| Kocher-Debre-Semelaigne syndrome: a case report. | |
| | |
MedLine Citation:
|
PMID: 17402524 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: Kocher-Debre-Semelaigne (KDS) syndrome is a myopathy of hypothyroidism associated with pseudohypertrophy in infancy or childhood. There are few reported cases of KDS syndrome in the literature. STUDY DESIGN: We present a 5-year-old boy with poor growth and delayed dental and motor development. There was no family history. On examination he had coarse facies, large protruding tongue, athletic build, short stature and mental retardation. The diagnosis of KDS syndrome was based on laboratory and radiologic evidence of congenital hypothyroidism and muscle enlargement. He was started on L-thyroxine at the dose of 4ug/kg/day, and he has shown marked increase in alertness with regressing muscle bulk after 4 weeks of treatment. A short review of the literature is also presented. |
| | |
Authors:
|
Ifeoma C Anochie; Barbara E Otaigbe |
Related Documents
:
|
9637424 - Interstitial dup(1p) with findings of kabuki make-up syndrome. 8305964 - Agenesis of the corpus callosum associated with masa syndrome. 20503314 - Array cgh in molecular diagnosis of mental retardation - a study of 150 finnish patients. 17715284 - Craniodigital syndrome of scott: clinical and neuroradiological features of a new case. 19614644 - Epsilon-like electrocardiographic pattern in a patient with brugada syndrome. 22017694 - Teduglutide for the treatment of short bowel syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: West African journal of medicine Volume: 25 ISSN: 0189-160X ISO Abbreviation: West Afr J Med Publication Date: 2006 Oct-Dec |
Date Detail:
|
Created Date: 2007-04-03 Completed Date: 2007-05-03 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8301891 Medline TA: West Afr J Med Country: Nigeria |
Other Details:
|
Languages: eng Pagination: 309-11 Citation Subset: IM |
Affiliation:
|
Department of Pediatrics, University of Port Harcourt, Rivers State, Nigeria. anochieify@hotmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple* Child, Preschool Constipation / etiology Femur / abnormalities* Humans Hypertrophy Hypothyroidism* / complications, drug therapy Male Muscular Diseases* / drug therapy Syndrome Thyroxine / therapeutic use* |
| Chemical | |
Reg. No./Substance:
|
7488-70-2/Thyroxine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Surgical management of advanced hypopharyngeal carcinoma: a case report and literature review.
Next Document: Myelomatosis: a case report of an unusual presentation.