Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria

Intracranial calcification and microcephaly, which represent the main clini cal features of the TORCH-syndrome, can also be determined by a rare autoso mal recessive infection-like condition named pseudo-TORCH syndrome. This em erging entity has been registered in eight families so far. We report on fi ve patients from three unrelated Italian families affected by pseudo-TORCH syndrome. Reevaluation of literature allowed us to draw a specific clinical profile of the syndrome. Indeed, congenital microcephaly, congenital cereb ral calcification, spasticity and seizures are the main clinical features, and have been present in almost all patients reported so far. On the contra ry, findings resembling congenital infectious diseases including neonatal i cterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half of the patients. Considering the diagnosis of pseudo-TORCH syndr ome in patients with neonatal microcephaly and cerebral calcification is ne cessary since an early diagnosis may allow adequate genetic counseling to t he families. (C) 2001 Elsevier Science B.V. All rights reserved.