Document Detail


A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.
MedLine Citation:
PMID:  9695088     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Retinal dystrophy and ichthyosis occur together in patients with the well-characterized disorders of Refsum disease and Sjögren-Larsson syndrome. Rud syndrome formerly was considered a genetically heterogeneous but distinct clinical entity with the manifestations of icthyosis, hypogonadism, small stature, mental retardation, epilepsy, and, infrequently, retinitis pigmentosa. Although there are at least 55 case reports of Rud syndrome in the medical literature, the existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. METHODS: Two unrelated women with a disorder showing retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalograms underwent a comprehensive workup. The ocular and systemic findings are compared with those previously described for retinal dystrophy and ichthyosis disorders. RESULTS: These cases were found to be clearly distinct from Refsum disease, Sjögren-Larsson syndrome, and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. CONCLUSION: The association of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram may represent a distinct syndrome previously considered a subset of the now defunct Rud syndrome.
Authors:
L M Kaufman
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  19     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  1998 Jun 
Date Detail:
Created Date:  1998-10-01     Completed Date:  1998-10-01     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  69-79     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology and Visual Sciences, UIC Eye Center, University of Illinois at Chicago College of Medicine 60612, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chorionic Gonadotropin, beta Subunit, Human / deficiency
Electroencephalography*
Female
Follicle Stimulating Hormone / blood
Growth Disorders / blood,  complications*,  pathology
Humans
Hypogonadism / blood,  complications*,  pathology
Ichthyosis / blood,  complications*,  pathology
Luteinizing Hormone / blood
Mental Retardation / blood,  complications*,  pathology
Retinitis Pigmentosa / blood,  complications*,  pathology
Skull / abnormalities*
Syndrome
Grant Support
ID/Acronym/Agency:
EY01792-19/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Chorionic Gonadotropin, beta Subunit, Human; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone

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