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[A special form of pancytopenia]
Hafsa Chahdi1, Mohamed Oukabli1
1Service d'Anatomie Pathologique, Hôpital Militaire, d'Instruction Mohamed V, Rabat, Maroc.
The Pan African Medical Journal
|August 14, 2018
Summary
Primary hyperoxaluria, a rare metabolic disorder, can lead to oxalate crystal deposition in the spine. This case highlights spinal oxalosis as a cause of aplastic anemia and end-stage renal disease in adults.
Area of Science:
- Nephrology
- Hematology
- Metabolic Disorders
Background:
- Primary hyperoxaluria is a rare genetic disorder of hepatic metabolism causing excessive oxalate production and urinary excretion.
- It often leads to kidney stones, nephrocalcinosis, and end-stage renal disease (ESRD).
Observation:
- A 43-year-old patient with ESRD on hemodialysis presented with anemia and mucocutaneous pallor.
- Initial investigations revealed pancytopenia and aplastic anemia.
- Bone marrow biopsy was challenging, showing hyperdiluted blood.
Findings:
- Radiographs indicated splenomegaly.
- A subsequent kidney and bone marrow biopsy revealed myelofibrosis.
- Birefringent crystals were identified under polarized light, confirming spinal oxalosis.
Implications:
- This case underscores that spinal oxalosis, a rare manifestation of primary hyperoxaluria, can present with hematological abnormalities like aplastic anemia.
- Early recognition and diagnosis of oxalosis are crucial for managing patients with primary hyperoxaluria and associated complications.
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