Pyloric atresia epidermolysis bullosa aplasia cutis syndrome
| Autor: | Khaled Al Ali, Mohamed E. Hassan, Layla Taryam, Mona Khalaf |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Child abuse
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry Stomach medicine.medical_treatment media_common.quotation_subject Pyloric Atresia Autopsy aplasia cutis syndrome epidermolysis bullosa pyloric atresia medicine.disease Gastrostomy Dermatology Surgery medicine.anatomical_structure Pediatrics Perinatology and Child Health Medicine Gestation Epidermolysis bullosa Girl business media_common |
| Zdroj: | Annals of Pediatric Surgery; Vol 9, No 2 (2013); 84-86 |
| ISSN: | 1687-4137 |
| Popis: | The association between epidermolysis bullosa and congenital pyloric atresia is rare, but is a known distinct clinical entity with autosomal recessive inheritance. We report on a case of a baby girl born by cesarean section at 37 weeks’ gestation to a G7 P7 mother and weighed 2.84 kg. At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abdominal radiograph was thus performed and indicated absent gas in the small bowel and single bubble appearance of the stomach. Pyloric atresia was surgically corrected. Electron microscopy of skin biopsies showed junctional epidermolysis bullosa. There was typical nail dystrophy and no corneal lesions; ultrasonography for the renal system was normal. At 4 months of age, the baby required gastrostomy and fundoplication for severe failure to thrive. Six weeks after her second surgical procedure, the patient presented to the emergency room dead; the parents provided a typical scenario of sudden infant death syndrome at home. Examination indicated no signs of child abuse; the parents refused an autopsy exam for the child. Keywords : aplasia cutis syndrome, epidermolysis bullosa, pyloric atresia |
| Databáze: | OpenAIRE |
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