Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During an 8-year period (1983-1991), blood karyotyping was performed in 235 fetuses with abdominal wall or gastro-intestinal tract defects. The overall incidence of chromosomal abnormalities was 29% (trisomy 21, n = 12; trisomy 18, n = 44; trisomy 13, n = 7; deletion of the short arm of chromosome 5, n = 1; unbalanced translocation involving chromosomes 4 and 15, n = 1; triploidy, n = 1; Klinefelter's syndrome, n = 1; and Beckwith-Wiedemann syndrome with mosaic duplication 11p15, n = 1). The karyotype was abnormal in 42 (36%) of the 116 fetuses with exomphalos, in none of the 26 with gastroschisis, in 10 (43%) of the 23 with duodenal atresia, in 18 (75%) of the 24 with lack of visible stomach, in 1 (4%) of the 24 with dilated bowel and in 2 (7%) of the 27 with echogenic hepatic nodules or abdominal cysts. Abnormal karyotypes were more commonly encountered when there was ultrasonographic evidence of multiple malformations (43%) compared to isolated defects (2%). Survival in fetuses with exomphalos (33%), absent stomach (4%), and large bowel obstruction (13%) was poor, whereas in those with gastroschisis (73%) or abdominal cysts (88%) survival was high; in small bowel obstruction and in duodenal atresia, survival was 65 and 57%, respectively.
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PMID:Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities. 138 85

Hypoglycaemic due to congenital hyperinsulinism in Beckwith-Wiedemann syndrome is commonly seen. It is usually transient and is managed by enteral feeds, high glucose-containing intravenous fluids and medications like diazoxide. We describe a case of an infant with genetically proven Beckwith-Wiedemann syndrome with prolonged hyperinsulinemic hypoglycaemia. Despite treatment with high glucose-containing intravenous fluids, diazoxide and octreotide, her hypoglycaemia persisted. In addition to this, she also developed features of intestinal obstruction, which further complicated the management of hypoglycaemia. She underwent a rectal biopsy for this, which was highly suggestive of Hirschprung's disease. Following surgery, her abdominal distension and feed intolerance were settled and sugar control was improved. We present a rare association of Hirschsprung's disease with Beckwith-Wiedemann syndrome. To the best of our knowledge, this association has not been previously reported and this added to the difficulty in managing hyperinsulinemic hypoglycaemia in our patient.
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PMID:Rare association of Beckwith-Wiedemann syndrome with Hirschsprung's disease in an infant with hypoglycemia. 3234 Oct 92