Smith-Lemli-Opitz Syndrome: Autopsy with New Morphological Findings

摘要

A nine-month-old infant was transported to hospital where he was pronounced dead upon arrival. He was diagnosed with Smith-Lemli-Opitz Syndrome (SLOS) when he was three months old and he had been treated since then. A week ago, he was discharged from hospital after having had treatment for acute renal failure. His parents were relatives (Fig. 1). Chromosomal analysis revealed a normal male karyotype (46, XY). His 7-dehydrocholesterol level was extremely high (848 ng/ml, Ref: <0.1), androstenedione level was high (0.565 ng/ml, Ref: 0.08-0.5) and anti-Mullerian hormone level was low (4.2 ng/ml, Ref: 35.1-91.1). In renal scintigraphy, effective renal plasma flow was measured 80.6 ml/min for right kidney, but 24.1 ml/min for left kidney. He was taking malnutrition therapy. Infantile-type myelination of the brain was determined in cranial magnetic resonance imaging.