Dysostosis craniofacialis (Crouton): A case report

Abstract

Dysostosis craniofacialis is a rare and peculiar disease which was first reported by Crouzon in 1912. The condition is characterized by acrocephaly, exophthalmus, dysplasia of maxillar bone, etc.
A case of Crouzon's disease was reported. The case was 13 year-old boy and his mother noted already deformity of his head 6 months after birth. At the age of one exophthalmus and visual disturbance appeared. Since 2 or 3 years of age he has had occasional headache and vomiting.
According to Crouzon the disease is hereditary but present case had no heredity.
The clinical symptoms was tower shaped head, exophthalmus, maxillar hypoplasia which resulted in malocclusion of the jaw, depression of the nasal base, and protrusion of lower lip, and marked disturbance of sight that aggravated mental retardation. In roentogenography of the skull pronounced digital impressions and deformity of the pituitary fossa were observed. Visual disturbance was due to the atrophy of the optic nerve. Pressure of the cerebrospinal fluid was higher than normal. Except elevation of activity of serum alkaline-phosphatase we found no abnormality in blood and urine.
The disease is said to be caused by premature closure of cranial sutures, especially coronary and lambda sutures, though the cause of the closure in early stage is not yet cleared.
As to the treatment the operative procedure should be carried out as early as possible, which is partial resection of the skull for decompression of the brain. Our case seemed to be too late for the surgical treatment.