title: The autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease: report of another Bedouin family.
abstract: We describe a Bedouin family with the rare autosomal recessive infection-like syndrome of microcephaly, intracranial calcification and CNS disease that has so far been documented in only eight families including one from Kuwait. In the present family, the female proband had congenital microbrachycephaly, hypertonia, early-onset tonic-clonic seizures, 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 inclusions in urine cultures. The proband had three apparently affected cousins with spasticity and CT findings of microcephaly and intracranial calcification. Other previously documented cases with the congenital intrauterine infection-like syndrome are reviewed.
authors.affiliation: Medical Genetics Centre, Maternity Hospital, Kuwait.
authors.forename: R
authors.initials: R
authors.lastname: al-Dabbous
authors.forename: M A
authors.initials: MA
authors.lastname: Sabry
authors.forename: S
authors.initials: S
authors.lastname: Farah
authors.forename: S A
authors.initials: SA
authors.lastname: al-Awadi
authors.forename: S
authors.initials: S
authors.lastname: Simeonov
authors.forename: T I
authors.initials: TI
authors.lastname: Farag
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D018912:Arabs / Q000235:genetics; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics*; D002493:Central Nervous System Diseases / Q000151:congenital* / Q000235:genetics*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007239:Infections / Q000151:congenital* / Q000235:genetics*; D007730:Kuwait; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed