Congenital intrauterine infection-like syndrome

From WikiMD's WELLNESSPEDIA

Alternate names[edit]

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]

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]

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

Cause[edit]

The cause remains unknown.

Inheritance[edit]

Autosomal recessive inheritance, a 25% chance

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

Signs and symptoms[edit]

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

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

Diagnosis[edit]

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

Treatment[edit]

Treatment is symptomatic only.

NIH genetic and rare disease info[edit]

Congenital intrauterine infection-like syndrome is a rare disease.