126 results found
Article
Variably protease-sensitive prionopathy
Variably protease-sensitive prionopathy (VPSPr) is a very rare type of sporadic human prion disease that was first described in 2008.
Epidemiology
Variably protease-sensitive prionopathy is very rare, with an annual incidence of 1-2 per million 5.
Clinical presentation
Clinical presentation ...
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
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
Cella media index
The cella media index (also known as Schiersmann's index) is one of the methods used to assess ventricle size with respect to brain tissue and cerebral atrophy. It is the ratio of biparietal diameter of skull to maximum external diameter of bodies of the lateral ventricles (cella media) 1.
A no...
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
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
Neuroferritinopathy
Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19.
Epidemiology
Neuroferritinopathy is a rare disorder first described in 2001 ...
Article
Subdural hygroma
Subdural hygromas (alternative plural: hygromata 9) refer to the accumulation of fluid in the subdural space. In many cases, it is considered an epiphenomenon of head injury when it is called a traumatic subdural hygroma.
Epidemiology
Subdural hygromas are encountered in all age-groups but ar...
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
Parry-Romberg syndrome
Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), is a rare progressive craniofacial disorder (phakomatosis).
It is classically characterized by a slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involve...
Article
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...
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
Sturge-Weber syndrome (mnemonic)
Some key findings pertaining to Sturge-Weber syndrome may be recalled using the following mnemonics:
STURGE CAPS
8 Cs
Mnemonics
STURGE CAPS
S: seizures, sporadic
T: tram-track gyriform calcification; trigeminal territory port-wine stain
U: unilateral weakness (hemiparesis contralateral to...
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...
Article
Friedreich ataxia
Friedreich ataxia is the most common hereditary progressive ataxia.
Epidemiology
Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection.
Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are t...
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...
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