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Year : 1999  |  Volume : 9  |  Issue : 3  |  Page : 141-143
Images : Progressive paraparesis with cleidocranial dysostosis


Department of Radiology and Imaging, Institute of Neurological Sciences, Dispur, Guwahati-781006, Assam, India

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Keywords: Cleidocranial dysostosis, Musculoskeletal, Dysplasia

How to cite this article:
Medhi N, Saharia B, Handique SK. Images : Progressive paraparesis with cleidocranial dysostosis. Indian J Radiol Imaging 1999;9:141-3

How to cite this URL:
Medhi N, Saharia B, Handique SK. Images : Progressive paraparesis with cleidocranial dysostosis. Indian J Radiol Imaging [serial online] 1999 [cited 2019 Jul 19];9:141-3. Available from: http://www.ijri.org/text.asp?1999/9/3/141/28321
Cleidocranial dysostosis (CCD) presents with classic appearances in the clavicles, chest, skull, mandible, pelvis, vertebrae and hands. Though there is predominant involvement of the skeletal system there have been reports of syringomyelia (with or without the  Chiari malformation More Details) and vascular abnormalities. Typical findings of cleidocranial dysostosis in a patient with atypical clinical features and abnormal cerebral lesions will be discussed.


   Case report Top


A 50-years old cultivator was admitted in our institute with a seven-years history of progressive difficulty in walking, heaviness of legs and hesitancy during micturition. Local examination of the head revealed a defect in the skull. Neurological examination revealed spasticity of all four limbs. The reflexes were brisk. The plantar reflex was indeterminate on the left side. He had a sensory level at T10. A clinical diagnosis of myeloradiculopathy was considered. In view of the skull defect, a skeletal survey was performed which yielded the diagnosis of cleidocranial dysostosis. The following findings were observed on the radiographs.

Skull [Figure - 1]: Small facial bones were seen with impacted permanent teeth. Wide anterior and posterior fontanelles were seen with a large gap and widened sutures. Frontal bossing and Wormian bones were noted.

Thorax [Figure - 2]: The thorax was narrow. The ribs were short and directed obliquely ownwards. Clavicles [Figure - 2]: The outer ends of both clavicles were absent. The scapulae were small. Vertebrae: The vertebrae were flat and wedged posteriorly with an unfused posterior arch. Pelvis [Figure - 3]: The femoral necks were short and flat with a wide symphysis pubis. The iliac wings were narrow. Knee joints: They showed genu valgum with osteoporosis. Hands: The bones were osteoporotic with thin cortices with broad phalanges. The middle phalanges of the 2nd and 5th fingers were short.

An MR of the brain was performed which showed hyperintense lesions on T2-weighted images in the occipital and posterior parietal white matter, bilaterally. Evidence of loss of volume was seen with enlargement of the occipital horns [Figure - 4]. The MR of the spine showed a wide subarachnoid space with normal cord intensity.


   Discussion Top


Cleidocranial dysostosis (CCD) is a condition with autosomal dominant inheritence which is characterised by delayed or incomplete calvarial ossification and hypoplasia or aplasia of the clavicles [1]. There may be associated abnormalities of the other bones of the axial and appendicular skeleton.

Skeletal abnormalities include complete or partial absence of clavicles, small scapulae, narrow thorax and short ribs and incomplete fusion of the neural arches. There is delayed closure of the fontanelles and presence of Wormian bones in skull. The pelvis shows short and flat femoral necks and a wide symphysis pubis. There is delayed dentition with small maxillae. There may be abnormalities in hands and feet.

All the skeletal abnormalities have been described in the literature. However, this patient had a rare association of this spectrum of dysostosis with a progressive neurological disorder. In this case the MR of the brain revealed bilateral parieto-occipital white matter lesions with atrophy. MR of the spine showed a large subarachnoid space with a small cord suggesting cord atrophy.

Associated syringomyelia and Chiari I malformations have been described in association with cleidocranial dysostosis [2]. Neurological deficit without syringomyelia in cleidocranial dysostosis has not been described in literature.

 
   References Top

1.Edeiken J, Dalinka M, Karasick D. Edeiken's Roentgen diagnosis of diseases of bone. 4th ed. Vol. 2. Baltimore: Williams and Wilkins, 1990; 1697-1700.   Back to cited text no. 1    
2.Vari R, Puca A, Meglio M. Cleido cranial dysplasia and syringomyelia - case report. J Neuro Surg Sci 1996; 40: 125-128.   Back to cited text no. 2  [PUBMED]  

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Correspondence Address:
Nirod Medhi
Department of Radiology and Imaging, Institute of Neurological Sciences, Dispur, Guwahati-781006, Assam
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]

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