42 results found
Article
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...
Case
Benign enlargement of subarachnoid space in infancy
Published
26 Jul 2022
89% complete
MRI
Article
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...
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
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
Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis.
Clinical presentation
The clinical presentation is highly variable with many potential neurological and other/systemic clinical features 6.
...
Article
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
...
Case
Crossed cerebellar diaschisis in a patient with Dyke-Davidoff-Masson syndrome and a skull vault hemangioma
Published
01 Jan 2024
80% complete
MRI
Case
Dyke-Davidoff-Masson syndrome
Published
23 Jun 2013
77% complete
MRI
Article
Fucosidosis
Fucosidosis 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 approximately only 100 cases ...
Article
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...
Article
Hemorrhagic shock and encephalopathy syndrome
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare pediatric encephalopathy syndrome with a high mortality rate.
Epidemiology
Hemorrhagic shock and encephalopathy syndrome is considered rare, although the exact global incidence and prevalence is not known. The condition occurs in i...
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...
Article
Hurler syndrome
Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).
Epidemiology
The estimated incidence is ~1:100,000.
Clinical presentation
It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Case
Hyperdense thalami-perinatal ischemia
Published
06 Nov 2020
77% complete
CT
Case
Infantile tremor syndrome
Published
24 Mar 2021
65% complete
MRI
Article
Kabuki syndrome
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Epidemiology
The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
Clinical present...
Article
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 ...
Article
Kwashiorkor
Kwashiorkor is a condition characterized by bilateral edema caused by protein deficiency.
Epidemiology
The largest population at risk for the condition are children who have begun weaning from breast milk or formula towards diets without sufficient protein. Therefore, kwashiorkor often affects...
Article
Langerhans cell histiocytosis (CNS manifestations)
The central nervous system (CNS) is an uncommonly involved organ system in Langerhans cell histiocytosis (LCH). Involvement of the CNS is related but distinct from involvement of the skull or craniofacial structures, which are discussed separately in the article skeletal manifestations of LCH. F...
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