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)

Sacral agenesis is a rare disorder of uncertain incidence that has been reported in diverse populations. Although usually sporadic and most commonly associated with maternal diabetes, there is a hereditary form which may occur in isolation or with a presacral mass (anterior meningocele and/or presacral teratoma) and anorectal abnormalities, which constitute the Currarino triad (MIM 176450). The radiological hallmark of hereditary sacral agenesis is a hemi-sacrum (sickle-shaped sacrum) with intact first sacral vertebra. Bowel obstruction is the usual neonatal presentation, but, unlike other neural tube defects, adult presentation is not uncommon. The major pathology is confined to the pelvic cavity and may present as a space-occupying lesion or meningitis due to ascending infection. All recurrences in families have been compatible with autosomal dominant inheritance except for those associated with the isomerism gene at Xq24-q27.1 (ref. 3). Several associated cytogenetic defects have been reported, including 7q deletions. Previous studies failed to detect linkage to HLA markers, but we now present evidence for a location on 7q36. The same region also contains a gene for holoprosencephaly, an early malformation of the extreme rostral end of the neural tube.
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PMID:A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. 755 Mar 24

A case of an incomplete Currarino triad is reported. The baby underwent an emergency laparotomy due to a life-threatening intestinal obstruction caused by severe rectal stenosis. During the posterosagittal anorectoplasty (PSARP), a presacral teratoma was identified and resected. The tumor recurred three times; she initially responded to chemotherapy, but nonetheless died at the age of 4 years. In cases with evidence of anorectal stenosis, a presacral mass should be suspected. PSARP is the best choice of treatment for both the anorectal anomaly and excision of the presacral mass. The presacral region should be followed up closely for recurrence of the tumor.
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PMID:A case of incomplete Currarino triad with malignant transformation. 1041 2

Currarino syndrome consists of autosomal dominant hereditary sacral dysgenesis that is caused by mutations of the HOX gene, HLXB9. Sacral malformation, presacral mass, and anorectal malformations comprise the classic triad, but other common symptoms and malformations include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. Up to 33% of patients are asymptomatic. There is marked inter- and intrafamilial variability in expression, and no genotype/phenotype correlations have been identified. To date, 32 different mutations have been identified in HLXB9: all nine missense mutations were found in the homeodomain, while the others were nonsense, frameshift, splice site mutations, or heterozygous whole-gene deletions. We report a four-generation family with Currarino syndrome varying in severity from very mild to full expression of the Currarino triad. They were found to carry a previously unreported nonsense mutation, E283X, absent in tested asymptomatic first-degree relatives. This family provides additional information on the degree of intrafamilial variability associated with HLXB9 mutations.
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PMID:A previously unreported mutation in a Currarino syndrome kindred. 1690 59

We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.
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PMID:A case of Currarino's syndrome presenting as neonatal bowel obstruction. 2290 24