Hyperostosis Cranialis Interna A New Hereditary Syndrome with Cranial-Nerve Entrapment

• Published in: The New England journal of medicine Vol. 322; no. 7; pp. 450 - 454
• Main Authors: Manni, Johannes J, Scaf, Jan J, Huygen, Patrick L.M, Cruysberg, Johan R.M, Verhagen, Wim I.M
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 15-02-1990
• Subjects: Adult; Age; Biological and medical sciences; Bone diseases; Case reports; Cranial Nerve Diseases - etiology; Diseases of the osteoarticular system; Ears & hearing; Family medical history; Female; Humans; Hyperostosis - diagnostic imaging; Hyperostosis - genetics; Medical imaging; Medical sciences; Nerve Compression Syndromes - etiology; Neurological disorders; Otolaryngology; Skull - abnormalities; Skull - diagnostic imaging; Tomography, X-Ray Computed; Human; Skull; Diagnosis; Hyperostosis; Diseases of the osteoarticular system; Genetic disease
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199002153220707

IN this report, we describe a curious and apparently unique genetic bone disorder in a white family. The main radiologic features are intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull; the mandible and skeleton are normal. Recurrent facial palsy is the primary clinical sign, and there is variable simultaneous impairment of the senses of smell, taste, and vision and of cochleovestibular function. This disorder can be classified among the craniotubular hyperostoses.
Case Report
The proband (III–7 in Fig. 1) was seen at 20 years of age because she had recurrent left facial-nerve palsy of three weeks' . . .