42 results found
Article
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...
Article
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% of cases) occur in children under the age of 10 years...
Case
Vein of Galen malformation
Published
02 Nov 2015
92% complete
MRI
Article
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 an ...
Case
Hyperdense thalami-perinatal ischemia
Published
06 Nov 2020
77% complete
CT
Article
Tuberous sclerosis
Tuberous sclerosis (TS), also known as tuberous sclerosis complex (TSC) or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterized by the development of multiple benign tumors of the embryonic ectoderm (e.g. skin, eyes, and nervous system).
Epidemiology
Tuberous sclerosi...
Case
Infantile tremor syndrome
Published
24 Mar 2021
65% complete
MRI
Article
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 may be regional (affecting only part of the cerebellum) or global.
Terminology
Global cere...
Article
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...
Case
Sturge-Weber syndrome
Published
14 Oct 2020
77% complete
MRI
Article
Scoliosis
Scoliosis (plural: scolioses) is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities.
Terminology
Early onset sco...
Case
Menkes disease
Published
25 Jun 2012
68% complete
MRI
Article
Patterns of neonatal hypoxic–ischemic brain injury
Neonatal hypoxic ischemic brain injuries can manifest in different patterns of involvement depending on the severity and timing of the insult. When considering the perinatal maturation process of the brain and the severity of an insult, it is possible to understand the various manifestations.
T...
Case
Linear scleroderma
Published
20 Oct 2022
81% complete
Photo
Annotated image
MRI
CT
Case
Benign enlargement of subarachnoid space in infancy
Published
26 Jul 2022
89% complete
MRI
Case
Crossed cerebellar diaschisis in a patient with Dyke-Davidoff-Masson syndrome and a skull vault hemangioma
Published
01 Jan 2024
80% complete
MRI
Article
Leukodystrophies
The leukodystrophies are a heterogeneous group of disorders that primarily affect the white matter of the central nervous system. They are particularly encountered in childhood as many are genetically determined and represent abnormalities in white matter metabolism. A number of leukodystrophies...
Case
Rasmussen encephalitis
Published
21 Jun 2020
75% complete
CT
MRI
Article
Propionic acidemia
Propionic acidemia is a rare organic acidemia caused by a deficiency in the enzyme propionyl coenzyme A carboxylase.
Epidemiology
Propionic acidemia has an incidence of around 1 in 150,000 in the general population 1.
Clinical presentation
Around 80% of children with propionic acidemia wi...
Article
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of many mitochondrial disorders. As mitochondria, which have their own DNA, are exclusively passed on from the mother these disorders are only maternally inherited.
On imaging, it manifests as multifoca...
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