Maternal methamphetamine use in pregnancy and long-term neurodevelopmental and behavioral deficits in children.

Aim: To describe neurodevelopmental and/or behavioral findings among a cohort of South African children exposed to maternal methamphetamine (MA) use during pregnancy.

Methods: Developmental assessments with the Griffiths Mental Developmental Scales (GMDS) were completed on a pilot cohort of 15 toddlers aged 2-4 years with a known history of maternal MA use during pregnancy. These were compared to a matched cohort of 21 toddlers without a history of maternal MA use.

The diagnostic difficulties of complex glycerol kinase deficiency.

We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency.

Congenital cervical spinal cord lesions: pathogenesis, management, and outcome.

Three patients (2 boys) presented with nontraumatic congenital lesions of the spinal cord resulting in paralysis and contractures of their upper limbs from birth. Limited improvement occurred in all. Two survived.

Clinical phenotype of South African children with neurofibromatosis 1.

Forty-eight children with neurofibromatosis 1 presenting between 2000 and 2004 were reviewed for their clinical phenotype, and data were compared with published reports. The median age at presentation was 4 years (range 10 days to 12 years). The male to female ratio was similar (22 male:26 female).