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A 7 year old girl presented with growth failure. She was born of a consanguineous marriage, and mental as well as motor milestones had been delayed. On examination her height was 93 cm (<3rd centile). Nervous system evaluation revealed moderate mental retardation and a left lateral rectus palsy. The rest of the systemic examination was normal.
Investigations revealed a normal complete blood count. Serum biochemical reports were as follows: sodium 138 mmol/l, potassium 3.0 mmol/l, bicarbonate 15.3 mmol/l, chloride 138 mmol/l, total calcium 2.20 mmol/l (estimated value), phosphorous 1.1 mmol/l, albumin 40 g/l, urea 5.1 mmol/l, and creatinine 63 μmol/l. Arterial blood pH was 7.22 and a corresponding urinary pH was 6.50; she did not have glycosuria. Computed tomography of the brain was done (fig 1). Serum acid phosphatase level was 10 U/l (normal range for age 0.11–0.6 U/l). The alkaline phosphatase level was 228 IU/l (normal <450 IU/l). Skeletal radiography including the skull, hand, spine and long bones was carried out, and the characteristic features are shown in fig 2.
What are the radiological and biochemical features, and the diagnosis of this case?
What are the radiological features of this disorder?
What are the treatment options and prognosis of this disorder?
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