巨大な頭蓋骨欠損と二分脊椎を伴つたvon Recklinghausen病の1症例

A CASE OF VON RECKLINGHAUSEN'S DISEASE WITH A HUGE CALVARIAL BONE DEFECT AND SPINA BIFIDA

I．はじめに

　von Recklinghausen病は臨床上しばしば経験する疾患ではあるが，時に骨に変化をきたすことが古くから知られている。こうした骨変化は頭蓋にもおこつてくるが，これは比較的まれであるとされている。その主なものは蝶形骨の形成不全であり，このため眼窩後壁が欠如し，搏動性の眼球突出をおこしてくる。この他に頭蓋の縫合線にそつて，とくにそれら縫合線の合する泉門部付近に骨の欠損像を呈する場合もあるが，そうした報告はさらに数少ない。我々は典型的なvon Recklinghausen病の症状を呈し，かつ頸椎の二分脊椎を有し，頭蓋では蝶形骨欠損による眼球突出，前及び後側頭泉門部付近の骨欠損，さらに本疾患ではきわめてまれな頭蓋披裂を思わせる頭蓋正中部の巨大な骨欠損像を呈する1症例を経験したのでここに報告する。

This is a report of an unusual manifestation of von Recklinghausen's disease. The patients is a 29-year-old man. Since childhood he noted café au lait spots of different sizes, disseminated over thetrunk and extrimities. Pulsating exophthalmos in the right eye was first noted at the age of about 7. Following a fall from his horseback at the age of 17, he sufferd from left hemiplegia. When 21 years old he noted small cutaneous tumors of differ-ent sizes, disseminated over the trunk. He began to have generalized seizures of grand mal type after the age of 28. On September, 1970, he fell in status epilepticus, and was admitted to Koyogaoka Hospital at Abashiri.

He showed right hemifacial deformity and ipsi-lateral pulsating exophthalmos. Neurological ex-amination showed no abnormal findings except for left spastic hemiplegia. Skull X-ray film showed the bone defect in the right posterior portion of the bony orbit, various types of cranial bone defects and spina bifida of sixth cervical spine. Pneumo-encephalogram showed marked enlargement of the ventricles more notable on the right side.

In von Recklinghausen's disease, changes in the skeletal syndrome are abserved with great frequency. Spina bifida is one of the examples. But defects of the skull are comparatively rare. Aplasia of the sphenoid bone is characteristically found in some cases. Clinical manifestation of such bony aplasia ofen appears as a pulsating exophthalmos because the posterior wall is frequently involved as seen in our case. However the occurence of calvarial bone defects in patients with von Recklinghausen's dis-ease appear to be a relatively uncommon finding. The systemic manifestation and roentgenologic ab-normalities in von Recklinghausen's disease have been reviewed in detail by Hunt and Pugh. In their review of 192 cases of von Recklinghausen's disease, Hunt and Pugh mentioned 3 cases of small defects in the calvalium. In one further case there was evidence of cranium bifidum. In our case, cranial bone defects involve anterior temporal fontanel, posterior temporal and sagittal suture close to its junction with the lambdoid suture. The middale huge one in these bone defects is considered as a cranium bifidum as Hunt and Pugh pointed out. In view of the presence of spina bifida and cranium bifidum, it seems likely that in our case the bone defect represents evidence of mesodermal dysplasia.