Congenital intrauterine infection-like syndrome
Alternate names[edit | edit source]
Band-like calcification with simplified gyration and polymicrogyria ; BLCPMG ; BLC-PMG; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; Bilateral band-like calcification with polymicrogyria; Microcephaly - intracranial calcification - intellectual disability; Pseudo-TORCH syndrome; Microcephaly-intracranial calcification-intellectual disability syndrome
Definition[edit | edit source]
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
Epidemiology[edit | edit source]
More than 30 cases have been described in the literature so far.
Cause[edit | edit source]
The cause remains unknown.
Inheritance[edit | edit source]
Several familial cases, compatible with an autosomal recessive pattern of inheritance, have been described.
Signs and symptoms[edit | edit source]
- The signs and symptoms of the reported cases is rather heterogeneous with variable manifestations including intrauterine growth retardation, hepatosplenomegaly, hyperbilirubinaemia, cerebellar hypoplasia or atrophy, and congenital cataract.
- Affected individuals with associated thrombocytopaenia have also been reported but it has been suggested that these patients may have a distinct subtype.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Cerebral calcification(Abnormal deposits of calcium in the brain)
- Hyperreflexia(Increased reflexes)
- Microcephaly(Abnormally small skull)
- Seizure
- Spasticity(Involuntary muscle stiffness, contraction, or spasm)
30%-79% of people have these symptoms
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
5%-29% of people have these symptoms
- Cataract(Clouding of the lens of the eye)
- Opacification of the corneal stroma
- Renal insufficiency(Renal failure)
Diagnosis[edit | edit source]
Diagnosis relies on the clinical picture and requires exclusion of intrauterine infections.
Treatment[edit | edit source]
Treatment is symptomatic only.
NIH genetic and rare disease info[edit source]
Congenital intrauterine infection-like syndrome is a rare disease.
Congenital intrauterine infection-like syndrome Resources | ||
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