ABSTRACT
Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 8/genetics , DNA-Binding Proteins/genetics , Langer-Giedion Syndrome/diagnosis , Langer-Giedion Syndrome/genetics , N-Acetylglucosaminyltransferases/genetics , Transcription Factors/genetics , Adipose Tissue/abnormalities , Child, Preschool , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Langer-Giedion Syndrome/diagnostic imaging , Male , Oligonucleotide Array Sequence Analysis , Phenotype , Radiography , Repressor Proteins , Toes/abnormalitiesABSTRACT
BACKGROUND: An outbreak of measles occurred in Ireland between December 1999 and July 2000. The majority of cases were in north Dublin, the catchment area of The Children's University Hospital (TCUH). METHODS: Details of all of the 111 children attending the hospital with a diagnosis of measles between December 1999 and July 2000 were prospectively entered into a database. Charts were subsequently reviewed to extract epidemiologic and clinical details. National figures were obtained from the National Disease Surveillance Centre. RESULTS: In the study period 355 attended TCUH with a serologic or clinical diagnosis of measles, and 111 were admitted (47% female, 53% male). The main indications for admission were dehydration in 79%, pneumonia or pneumonitis in 47% and tracheitis in 32%. Thirteen children (11.7% of those admitted) required treatment in the intensive care unit, and in 7 of these mechanical ventilation was necessary. There were 3 deaths as a result of measles. Public health measures to curb spread of the disease included promotion of immunization for susceptible children nationally and recommending administration of measles-mumps-rubella vaccine (MMR) from the age of 6 months, in North Dublin. CONCLUSION: This outbreak of measles posed a major challenge to the hospital and the community for the first half of 2000. The national MMR immunization rate before the outbreak was gravely suboptimal at 79%, whereas the rate in North Dublin, the catchment area of TCUH, was <70%. Three children died as a result of a vaccine-preventable illness.
