咬合不全および末端肥大症様顔貌を呈したFabry病—臨床および腓腹神経の電顕的研究

FABRY'S DISEASE WITH MALOCCLUSION AND ACROMEGALIC-APPEARANCE : CLINICAL AND ELECTROMICROSCOPIC STUDIES

I．はじめに

　Fabry病はα—galactosidase欠損により，glycolipid，特にceramide trihexoside （CTH）が諸臓器に沈着して起こる先天性代謝疾患で，伴性劣性遺伝をするといわれている。本症は欧米では270例の報告があるが^11），木邦ではまだ20家系に満たない。今回著者らが経験した症例はangiokeratomaはなく，歯の咬合不全を呈し，末端肥大症様顔貌で，胸部に漏斗胸様変形があつた。本例のごとく，骨歯に特徴ある症例は文献的にほとんどなく，また患者の腓腹神経生検の電顕所見より，"Zebrabody"の生成に関して若干の知見を得たので報告する。

The present case is a 24-years-old man who complained painful attack with numbness in both bilateral shoulder regions and distal extremities. This pain was increased by the stimulations of sun light and heat. On physical examinations, he had an acromegalic-like-appearance, thick mustache and beard. Malocclusion of the teeth which showed the broad space was found. And skin lesion was not found out. Hypesthesia in bilateral distal ex-tremities was revealed and no other abnormal neurological findings were observed. He was made diagnosis of Fabry's disease by laboratory exami-nations which were α-galactosidase deficiencyanalysed in leukocytes, increased ceramide tri-hexosides demonstrated in urinary sedment and electron microscopic findings in the biopsy of the skin and sural nerve. His mother had and decreased α-galactosidase activity which levels showed be-tween normal and patient and was speculated to be a carrier. On an electron microscopy, "Zebra body"was observed in fibroblasts, capillary endo-thelial cells, their pericytes, prineural and Schwann cells. Many of them had a distinct limiting membrane and laminal structure with irregular alterations of light and dark zone. In the cyto-plasma of Schwann cells, there were many rough endplasmic reticulums which were located parallel with alignment and seemed to show the loosed laminal structure with the unclear limited membrane. Occationally, fusions between irregular laminal structure and rough endoplasmic reticulum were also observed. These findings could be indicated that the formation of Zebra body is related to rough endoplasmic reticulum, because laminal structure which discribed above is corresponded to pre-Zebra body. In the cytoplasma of the prineural cells, recket-like structure which was seen in histiocytosis X were occasionally observed.