Prader-Labhart-Willi症候群の1剖検例

AN AUTOPSY CASE OF PRADER-LABHART-WILLI SYNDROME

　抄録　火傷後の急性腎不全で死亡した23歳男性で，脳に異常を認めたPrader-Labhart-Willi （P-L—W）症候群の1剖検例を報告したが，本症候群では現在まで，脳奇形の報告はない。本例はP-L—W症候群の特徴とされる主症状を全て有し，検査所見では著明な糖尿病，知能低下（IQ28）を認めた。剖検所見では内分泌系に異常を認めず中枢神経系では奇形性変化として，大脳半球前後径短縮などの肉眼的形態異常，歯状核の部分的micropolygylia，下オリーブ核のヘテロトピー，プルキンエ細胞の分子層内への転位，小脳髄質内の神経細胞のヘテロトピー，大脳皮質下白質内の双極神経細胞残存が認められたが，間脳—下垂体系には特に異常を認めなかった。加齢性変化として，延髄後索核を中心とする部位にspheroid，黒質神経細胞内のMarinesco小体，歯状核および下オリーブ核の線維性グリオーシスを認め，Prader-Labhart-Willi症候群は早期に老化現象を呈する疾患の可能性があるものと思われた。延髄錐体路を中心とする脱髄性病変は，脳浮腫の存在より火傷脳症によるものと考えられた。

An autopsy case of 23-years-old man with Pra-der-Labhart-Willi syndrome (P-L-W syndrome), who had died by acute renal failure due to burn injury, was reported. P-L-W syndrome was con-stituted by hypotonia, hypogonadism, hypomentia, obesity and other minor anomalies, however, CNS anomaly had not been reported. The patient sat at 3 years of age, walked at 4 years old, began to utter single words at 3-4 years, and he began to obese at 4 years of age. He fulfilled the condi-tion of P-L-W syndrome mentioned above. On his age 15, laboratory findings on admission revealed remarkable diabetic pattern by oral glucose tole-rance test and intelligence quotient was 28, and the other laboratory findings were within normal limit. During his clinical history, complications of diabetes mellitus, such as diabetic retinopathy and neuropathy, were aggrevated, and upstanding and gait were impossible at 20 years of age. On his age 23, he suffered from burn injury at left lower extremity and he fell in acute renal insufficiency.

Five autopsy cases of P-L-W syndrome have been reported so far, however, CNS anomaly has not been observed. Following anomalies in our case was recognized, such as shortness of the frontal lobe, partial micropolygyria of the dentate nucleus, heterotopia of the inferior olivary nucleus, ectopia of Purkinje cell in the molecular layer, heterotopia of middle sized neuron in the deep white matter of the cerebellum and large number of residual nerve cells in the cerebral subcorticalwhite matter. No abnormality was observed in the hypothalamus-pituitary system. As for the ageing changes, spheroid and fibrillary gliosis were ob-served at the medullary posterior column nuclei and at the dentate nucleus and the inferior olivary nucleus, respectively. Marinesco body was also recognized in the neuron of the substantia nigra. From these observations, it was suggested that P-L-W syndrome was related to CNS anomalies and early ageing phenomenon. The demyelinative lesion mainly in the medullary pyramidal tract and brain edema which were observed in this case seemed to be resulted from burn encephalopathy following burn injury.