Document Detail

Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases.
MedLine Citation:
PMID:  17228159     Owner:  NLM     Status:  MEDLINE    
Leroy I-cell disease is a rare autosomal recessive lysosomal storage disorder characterized by marked psychomotor and growth retardation, skeletal anomalies, and typical facial features. There is a biochemical defect in uridine diphospho-N-acetylglucosamine-1-phosphotransferase, which is the enzyme responsible for addition of a mannose phosphate residue for lysosomal trafficking. Prenatal diagnosis is possible by analysis of enzyme activity in chorionic villi or cultured amniocytes, but this is offered to families only known to be at increased risk. We describe two cases that had bilateral shortness of the femurs at 25 and 31 weeks of gestation in the ultrasound scan and were diagnosed as Leroy I-cell disease by plasma enzyme analysis in the postnatal period. There was also bowing of the femurs in one case. None of the two families had a history of Leroy I-cell disease. The parents of one case were second-degree cousins. In view of these two cases that are presented, we propose that Leroy I-cell disease should be included in the differential diagnosis of short femurs even when there is no evident family history.
A Yuksel; H Kayserili; F Gungor
Related Documents :
20469469 - The ivory tower: rest home or rat race?
3366039 - Colonic malacoplakia--occurrence in a family. report of cases.
18297329 - Spinocerebellar ataxia type 2 (sca2) in an egyptian family presenting with polyphagia a...
24938859 - Retrograde jejunogastric intussusception: a case report and review of the literature.
7926319 - Developmental prosopagnosia in asperger syndrome: presentation and discussion of an ind...
11790389 - Familial hemifacial spasm: report of cases and review of literature.
16041539 - Reimplantation of oesophageal bronchus following a type iii oesophageal atresia repair.
21818519 - A biopsy diagnosis? clinical clues and patterns to help distinguish cutaneous metastase...
9170369 - Massive osteolysis after ceramic on ceramic total hip arthroplasty. a case report.
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-01-17
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  22     ISSN:  1015-3837     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2007  
Date Detail:
Created Date:  2007-04-13     Completed Date:  2007-05-31     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  198-202     Citation Subset:  IM    
Copyright Information:
(c) 2007 S. Karger AG, Basel.
Department of Obstetrics and Gynecology, Istanbul University, Capa Istanbul, Turkey.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Diagnosis, Differential
Femur / abnormalities*,  ultrasonography
Genes, Recessive
Gestational Age
Hexosaminidases / blood
Infant, Newborn
Mucolipidoses / diagnosis*,  enzymology,  genetics,  ultrasonography
Ultrasonography, Prenatal
alpha-Mannosidase / blood
beta-N-Acetylhexosaminidases / blood
Reg. No./Substance:
EC 3.2.1.-/Hexosaminidases; EC; EC

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

Previous Document:  Fetus-in-fetu: a rare entity.
Next Document:  Alcohol injection for the intrauterine treatment of chorioangioma in a pregnancy with transfusion re...