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1.
Article Dans Anglais | IMSEAR | ID: sea-173464

Résumé

Rapunzel syndrome is a type of trichobezoar, a very rare to find in clinical settings, wherein the hairball tail extends in small bowel. Patient may present with varying signs ranging from vague abdominal pain to signs of intestinal obstruction. This case describes averagely built, averagely nourished young female of 15 years of age, no e/o anemia, jaundice, lymphadenopathy; per abdominal examination revealed an elliptical lump in epigastric region extending to umbilical region, lump was not freely mobile and non-tender. Early gastroscopy is indicated in patients with long history of vague abdominal pain, weight loss and hair loss in young females.

2.
Article Dans Anglais | IMSEAR | ID: sea-183239

Résumé

Morquio’s syndrome is an autosomal recessive disorder due to deficiency of N-acetylgalactosamine-6 sulfate. Presented here is the case of a 4-year-old girl with complaints of deformity of bilateral lower limbs since 6 months. Examination revealed widely spaced teeth, corneal opacity, pectus carinatum, bilateral genu valgum and flat feet. X-rays of femur showed minimal metaphyseal widening, widened carpal bones and pointing metacarpals and beaking of the thoracic and lumbar vertebrae. She was diagnosed to be suffering from Morquio’s syndrome. Mucopolysaccharidoses (MPS) are a rare group of metabolic disorders due to deficiency of enzymes responsible for degradation of glycosaminoglycans. Treatment is mainly symptomatic.

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