Examination and investigations

When we first saw him in February 1998 the patient had a waddling gait. On admission in March 1998, both hips showed signs of the surgical procedures but muscle atrophy was absent. There was no apparent muscular dysfunction, and neurological testing was normal.

Laboratory testing revealed reduced serum calcium (1.86mmol/1) and phosphate (0.77mmol/l), high alkaline phosphatase (378 U/l), high parathyroid hormone (45 pmol/l, normal below 6.5 pmol/l), and low levels of 25-hydroxy vitamin D3 (5 nmol/l, normal 25-72.5 nmol/l) and 1,25-dihydroxy vitamin D3 (37pmol/l, normal 80-200pmol/l).

Lumbar bone mineral density was 3.2 standard deviations below the mean value of a reference group of 30-year old males (T-score). A bone biopsy specimen demonstrated osteomalacia and signs of secondary hyperparathyroidism. These findings led to a presumptive diagnosis of osteomalacia and secondary hyperparathyroidism due to hypovitaminosis D.

Because dietary intake of vitamin D and calcium in our patient was normal, malabsorption of vitamin D remained as a possibility. We therefore embarked on a search for a cause of malabsorption of vitamin D. Liver disease was absent and a small bowel enema yielded normal results. A biopsy specimen of the proximal jejunum showed only minor atrophy of villi. Anti-endomysium and anti-gliadin antibodies were absent, ruling out a gluten-sensitive enteropathy. A 24-hour stool specimen contained 34 g fat (normal below 7.2 g). Skeletal X-rays showed chalky depositions in the pancreas, suggesting that the steatorrhoea could be caused by chronic pancreatitis. This was surprising because our patient had never had significant abdominal symptoms. A specific cause for the chronic pancreatitis was not found.

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