Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis

• Main Authors: Sumit Singh, MD, Curtis Qin, MD, Srikanth Medarametla, MD, Shilpa V. Hegde, MBBS
• Format: Article
• Language: English
• Published: Elsevier 2016-09-01
• Series: Radiology Case Reports
• Subjects: craniotubular dysplasia; craniometaphyseal dysplasia; ANKH gene mutation; Erlenmeyer flask deformity
• Online Access: http://www.sciencedirect.com/science/article/pii/S1930043316300553
• ISSN: 1930-0433

We report a 14-month-old male with craniometaphyseal dysplasia (CMD). The patient presented with a history of diminishing vision and hearing loss. Cranial computed tomography scan showed diffuse calvarial and skull base hyperostosis with excessive bone narrowing the internal auditory canals and skull base foramina. A subsequent skeletal survey revealed other skeletal abnormalities, which led to the diagnosis of CMD. This was later confirmed by ANKH mutation. CMD is a rare genetic disorder that belongs to the group of craniotubular bone dysplasias. It is important to recognize this condition from other causes of craniotubular bone dysplasias to institute early treatment and explain prognosis.