Congenital intrauterine infection-like syndrome

Alternate names

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

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

More than 30 cases have been described in the literature so far.

Cause

The cause remains unknown.

Inheritance

File:Autorecessive.svg

Autosomal recessive inheritance, a 25% chance

Several familial cases, compatible with an autosomal recessive pattern of inheritance, have been described.

Signs and symptoms

• 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

Diagnosis relies on the clinical picture and requires exclusion of intrauterine infections.

Treatment

Treatment is symptomatic only.

NIH genetic and rare disease info

• NIH info on Congenital intrauterine infection-like syndrome

Congenital intrauterine infection-like syndrome is a rare disease.