title: First reported case of alpha-mannosidosis in the RSA.
abstract: The first known case of alpha-mannosidosis in the RSA is reported. Presentation was classic, viz. delayed speech, kyphoscoliosis and hearing loss at the age of 4 years. Among the generally rare inherited lysosomal storage diseases, alpha-mannosidosis is regarded in Europe and the USA as one of the more common disorders. It is suggested that the apparent underdiagnosis in South Africa may stem from lack of clinical recognition of a condition, which is relatively simple to diagnose biochemically. The clinical and radiological features of the child are described in the hope that clinicians will develop an awareness of the disorder, and include it in the differential diagnosis of deaf children who may also have mild skeletal abnormalities. Antenatal diagnosis of this untreatable condition is possible, so the birth of further affected children in a family could be prevented.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Stellenbosch, Parowvallei, CP.
authors.forename: G
authors.initials: G
authors.lastname: de Jong
authors.forename: E M
authors.initials: EM
authors.lastname: Petersen
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008297:Male; D013019:South Africa; D008363:alpha-Mannosidosis / Q000175:diagnosis*