Primary hyperoxaluria type 1 with systemic calcium oxalate deposition: case report and literature review.

نویسندگان

Nadja Falk

Brian Castillo

Aditya Gupta

Brandy McKelvy

Meenakshi Bhattacharjee

Sozos Papasozomenos

چکیده

We present an adult autopsy case of primary hyperoxaluria type 1. Diagnosis was established with skin biopsy and subsequent genetic analysis one month prior to death. At autopsy, calcium oxalate crystals refringent to polarized light were found systemically. Interestingly, however, calcium oxalate crystals were not identified in the bone. Additionally, we have included a review of the literature for previous autopsy cases, presentations, diagnosis, complications, and treatment of this rare genetic systemic process.

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