Primary hyperoxaluria

Case contributed by Dr Hala Maher

Presentation

End-stage renal disease associated with ascites and respiratory and liver failure.

Patient Data

Age: 4 years
Gender: Female

Chest and abdomen

X-ray

Bilateral increased renal density associated with central displacement of the bowel due to ascites.

Also diffuse sclerosis of the ribs and upper limbs bones along with rugger jersey spine are noted. 

Both hands

X-ray

Bilaterally increased bone density showing heterogenous osteosclerosis along with extraosseous calcifications that extend at the medial aspect of the left carpometacarpal regions.

Abdomen

Ultrasound

Both kidneys showing a marked echogenic cortex with strong posterior shadowing denoting diffuse calcifications that suggest bilateral nephrocalcinosis.

Case Discussion

This chronic complicated case was initially misdiagnosed as a congenital nephrocalcinosis with renal osteodystrophy due to end-stage renal disease. This results in a secondary (and potentially eventually a tertiary) hyperparathyroidism causing a generalized bony abnormality accompanied by extraosseous calcifications. Ascites was iatrogenic and due to peritoneal dialysis.

Yet, after reviewing the laboratory history of this child we found that there is a congenital disorder of oxalate metabolism. It is a rare condition and following chronic dialysis, the bone oxalosis mimics secondary hyperparathyroidism radiologically. However; the lab results of this child show a markedly elevated PTH 146 pg/mL (normal 15-65 pg/mL) denoting secondary hyperparathyroidism.

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