Cerebellomedullary compression in recessive craniometaphyseal dysplasia

Abstract

Craniometaphyseal dysplasia (CMD) is a very rare disorder of bone remodelling characterised by sclerosis of the skull base, vault and facial bones and metaphyseal splaying of tubular bones. The recessive form appears to be more severe than the dominant. Cranial nerve deficits have been reported in infancy and early childhood in a few patients, but the long-term history of recessive CMD is not well documented. We report cerebellomedullary compression in a girl with recessive CMD recognised at 14 years because of progressive truncal ataxia. MRI revealed backward angulation of the thickened clivus, narrowing of the foramen magnum and upward deviation of the cerebellum by a markedly thickened occipital squama, tonsillar herniation and obliteration of the infratentorial cerebrospinal fluid spaces. Posterior cranial fossa decompression resulted in marked improvement of the ataxia. Compression of posterior cranial fossa structures has to be considered in the natural history and management of CMD.

Morphometric evaluation of the foramen magnum in a Sri Lankan population

“…An awareness of the normal dimensions of the FM is clinically important as certain developmental and acquired craniovertebral junction disorders such as achondroplasia [3,4], craniometaphyseal dysplasia [5] assimilation of axis [6], and Jeune's asphyxiating thoracic dystrophy [7,8] associated with the FM resulting in variations in its morphometry. Besides its clinical importance, FM dimensions have also been used as significant criteria in sex determination in forensic investigations [9].…”