| Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening. | |
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MedLine Citation:
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PMID: 18194900 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history, and because of prior poor school performance, amino acid analysis and mutational analysis of the cystathionine beta-synthase gene were performed, which revealed the presence of homocystinuria. Low methionine diet with vitamin B6, folic acid, betaine, dipyridamole and aspirin was prescribed for emergency ophthalmologic surgery to prevent thromboembolic events. Fortunately, the operation was completed uneventfully. The patient has been followed-up for 4 years without any significant complaints under diet and medical control. Since homocystinuria is easily missed in neonatal screening programs, it should be suspected in patients who present with lenticular subluxation, even after a negative neonatal screen. |
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Authors:
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Kang-Hsiang Cheng; Miao-Chiu Hung; Shih-Jen Chen; Chuan-Hong Kao; Dau-Ming Niu |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the Chinese Medical Association : JCMA Volume: 70 ISSN: 1726-4901 ISO Abbreviation: J Chin Med Assoc Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2008-01-15 Completed Date: 2008-02-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101174817 Medline TA: J Chin Med Assoc Country: China (Republic : 1949- ) |
Other Details:
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Languages: eng Pagination: 562-4 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan, R O C. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Homocystinuria / complications*, diagnosis Humans Infant, Newborn Lens Subluxation / etiology* Male Neonatal Screening* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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