31 results found
Article
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...
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...
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
Moyamoya disease
Moyamoya disease is an idiopathic, non-inflammatory, non-atherosclerotic progressive vaso-occlusive disease involving the terminal supraclinoid internal carotid arteries and circle of Willis.
Terminology
The term moyamoya disease should be reserved for an idiopathic, sometimes familial, cond...
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
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
cardiomyo...
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
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
Syphilis
Syphilis is the result of infection with the gram-negative spirochete Treponema pallidum, subspecies pallidum. It results in a heterogeneous spectrum of disease with many systems that can potentially be involved, which are discussed separately.
Epidemiology
Despite the discovery of penicillin...
Article
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...
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...
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
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...
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
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...
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
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
...
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
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare inherited autosomal recessive leukodystrophy characterized by slowly progressive pyramidal, cerebellar, and dorsal column dysfunction.
Epidemiology
Although considered rare, the exact prevalen...
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...