Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report.
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ABSTRACT: Background
A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies, were present.Case presentation
As part of our differential diagnosis we found elevated urine glycosaminoglycans, which triggered further investigation. Detailed examination showed flattening of the ribs, kyphoscoliosis and ovalization of the thoracolumbar vertebral body, strikingly short metacarpals, and very slight cardiac regurgitation. N-Acetylgalactosamine-6-sulfatase levels in the blood and dermal fibroblasts were very low, thus confirming diagnosis of Morquio A within 2 months of presentation. The patient was placed on elosulfase alfa enzyme replacement therapy and followed for 3 years.Conclusions
This case exemplifies the importance of considering mucopolysaccharidoses as part of the initial differential diagnosis of pediatric patients with skeletal deformities; urine glycosaminoglycan levels and a blood enzyme mucopolysaccharidoses panel are simple screening tests that could lead to early definitive diagnosis.
SUBMITTER: Yamauchi K
PROVIDER: S-EPMC8020529 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:UnlabelledIntroductionBlunt cardiac rupture is an exceedingly rare injury.Case presentationWe report a case of blunt cardiac trauma in a 43-year-old Caucasian German mother with pectus excavatum who presented after a car accident in which she had been sitting in the front seat holding her two-year-old boy in her arms. The mother was awake and alert during the initial two hours after the accident but then proceeded to hemodynamically collapse. The child did not sustain any severe injuries. Intraoperatively, a combined one-cm laceration of the left atrium and right ventricle was found.ConclusionPatients with pectus excavatum have an increased risk for cardiac rupture after blunt chest trauma because of compression between the sternum and spine. Therefore, patients with pectus excavatum and blunt chest trauma should be admitted to a Level I Trauma Center with a high degree of suspicion.
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