Search results for “cerebral atrophy”

141 results found
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Sickle cell disease (cerebral manifestations)

Cerebral manifestations of sickle cell disease contribute significantly to the overall morbidity of the disease. Sickle cell disease is among the most common causes of stroke in the pediatric population. For a general discussion of sickle cell disease, please refer to sickle cell disease. Epid...
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Cerebellar hypoplasia

Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time 1,4. The pattern of volume loss maybe regional (affecting only part of the cerebellum) or global.  Terminology Global cereb...
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Biotinidase deficiency

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency. Epidemiology Profound deficiency (<10% of normal level) is estima...
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Alpers syndrome

Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.  Epidemiology Alpers syndrome is incredibl...
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Alzheimer disease

Alzheimer disease (AD) is a common neurodegenerative disease, responsible for 60-80% of all dementias, and imposing a significant burden on developed nations. It is the result of accumulation and deposition of cerebral amyloid-β (Aβ) and is the most common cerebral amyloid deposition disease.  ...
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Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare congenital neurocutaneous syndrome characterized by unilateral lipomas of the cranium, face, and neck, ipsilateral lipodermoids of the eye, and ipsilateral brain anomalies. The clinical features of ECCL ove...
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Chronic traumatic encephalopathy

Chronic traumatic encephalopathy is a neurodegenerative tauopathy that is thought to result from mild repetitive head trauma.  Epidemiology The exact incidence and prevalence are unknown. It is most commonly seen in amateur and professional sports players where head contact is common (e.g. box...
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Menkes disease

Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.  Epidemiology Menk...
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CEC syndrome

CEC syndrome refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1. Epidemiology ...
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Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
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Rasmussen encephalitis

Rasmussen encephalitis, also known as chronic focal encephalitis, is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere. It is not to be confused with a Rasmussen aneurysm. Epidemiology Most cases (85% cases) occur in children under the age of 10 years 1....
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Neurodegenerative MRI brain (an approach)

Imaging of the brain in patients with suspected neurodegenerative conditions is common and challenging, as in patients with subtle and equivocal signs and symptoms, the imaging findings are also subtle and equivocal. In many instances, by the time imaging findings are clear cut, then the patient...
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Ataxia telangiectasia

Ataxia telangiectasia is a rare multisystem disorder which carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections and immunodeficiency.  On brain imaging, it usually demonstrate...
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Neurodegeneration with brain iron accumulation

Neurodegeneration with brain iron accumulation (NBIA), is a heterogeneous group of rare genetic disorders characterized by accumulation of iron in the basal ganglia, which result in variable neurological disorders including extrapyramidal symptoms, neuropsychiatric and visual. Numerous genes (a...
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Transverse fissure

The transverse fissure (of Bichat) is the cerebral fissure that extends laterally from the ambient cistern towards the hippocampus. Gross anatomy The transverse fissure is the lateral extension of the ambient cistern that connects with the choroidal fissure superolaterally and hippocampal fiss...
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Central nervous system curriculum

The central nervous system curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core central nervous system knowledge. Definition  Topics pertaining to the intracranial content (brain, pituitary, dura, intracranial vasculatures). There will be...
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Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous syndrome and leukodystrophy characterized by the clinical triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Epidemiology Although considered very rare, the exact prevalence is not k...
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Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
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Niemann-Pick disease type C

Niemann-Pick disease type c (NPD-C or just NPC) is an autosomal recessive lysosomal storage disorder classed under Niemann-Pick disease on account of clinical similarities, namely hepatosplenomegaly and variable involvement of the central nervous system.  Epidemiology NPD-C is inherited as a a...
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McLeod syndrome

McLeod syndrome, also known as McLeod phenomenon is a rare X-linked syndrome caused by a mutation in the XK gene that results in hematological abnormalities and late-onset, slowly progressive degeneration of a variety of tissues including the brain, peripheral nerves, muscle and heart 1.  It sho...

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