebellum or its pathways. Various hereditary forms of ataxia are discussed, including autosomal dominant and recessive cerebellar ataxias such as Friedreich's ataxia. Acquired forms such as paraneoplastic cerebellar degeneration, immune-mediated ataxias, and ataxias caused by toxins or metabolic derangements are also summarized. The diagnostic approach involves a detailed history, neurological exam, and ancillary tests including imaging, bloodwork and genetic testing to determine the cause of ataxia in each
Locked in syndrome secondary a multiform glioblastoma in brain stem. ARTURO A...
Locked in syndrome secondary a multiform glioblastoma in brain stem. ARTURO A...Arturo Ayala-Arcipreste
This document describes a rare case of a 48-year-old male who presented with progressive neurological symptoms and was eventually diagnosed with a locked-in syndrome secondary to a multiform glioblastoma tumor located in his lower pons, medulla, and cervical spinal cord. Locked-in syndrome is typically caused by a stroke, but can also be caused by demyelinating diseases or tumors. MRI imaging showed an irregular, enhancing tumor in these areas. A biopsy was performed and pathology found a high-grade astrocytoma. The patient's condition deteriorated and he died one week later, making this a unique case of a brainstem glioblastoma in an adult presenting as locked-in syndrome.Cerebral tumors 1
The document discusses brain tumors and their classification. It provides details about:
1) Primary brain tumors can arise from neurons, glia or meninges and metastases can spread from other organs. Prognosis depends on histology and location.
2) Brain tumors are classified based on their cell of origin - the majority are neuroepithelial tumors like gliomas and astrocytomas.
3) Symptoms vary based on tumor location but commonly include headaches, seizures, and neurological deficits.
Genetic stroke syndrome
This document discusses several genetic stroke syndromes and their characteristics. It covers disorders such as Fabry disease, sickle cell disease, CADASIL, MELAS, moyamoya disease, and homocystinuria. For each syndrome, it describes the clinical presentation, genetic causes, diagnostic criteria including relevant imaging findings, and treatment options when available. The document provides an overview of monogenic disorders that can present with stroke at a young age and their distinguishing genetic and clinical features.
Stroke In Children
1) Pediatric strokes account for less than 5% of all strokes and affect 2-3 in 100,000 newborns and 12 in 100,000 children under 18 years of age. The annual incidence of pediatric strokes is reported to be between 2.5-2.7 per 100,000 children.
2) Risk factors for pediatric strokes include congenital heart defects, sickle cell anemia, coagulation disorders, and other conditions.
3) Prognosis after a pediatric stroke varies depending on the underlying cause, with 80% of children surviving 10 years after an ischemic stroke though most have residual hemiparesis. Hemorrhagic strokes carry a higher mortality risk than ischemic strokes.
Diet and disease-CEREBRAL PALSY
This document provides an overview of cerebral palsy including its history, types, causes, symptoms, diagnosis, and treatment. It defines cerebral palsy as a non-progressive brain injury occurring in early childhood that causes lifelong movement problems. The major types of cerebral palsy are described based on affected limbs and muscle tone abnormalities. Assessment involves physical exams, imaging, and developmental tests to diagnose type and severity in order to determine an individualized treatment plan involving medications, surgery, therapies, and equipment.
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Locked in syndrome secondary a multiform glioblastoma in brain stem. ARTURO A...
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The document describes the examination of the motor system, including inspection of muscle state, tone, power, and reflexes. Inspection assesses muscle size, fasciculations, movements, and deformities. Tone is tested through passive movements and shaking/lifting techniques to identify hypotonia or hypertonia. Muscle power is graded from 0-5 based on strength against resistance. Specific muscles are then tested individually at each major joint.
Management of advanced parkinson’s disease
This document provides information on the management of advanced Parkinson's disease. It discusses the motor and non-motor symptoms that become most prominent in advanced stages, including gait and balance issues, dyskinesias, cognitive and behavioral changes, and autonomic dysfunction. It describes assessment scales used to stage Parkinson's severity and outlines approaches to treating various motor and non-motor complications through medication adjustments, surgical interventions like deep brain stimulation, and management of symptoms like constipation, urinary issues, and drooling.
Higher visual dysfunction
The document discusses higher visual dysfunction and disorders that can result from damage to different parts of the visual pathway and visual processing streams in the brain. It describes how visual information is processed from the eyes to the primary visual cortex and then into two streams - the ventral "what" stream for object recognition and the dorsal "where" stream for spatial processing. It then provides details on four specific disorders: visual agnosia (failure to recognize objects), achromatopsia (loss of color vision), pure alexia (impaired reading ability despite normal writing), and prosopagnosia (inability to recognize faces). Each disorder is caused by damage to different regions of the visual system and results in unique symptoms and challenges for
Facial nerve anatomy, pathology
The document discusses the anatomy, examination, diagnosis, and treatment of facial nerve palsy. It describes the motor, parasympathetic, and sensory parts of the facial nerve and their origins and functions. Examination of the frontal branch and tests for synkinesis, lacrimation, gustation, and sialometry can localize lesions. Bell's palsy is an acute idiopathic peripheral palsy without other cranial nerve involvement. Treatment may include corticosteroids, antivirals, corneal protection, decompression, and physiotherapy. Complications can include incomplete recovery or synkinesis.
Stroke guidelines
The document summarizes current guidelines on the use of tPA and endovascular treatment for acute ischemic stroke based on major clinical trials. It finds that early trials using intra-arterial tPA and first-generation devices showed limited benefit, but more recent trials using stent retrievers demonstrated improved recanalization rates and outcomes when endovascular treatment was initiated within 6 hours of stroke onset. The highest rates of functional independence were seen in patients who achieved near complete or complete recanalization.
Storage disease
This document summarizes several glycogen storage diseases and lysosomal storage diseases. For glycogen storage diseases, it lists the enzyme deficiency, symptoms such as hypoglycemia and hepatomegaly, and mnemonics to remember each disease. For lysosomal storage diseases, it provides the deficient enzyme, accumulated substrate, inheritance pattern, and key findings for each condition. It concludes by highlighting some distinguishing features between similar diseases, such as neurological symptoms in Niemann-Pick versus Gaucher's, and differences between Hunter's and Hurler's syndromes.
Neuro opthalmology
This document provides an overview of neuro-opthalmology, including:
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- Common causes of ischemic optic neuropathy and optic neuritis.
- Localization of different visual field defects based on lesion location.
- Syndromes associated with occipital lobe lesions like Anton syndrome and Balint's syndrome.
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Congenital malformations of the skull
This document describes several congenital skull malformations caused by premature closure of skull sutures, including scaphocephaly, trigonocephaly, brachycephaly, and plagiocephaly. It also lists several genetic syndromes that are associated with craniosynostosis and details some of their characteristic features, such as Crouzon syndrome which involves coronal suture closure and can cause shortening of the anterior cranial fossa along with proptosis and potentially hearing loss or brain malformations.
Brain anomalies
This document lists and describes various congenital disorders of the brain, including malformations such as lissencephaly, pachygyria, polymicrogyria, schizencephaly, porencephaly, and hydranencephaly. It also discusses holoprosencephaly (divided into alobar, semilobar, and lobar), syntelencephaly, anencephaly, encephalocele, septo-optic dysplasia, Dandy-Walker syndrome (divided into malformation and variant), and Chiari syndrome (divided into types I-V). Images are provided for some conditions.
Tcd - Transcranial doppler values
This document provides diagnostic values for transcranial Doppler ultrasound in evaluating cerebral vasospasm. It lists normal and vasospasm velocity ranges for major cerebral arteries. It also outlines how mean velocity measurements and velocity ratios can be used to grade the severity of vasospasm in the middle cerebral artery and basilar artery compared to angiography findings. The Lindegaard ratio compares middle cerebral artery and internal carotid artery velocities to differentiate increased velocity due to vasospasm versus hypervolemia.
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The document provides an overview of the Relative Value Unit (RVU) system used by CMS to determine medical service fees. It explains that the RVU system assigns a value to physician services, practice expenses, and malpractice expenses. The total fee for a service is calculated by multiplying the conversion factor by the sum of the RVUs. Each year, CMS may update the conversion factor and RVUs. The document also lists important CPT codes for neurology services along with their equivalent physician RVUs to help neurologists understand how fees are determined.
Antihypertensive
This document summarizes several drugs used to treat hypertension and tachycardia, including labetalol, esmolol, nicardipine, sodium nitroprusside, nitroglycerin, hydralazine, fenoldopam, and clevidipine. For each drug, it provides the initial dose, maximum dose, mechanism of action, site of vasodilation, onset time, duration of action, metabolism pathway, and any important notes. The drugs have different mechanisms including alpha/beta blockade, beta1 blockade, calcium channel blockade, nitric oxide effects, and D1 agonism. Nicardipine and fenoldopam are noted as preferred options in certain conditions.
Vasopressors
This document summarizes several vasopressors and inotropes used in clinical practice including their dosage, mechanism of action, effects on heart rate, systolic function, diastolic function, systemic and pulmonary vascular resistance, as well as their recommended uses and cautions. Norepinephrine is recommended as first line for septic and cardiogenic shock. Dopamine is recommended for heart failure while phenylephrine is used for neurogenic shock, hypotension, and as a second line agent. Vasopressin and milrinone are also discussed as alternatives.
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All what you need to know about medications used to treat Parkinson's disease patients. Doses, mechanism and side effects.
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Emperical antibiotics in ICU
This document provides guidelines for empirical antibiotic coverage for various infections that may be encountered in the intensive care unit (ICU). It lists the first and second line antibiotic options for conditions like hospital-acquired pneumonia/ventilator-associated pneumonia (HAP/VAP), urinary tract infections (UTI), Clostridium difficile infections, cellulitis, surgical site infections, and surgical prophylaxis. It also provides the treatment duration for each condition and prices of commonly used antibiotics.
Multiple sclerosis disease modifying therapies
This document summarizes disease-modifying therapies for multiple sclerosis including self-injectable drugs like interferon beta-1a and glatiramer acetate, oral drugs like fingolimod and teriflunomide, intravenous drugs like natalizumab and ocrelizumab, and comparison of their effects on annualized relapse rate, EDSS progression, new MRI lesions, and percentage achieving relapse-free status over 2 years based on clinical trials. It also discusses risk factors for progressive multifocal leukoencephalopathy (PML) with natalizumab treatment and acute relapse treatment options.
New oral anticoagulants
The document summarizes key details of new oral anticoagulant drugs (NOADs) that are alternatives to warfarin for preventing strokes. It lists 5 NOADs - dabigatran, rivaroxaban, apixaban, edoxaban - along with their brand names, FDA approval dates, dosing information, costs, and reversal agents. It also provides a brief overview of each drug's pharmacokinetic properties including time to peak levels, half-life, drug interactions, and renal clearance compared to warfarin. The document concludes by summarizing findings from major clinical trials on each NOAD's efficacy and safety compared to warfarin in reducing risks of stroke, intracranial
Child Development Milestones
This document outlines typical developmental milestones in gross motor skills, fine motor skills, language, and social/cognitive abilities for children from 2 months to 5 years of age. Gross motor skills progress from lifting the head and rolling to walking, running, jumping and climbing stairs. Fine motor skills start with grasping toys and tracking objects and advance to using utensils, tying shoes, and printing letters. Language develops from cooing and babbling to using words and sentences of increasing length and complexity. Social and cognitive skills grow from recognizing caregivers and responding to sounds to following commands, pretend play, and basic academic concepts like colors and numbers.
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These lecture slides, by Dr Sidra Arshad, offer a simplified look into the mechanisms involved in the regulation of respiration:
Learning objectives:
1. Describe the organisation of respiratory center
2. Describe the nervous control of inspiration and respiratory rhythm
3. Describe the functions of the dorsal and respiratory groups of neurons
4. Describe the influences of the Pneumotaxic and Apneustic centers
5. Explain the role of Hering-Breur inflation reflex in regulation of inspiration
6. Explain the role of central chemoreceptors in regulation of respiration
7. Explain the role of peripheral chemoreceptors in regulation of respiration
8. Explain the regulation of respiration during exercise
9. Integrate the respiratory regulatory mechanisms
10. Describe the Cheyne-Stokes breathing
Study Resources:
1. Chapter 42, Guyton and Hall Textbook of Medical Physiology, 14th edition
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Cell Therapy Expansion and Challenges in Autoimmune Disease
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
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Breast cancer: Post menopausal endocrine therapy
Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
Diagnosis and Staging
The diagnosis of HR+ breast cancer begins with clinical evaluation, imaging, and biopsy. Imaging modalities such as mammography, ultrasound, and MRI help in assessing the extent of the disease. Histopathological examination and immunohistochemical staining of the biopsy sample confirm the diagnosis and hormone receptor status by identifying the presence of estrogen receptors (ER) and progesterone receptors (PR) on the tumor cells.
Staging involves determining the size of the tumor (T), the involvement of regional lymph nodes (N), and the presence of distant metastasis (M). The American Joint Committee on Cancer (AJCC) staging system is commonly used. Accurate staging is critical as it guides treatment decisions.
Treatment Options
Endocrine Therapy
Endocrine therapy is the cornerstone of treatment for HR+ breast cancer in postmenopausal women. The primary goal is to reduce the levels of estrogen or block its effects on cancer cells. Commonly used agents include:
Selective Estrogen Receptor Modulators (SERMs): Tamoxifen is a SERM that binds to estrogen receptors, blocking estrogen from stimulating breast cancer cells. It is effective but may have side effects such as increased risk of endometrial cancer and thromboembolic events.
Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
Combination Therapies
Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
Endocrine Therapy with mTOR Inhibitors: Everolimus, an mTOR inhibitor, can be added to endocrine therapy for patients who have developed resistance to aromatase inhibitors.
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Leukodystrophies
- 1. LIGHTS On RITE by Ahmed Koriesh Clinical Pediatric Neurology ADRENOLEUKODYSTROPHIES: Disease Inheritance Enzyme Clinical Picture MRI Adrenoleukodystrophy “Peroxisomal” XL-R ABCD gene Failure of peroxisomal oxidation of VLCFA 3 Phenotypes: - Childhood cerebral adrenoleukodystrophy - Adrenomyeloneuropathy - Addison’s disease - Posterior - Spares U fibers - 3 zones of different intensities in T2 (inner hyper, middle Iso and outer hypo) Zellwiger (cerebrohepatorenal syndrome) “Peroxisomal” AR PEX1 gene Absence of peroxisomes - Facies: high forehead, midface hypoplasia - Hepatomegally – Renal cysts - Diffuse hypomyelination involving U fibers - Gyral abnormalities (frontal microgyria , occipital pachygyriia) Metachromatic “Lysosomal” AR ARSA gene Arylsulfatase - Late infantile: gait abnormality, muscle rigidity, loss of vision, developmental delay - Juvenile: slower course - Adult: dementia – psychiatric features - Periventricular - Spares U fibers leading to a "butterfly pattern" Krabbe (Globoid cell) “Lysosomal” AR GALC gene Galactocerebrosidase Peripheral neuropathy, developmental delay, optic atrophy, globoid cells CT: Hyperdense thalami MRI: Periventricular Fabry “Lysosomal” XL-R Galactosidase Posterior circulation strokes - Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular disease Pulvinar hyperintensity Canavan (spongiform degeneration of white matter) “Amino-acid” Aspartocyclase Macrocephaly, severe mental deficits and blindness. Macrocephaly Diffuse hypomyelination involving U fibers Increased NAA in MRS Alexander “Fibrinoid” GFAP gene Macrocephaly, severe mental deficits Rosenthal fibers in pathology Macrocephaly Frontal predominance