Document Detail


Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.
MedLine Citation:
PMID:  22570975     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mucolipidosis type II (ML II) is a rare disease. Its diagnosis is often missed, as it may present with rickets-like picture. ML II and rickets both may have physical findings including fractures, kyphoscoliosis, as well as similar biochemical and radiographic studies. Their similarities often lead to delayed diagnosis and treatment for ML II patients. We describe two cases of ML II, both confirmed by DNA sequencing of the GNPTAB gene and by plasma enzymes assays. The second patient had a much better outcome because of prompt diagnosis and was able to undergo bone marrow transplant as a result. We also review all literature in the English language for cases of ML II presenting with rickets-like pictures.
Authors:
Maria Huei-Chun Lin; Pisit Pitukcheewanont
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  25     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2012  
Date Detail:
Created Date:  2012-05-10     Completed Date:  2012-05-31     Revised Date:  2014-01-08    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  191-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Female
Humans
Infant
Infant, Newborn
Mucolipidoses / diagnosis*,  genetics,  therapy
Rickets / diagnosis*
Transferases (Other Substituted Phosphate Groups) / genetics
Chemical
Reg. No./Substance:
EC 2.7.8.-/Transferases (Other Substituted Phosphate Groups); EC 2.7.8.15/GNPTAB protein, human
Comments/Corrections
Comment In:
J Pediatr Endocrinol Metab. 2013;26(9-10):1011-3   [PMID:  23729602 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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