Craniometaphyseal Dysplasia: Ophthalmic Features and Management

Chiari Malformation Caused by Craniometaphyseal Dysplasia: Case Report and Review of Literature

“…This malformation not only occurs during fetal development, but can be caused by other lesions, such as osteopetrosis [11], basilar impression [7], craniometaphyseal dysplasia [5] and intracranial space occupied lesion [12], etc. Craniometaphyseal dysplasia (CMD) is a very rare genetic disorder of bone remodeling due largely to a failure of osteoclasis, which is characterized by cranial bone hyperostosis and deformity of the metaphyses of the long bones; it may be sporadic or transmitted by autosomal dominant or recessive modes of inheritance [16]. We describe here a case of progressively symptomatic Chiari I malformation with sporadic CMD.…”

“…It belongs to a group of uncommon genetic disorders named osteopetroses that are characterized by increased skeletal density and abnormalities of bone remodeling. CMD is generally divided into two major types, autosomal dominant and recessive [16]. The dominant form due to one copy of the gene is more common and less severe; the gene in chromosome region 5p15.2-p14.1 is the ankylosis (ANK) gene which encodes a protein involved in the transport of pyrophosphate into the bone matrix [17].…”

“…Intelligence is usually normal. Bony compression can involve various cranial nerves, which can result in blindness, strabismus, facial nerve palsy and deafness [16]. Quadriparesis or death may result from foramen magnum narrowing and compression of the medulla in the severe forms of the disease [5,18].…”

“…Quadriparesis or death may result from foramen magnum narrowing and compression of the medulla in the severe forms of the disease [5,18]. Radiographic examination showed marked sclerosis of the skull base, maxilla, mandible, and shafts of the long bones; the metaphyses of long bones are widened (Erlenmeyer flask-shaped) and exhibit decreased density [5,9,16]. CMD is principally diagnosed from its characteristic clinical manifestations (typical facial appearance) and radiological findings, especially by means of serial skeletal surveys.…”

“…The symptom of nasal obstruction was due to bony narrowing of the nasal vault. Medical management in an attempt to influence the hyperostosis has been attempted with calcitriol, low calcium intake, bisphosphonates and also somatostatin [16,20]. None of these have resulted in convincingly beneficial results.…”