A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome
Bangladesh Journals Online
View Archive Info| Field | Value | |
| Title |
A Case of 25 Year Old Dwarf with Classic Cockayne Syndrome
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| Creator |
Mohammed, Fazle Rabbi; Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka
Chowdhury, FR; Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka Nur, Zannatun; Post Graduate Trainee, Department of Medicine, Dhaka Medical College Hospital, Dhaka Shams, MZ; Assistant Registrar, Department of Medicine, Dhaka Medical College Hospital, Dhaka Alam, MB; Associate Professor, Department of Medicine, Dhaka Medical College, Dhaka Ahasan, HAMN; Professor, Department of Medicine, Dhaka Medical College, Dhaka. |
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| Subject |
Medicine
Classic Cockayne syndrome; Dwarfism; Basal ganglia calcification; Cerebral atrophy |
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| Description |
A 25 year old, short stature man of non-consanguineous parents, attended with acute respiratory tract infectionalong with progressive difficulties in walking, hearing and vision. He had the complaints of growth retardation, poorfeeding, listless attitude and delayed milestones of development since one year of age. At presentation, he was noncooperative, IQ below 50; height and weight were below 5th percentile. He had progeria with enophthalmos, cataract,corneal opacity, miotic pupils, tremor, ataxia, in-coordination of movement, diminished tendon reflexes, unsteadygait, bilateral sensory neural deafness and hepatomegaly. Lateral skull X-ray showed cortical calcification. MRI ofbrain revealed bilateral dentate nucleus and basal ganglia calcification, generalized cerebral and cerebellaratrophy and ventricular dilatation. Typical clinical and imaging findings clinched the diagnosis of classic CockayneSyndrome; which is a rare, autosomal recessive, DNA repair deficient, multisystem disorder. It has no cure and theprognosis is poor.Keywords: Classic Cockayne syndrome; Dwarfism; Basal ganglia calcification; Cerebral atrophyDOI: 10.3329/jom.v11i2.5470J MEDICINE 2010; 11 : 186-188
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| Publisher |
Bangladesh Society of Medicine
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| Date |
2010-07-12
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| Type |
Peer-Reviewed Article
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| Format |
application/pdf
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| Identifier |
http://www.banglajol.info/index.php/JOM/article/view/5470
10.3329/jom.v11i2.5470 |
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| Source |
Journal of Medicine; Vol 11, No 2 (2010); 186-188
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| Language |
en
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| Coverage |
Bangladesh
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| Rights |
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