Craniometaphyseal dysplasia unnoticed until 19 years of age: First diagnosed from facial nerve paralysis.

Abstract

Craniometaphyseal dysplasia (CMD) is a rare congenital bone disorder with facial dysmorphism developing from early childhood. We describe an unusual case of CMD unnoticed until the patient was 19 years old. Her disorder was diagnosed for the first time from her facial nerve paralysis, and was treated with high-dose corticosteroids. This report indicates the need for extreme caution in dealing with facial nerve paralysis since early detection and accurate diagnosis is important in the treatment of bone diseases. High-dose corticosteroid could be effective in treating facial nerve paralysis, even when nerves have been directly constricted by a bony overgrowth.

• Authors: Tohru Tanigawa, Hirokazu Tanaka, Takashi Sato, Shinya Banno, Mayuko Kishimoto, Hilary Brodie, Hiromi Ueda
• Journal: Auris, nasus, larynx (Auris Nasus Larynx) Vol. 38 Issue 3 Pg. 406-10 (Jun 2011) ISSN: 1879-1476 [Electronic] Netherlands
• PMID: 21227606 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Chemical References

• Anti-Inflammatory Agents
• Prednisolone

Topics

• Anti-Inflammatory Agents (administration & dosage)
• Bone Diseases, Developmental (diagnosis, drug therapy)
• Craniofacial Abnormalities (diagnosis, drug therapy)
• Delayed Diagnosis
• Diagnosis, Differential
• Dose-Response Relationship, Drug
• Drug Administration Schedule
• Facial Paralysis (diagnosis, drug therapy, etiology)
• Female
• Hearing Loss, Sensorineural (diagnosis, drug therapy, etiology)
• Humans
• Hyperostosis (diagnosis, drug therapy)
• Hypertelorism (diagnosis, drug therapy)
• Prednisolone (administration & dosage)
• Tomography, X-Ray Computed
• Young Adult