23 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
Hypomelanosis of Ito
Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
Epidemiology
The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...
Article
CHEDDA syndrome
CHEDDA syndrome stands for congenital hypotonia, epilepsy, developmental delay and digital anomalies. Is a newly discovered neurodevelopmental syndrome associated with mutations in a conserved histidine-rich motif within Atrophin-1 (ATN-1).1
Epidemiology
CHEDDA syndrome is very rare, with only...
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
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
Twin embolization syndrome
Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin.
Pathology
It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...
Article
Incontinentia pigmenti
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, especially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males.
Epidemiology
Incontinentia pigmenti is rare and the true pr...
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
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
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
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
Wolfram syndrome (type one)
Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.
Clinical presentation
The syndrome presents initially with type 1 diabetes mellitus, followed by optic atrophy, diabe...
Article
Ataxia-telangiectasia
Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a rare multisystem autosomal recessive disorder, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
On brain imaging, it usually demo...
Article
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
Article
Sneddon syndrome
Sneddon syndrome is a type of systemic non-inflammatory vasculopathy characterized by livedo reticularis and progressive and occlusive cerebrovascular thrombosis involving the medium-sized arteries.
Epidemiology
Sneddon syndrome is more common in females, and tends to affect a young adult popu...
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
Dyke-Davidoff-Masson syndrome
Dyke-Davidoff-Masson syndrome is a condition characterized by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterized by:
thickenin...
Article
Fahr syndrome
Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy.
It can be either primary (usually autosomal dominant) or se...
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