THE AUTOSOMAL RECESSIVE CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME OF MICROCEPHALY, INTRACRANIAL CALCIFICATION, AND CNS DISEASE - REPORT OF ANOTHER BEDOUIN FAMILY

We describe a Bedouin family with the rare autosomal recessive infecti on-like syndrome of microcephaly, intracranial calcification and CNS d isease that has so far been documented in only eight families includin g one from Kuwait. In the present family, the female proband had conge nital microbrachycephaly, hypertonia, early-onset tonic-clonic seizure s, a palpable liver and mild pulmonary stenosis. Follow-up examination of the girl identified delayed developmental milestones while head CT scan revealed partial agenesis of the corpus callosum, brain atrophy, dilated ventricles and scattered calcific foci in the caudate nuclei, the thalami, and the periventricular white matter. The possibility of intrauterine TORCH infection was excluded by the negative results of repeated immunovirology study and by the failure to recover viral incl usions in urine cultures. The proband had three apparently affected co usins with spasticity and CT findings of microcephaly and intracranial calcification. Other previously documented cases with the congenital intrauterine infection-like syndrome are reviewed. (C) Chapman & Hall Ltd.