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

[primary hyperoxaluria type 1]

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 .