title: Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.
abstract: Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handicap. Cerebrospinal fluid (CSF) pleocytosis was present in three children. Neuroimaging with computerized tomography on three boys and a girl showed generalized cortical atrophy, dilatation of the lateral, third, and fourth ventricles, widening of the surface CSF spaces, hypoplasia of the posterior fossa structures, and multiple and solitary calcifications in the cerebral cortex and punctate calcifications involving basal ganglia, cerebellum, and the Sylvian fissure. Histopathological examination of the brain from three boys and one girl confirmed generalized cortical and cerebellar atrophy with widespread calcifications within the cortical grey and white matter, the basal ganglia, the cerebellum, and in some areas along the capillaries. Investigations excluded a possible nongenetic cause. Parental consanguinity favor autosomal recessive inheritance. This appears to be a recognizable syndrome overlapping the syndrome of Aicardi and Goutières (MIM 225750).
authors.affiliation: Clinical Genetics Unit, Sheffield Children's Hospital, Western Bank, United Kingdom.
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: C
authors.initials: C
authors.lastname: Rittey
authors.forename: A H
authors.initials: AH
authors.lastname: Cameron
authors.forename: S
authors.initials: S
authors.lastname: Variend
mesh_terms: D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000473:pathology; D002114:Calcinosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome