Autopsy case of a patient with 13q⁻ syndrome

Abstract 

Partial deletion of the long arm of chromosome 13 results in 13q⁻ syndrome, and phenotypes of affected patients vary widely. We describe an autopsy case of the sudden, unexpected death of a 17-year-old boy with 13q⁻ syndrome. He had severe psychomotor retardation and had been receiving follow-up care. One day he was found dead in his house and autopsy was performed to elucidate the cause of death. Autopsy findings revealed lobulation anomalies of the lungs, hypoplasia of the adrenal and thyroid glands, and apituitarism due to hyperplasia of bone in the hypophyseal fossa. No other pathological lesions were observed. Chromosomal analysis confirmed interstitial deletion from the long arm of chromosome 13. Karyotype was 46,XY, del(13)(q14.3q32). We concluded that the patient died of multi-organ dysfunction due to apituitarism. Autopsy cases of 13q⁻ syndrome are rare. Furthermore, lobulation anomalies and apituitarism associated with 13q⁻ syndrome have not previously been described. This case report offers novel clues to elucidating critical regions of chromosome 13 associated with malformations of the lungs and pituitary gland.

Keywords: 13q⁻ syndrome, Sudden unexpected death, Apituitarism, Lobulation anomaly