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PubMed1999

Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.

UNLABELLED: Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. CONCLUSION: It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.

Abnormalities, Multiple↗
PubMed2005

Renovascular hypertension complicated with VATER association.

We report herein a case of a girl with renovascular hypertension associated with VATER association. Her plasma renin activity and aldosterone were high. The ultrasonic echogram and renogram revealed a right hypoplastic kidney without function and a normal-sized left kidney with normal function. Renal angiography revealed a small diameter right main renal artery and a normal left main renal artery with segmental stenosis of left branching renal arteries in the middle segment. Selective renal vein sampling indicated that renin secretion was primarily from the left kidney. This is the first report of renovascular hypertension complicated with VATER association.

Abnormalities, Multiple↗
PubMed2005

Anorectal atresia treated with non-continent pull through and artificial bowel sphincter: a case report.

Anorectal atresia, which is classified as a low anorectal malformation, is characterised by the absence of the anal verge and by variable rectal atresia. In some cases, which have been classified as rectal agenesis, the atresia is associated with the absence of the internal sphincter. The therapeutic options are definitely surgical, aiming to relieve the bowel occlusion and to restore faecal continence by lowering the cul-de-sac to the perineum. We present the case of an adult patient with congenital rectal agenesis, double fistula (cul-de-sac-urethra and cul-de-sac-perineum) and caecostomy since birth. The patient was treated with a resection of sigmoid-rectum for the presence of a 20-cm faecaloma in the cul-de-sac, with a non-continent pull-through, and with implantation of an artificial bowel sphincter. Despite some difficulties in managing the device and a slight symptomatic mucosal prolapse, the results after 30 months have so far satisfied both the patient and the medical staff, especially in consideration of the limited number of alternative therapies.

Adult↗
PubMed2004

The combination of electrically stimulated gracilis neoanal sphincter and continent colonic conduit: a step forward for total anorectal reconstruction?

PURPOSE: Patients undergoing total anorectal reconstruction for anorectal atresia or following abdominoperineal resection of the rectum do not fare as well after an electrically stimulated gracilis neoanal sphincter as patients with incontinence alone. This retrospective study reports the outcome for the combination of a continent colonic conduit or antegrade continence enema procedure with an electrically stimulated gracilis neoanal sphincter in patients with atresia or following an abdominoperineal resection of the rectum as part of total anorectal reconstruction to overcome combined incontinence and evacuatory dysfunction. METHODS: Between September 1994 and September 1999, 11 continent colonic conduits were fashioned in 11 patients with an electrically stimulated gracilis neoanal sphincter as part of total anorectal reconstruction for end-stage fecal incontinence. In addition, three patients had an antegrade continence enema procedure in situ, one of which was converted to a colonic conduit at a later stage. Five patients had a colonic conduit fashioned subsequent to an electrically stimulated gracilis neoanal sphincter, four had both procedures in a combined operation, and five had a conduit formed before an electrically stimulated gracilis neoanal sphincter (including the three with an antegrade continence enema procedure). RESULTS: Median follow-up was 53 (range, 7-98) months until July 2002 or until exit from this study group because of end stoma formation (n = 6). Seven patients (50 percent) had a successful outcome, defined as continent to solid and liquid stool. Overall, eight patients (57 percent) reported some degree of improvement in their bowel function and were successfully managed by this combination of procedures. An end stoma was formed in six patients (43 percent). CONCLUSIONS: The combination of antegrade irrigation via a colonic conduit or an antegrade continence enema procedure provides a successful outcome for some patients when incorporated into total anorectal reconstruction, provided that sepsis does not occur, thus avoiding permanent stoma formation. The combination of these procedures may represent an improvement in total anorectal reconstruction and warrants further clinical trial.

Abdomen↗
PubMed2000

Surgical approaches to pediatric defecatory disorders.

Defecation is one of the most basic of human activities. Problems with evacuation of feces have plagued people since the beginning of time. In modern society, defecatory disorders are the source of embarrassment, discomfort, and stress. Society's lack of openness on this subject forces many people to endure their affliction silently. Nevertheless, although these conditions consume significant medical resources, little research has been done on their causes and treatment. This review summarizes recent developments in surgical treatment of children with these disorders, either in the ability to pass stool or the ability to control defecation.

Anus, Imperforate↗
PubMed1977

Cytogenetic investigation of cat-eye syndrome.

Using multiple chromosomal banding techniques, we studied a child with typical cat-eye syndrome and ocular retraction syndrome. Although the mother was was chromosomally normal, other maternal relatives showed features of the cat-eye syndrome, suggesting the basic abnormality is heritable. The abnormal chromosome in our case was most likely the product of reciprocal translocation where short arm plus centromeric chromatin from two separate acrocentric chromosomes fused together. The chromosomes involved were probably No. 22 and either Nos. 13 or 14. The basic underlying defect in cat-eye syndrome may be a heritable fragile site or some other predisposition leading to complex chromosomal interchange.

Adult↗