Search results for “cerebral atrophy”

29 results found

Progressive cerebral atrophy: pediatric

 Diagnosis probable
Dr Ian Bickle
Published 22 Apr 2017
68% complete

Congenital cerebral toxoplasmosis

Congenital cerebral toxoplasmosis is a manifestation of congenital toxoplasmosis and refers to development of cerebral toxoplasmosis in the fetus through maternal transmission. Please refer on congenital toxoplasmosis to a broad discussion on epidemiology and pathology.  Radiographic features ...

Myoclonic epilepsy with red ragged fibers (MERRF)

Myoclonic epilepsy with red ragged fibers (MERRF) is a rare, multisystem mitochondrial disorder.  Clinical presentation Patients usually present in late adolescence or early adulthood with 1-3 myoclonus epilepsy cerebellar ataxia intellectual disability vision and/or hearing loss cardiom...

Hemiconvulsion-hemiplegia epilepsy syndrome

Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy. It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...

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...

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...

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...

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...

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....

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...

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...

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...


Fucosidosis (plural: fucosidoses) is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products. Epidemiology It is considered very rare, with approxi...

Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.  Clinical presentation The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare inherited autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration.  Epidemiology The age at symptoms m...

Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. This leads to early cataract formation, atherosclerosis, hypercholesterolemia, and tendinous xanthomas.  Clinical presentation Clinically ce...

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Clinical presentation cha...

Moyamoya disease

Moyamoya disease is an idiopathic, non-inflammatory, non-atherosclerotic progressive vasculo-occlusive disease involving the circle of Willis, typically the supraclinoid internal carotid arteries.  Terminology The term moyamoya disease should be reserved for an idiopathic, sometimes familial, ...

Benign enlargement of the subarachnoid space in infancy

Benign enlargement of the subarachnoid spaces in infancy (BESS or BESSI) also known as benign external hydrocephalus (BEH) is, as per the name, a benign enlargement of the subarachnoid spaces in infants. It usually involves the frontal lobe subarachnoid spaces, and it is characterized clinically...

Congenital cytomegalovirus infection

Congenital cytomegalovirus infections result from intra-uterine fetal infection by cytomegalovirus (CMV).  Epidemiology CMV is the most common cause of intra-uterine infection and the most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births.  Antibodies...

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