Abstract
Intracranial calcification and microcephaly, which represent the main clinical features
of the TORCH-syndrome, can also be determined by a rare autosomal recessive infection-like
condition named pseudo-TORCH syndrome. This emerging entity has been registered in
eight families so far. We report on five 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
cerebral calcification, spasticity and seizures are the main clinical features, and
have been present in almost all patients reported so far. On the contrary, findings
resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia,
thrombocytopenia, and hepatomegaly, affect less than half of the patients.Considering
the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and
cerebral calcification is necessary since an early diagnosis may allow adequate genetic
counseling to the families.
Keywords
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Article info
Publication history
Accepted:
October 18,
2000
Received in revised form:
October 18,
2000
Received:
June 5,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
