A six year old boy was found to have mild coarse facial features, kyphosis, scoliosis, hip luxation and short stature (−2.6 SDS). So far no cloudy cornea was present. Mental development was normal. No hepatomegaly was observed. Dental enamel did not present any anomalies. History revealed several upper respiratory infections.
X-rays of the vertebral column showed platyspondily, flaring of the rib cage. MRI of the brain and cervical spine were uneventful. Bone densitomethry showed osteporosis. Long bones were shortened and curved, metaphyses widened, femoral neck was abnormal and femoral head flattened. Hands were short and stubby. Elevated urinary GAG (glycosaminigycans) excretion was demonstrated (16.2 mg/mmol Cr; normal range 7.6–9.2 age adjusted). The laboratory differentiation of the specific enzymatic defect showed N-acetile-galaktozamin-6-sulfatase deficiency (0.7 nmol/mU/17 h/mg protein blood leucocytes; normal values 20–70 nmol/mU/17 h/mg). Gene determination is pending.
Orthopedic treatment for the kyphosis and scoliosis, hip luxation is also being carried out.