| Severe Hunter Syndrome (Mucopolysaccharidosis II) Phenotype Secondary to Large Deletion in the X Chromosome Encompassing IDS, FMR1, and AFF2 (FMR2). | |
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MedLine Citation:
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PMID: 22190500 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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A 2-year-old boy with an initial diagnosis of Hunter syndrome (mucopolysaccharidosis II) had a more severe phenotype than expected, which warranted further evaluation. The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly, an inguinal hernia repaired, early clawhand deformities, and severe generalized hypotonia. X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. This case is also a reminder to clinicians that for optimum patient care, further diagnostic testing is warranted if there is concern that a patient's phenotype is more severe or complex than would be expected for the initial neurogenetic diagnosis. |
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Authors:
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Day M Burruss; Tim C Wood; Lesby Espinoza; Alka Dwivedi; Kenton R Holden |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-21 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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College of Medicine, Medical University of South Carolina, Charleston, SC. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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