先天性角膜混濁および重度の上気道狭窄を合併した重症Crouzon病の1例

Abstract

A case of Crouzon disease complicated with congenital corneal opacity and severe dyspnea due to upper airway stenosis is reported. A male infant with a birth weight of 2.960 g and a gestational age of 38 weeks and 6 days, was admitted to the neonatal intensive care unit (NICU) due to odd facial features and recurrent severe cyanosis. He exhibited a bulging forehead, exophthalmos and corneal opacity, however, there was no syndactyly. X-ray films of the skull demonstrated early synostosis in all sutures and digital impressions, and he was diagnosed with Crouzon disease. The case was complicated by incomplete dislocations of both elbow joints, synostosis between the third and forth cervical vertebrae and atrial septal defect. We began intermittent mandatory ventilation soon after admission because severe cyanosis with bradycardia recurred. Computed tomography and X-ray films revealed severe stenosis in the oropharyngolaryngeal cavity, and tracheotomy was performed at 44 days old. Craniectomy, keratoplasty and ventriculo-peritoneal shunt surgery were performed at 64 days, 136 days. and 318 days, respectively. He left NICU at 318 days. However, respitatory infection reccurred frequently and he died due to bronchopneumonia at 387 days. Our case seems to be a very rare and severe case of Crouzon disease.