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

A case of multiple mucosal neuromata and a calcitonin-secreting medullary carcinoma of the thyroid is described. Unusual features were the neonatal presentation with large bowel obstruction and severe feeding difficulties associated with giant neuromata of the intestine; severe hypotonia; developmental delay; and the early recognition and treatment of an associated medullary carcinoma of the thyroid.
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PMID:Mucosal neuroma syndrome presenting in a neonate. 89 50

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.
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PMID:Mild case of Curry-Jones syndrome. 1653 40

Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who were treated in our clinic between 2007 and 2010. All patients suffered from myoclonic seizures and had at least one refractory convulsive status which led to the diagnosis. All of them had varying degrees of developmental delay, 2 of them additionally ataxia. Gastrointestinal motility problems were severe in all patients despite only mildly deranged liver function. While in most aspects our patients present with typical AHS features, they also share intestinal problems, a feature that has not been recognized as typical for AHS before. AHS is a multisystem disorder that does affect all cell systems. Liver and brain are organs with the highest energy demand and are therefore usually affected early in the disease course of AHS. However, constipation and bowel obstruction should be regarded as typical complications in AHS and patients should be monitored and treated to improve quality of life. Regarding treatment options for epilepsy in AHS ketogenic diet as well as lacosamide might be considered.
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PMID:Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 2200 80

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.
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PMID:Congenital chloride diarrhea in dizygotic twins. 2422 54

Pica is characterized by the persistent eating of non-nutritive substances over some time that is inappropriate for the maturation stage of the individual and is not culturally sanctioned. A 9-year-old boy with Goldenhar syndrome, significant developmental delay and pica, collapsed and died after a short history of diarrhea and vomiting. Death was due to a sigmoid volvulus resulting from filling of the distal colon with feces containing dirt, stones, and rice with evidence of ischemic intestinal necrosis. Lethal complications of pica include intestinal obstruction and perforation with peritonitis and generalized sepsis. Other findings at autopsy may include airway obstruction, heavy metal poisoning, and parasitic infestation. Presenting symptoms and signs of such complications may be subtle or masked given the nature of underlying conditions, and so careful evaluation of the medical histories of individuals with pica may be necessary to provide pertinent details of associated medical and psychiatric conditions.
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PMID:A review of the forensic implications of pica. 2497 10