Dataset Information

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

ABSTRACT: Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects.

SUBMITTER: Siminas S

PROVIDER: S-EPMC4487125 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Siminas Sotirios S Baillie Colin Tennant CT Turnock Richard R

European journal of pediatric surgery reports 20150528 1

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" ...[more]

PMID: 26171318

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Project description:The patients with anorectal malformations (ARM) have been identified with specific and non-specific pathological changes. The present study was conducted with the aim to study histomorphological changes and various immunohistochemical (IHC) markers (calretinin, S-100, CD117) in intestinal wall specimens to assess neuronal dysfunction in ARM patients.Thirty children having ARM were included in our study. In all the cases, a representative biopsy was received. The tissue sections were processed and wax blocks were prepared. Various histopathological changes were examined on routine H&E. Representative sections were further subjected to IHC staining for ganglion cells (calretinin), interstitial cells of Cajal (CD117) and nerve bundles (S-100 protein). Descriptive variables were analyzed to assess neuronal dysfunction in cases of ARM. Chi-square was used to compare the categorical values. P-value <0.05 was accepted as statistically significant.Biopsies were studied for histological changes using H&E stain. The most frequently observed histological finding in mucosa was inflammation and congestion in 87% and 67% of cases respectively. Disrupted muscularis mucosa was observed in 60%, eroded mucosa in 57%, and hemorrhage in 40% of cases. Submucosal inflammation and congestion were most common finding observed in submucosa in 87% and 80% cases respectively. CD117 was used to demonstrate altered density and distribution of interstitial cells of Cajal (ICC) in cases of ARM. Majority of them belong to grade 2+ category (n=17, 57%) followed by grade 1+ (n=8, 17%) for ICC cells. Altered density and distribution of ICC was observed in ARM which was statistically significant (p=0.02).The malformed segments in ARM show various specific and non-specific histomorphological changes. Examination of H&E sections along with IHC stains evaluation can minimize need for repeated biopsies and unnecessary radical treatment. CD117 immunohistochemistry is reliable adjunctive test in evaluation of ICC in motility disorders of bowel. Calretinin is good marker for identification of ganglion cells. In ARM, density and distribution of ICCs is significantly altered which can explain postoperative dysmotility.

Dataset Information

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Publications

Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

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