Currarino triad associated with hirschsprung’s disease

Baltogiannis, Nikolaos; Mavridis, G.; Soutis, Michael; Keramidas, D.C.

doi:10.1016/s0022-3468(03)00199-4

Cited by 46 publications

(37 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our case of Hirschsprung disease associated with Currarino triad (Fig. 2) is extremely rare and according to our knowledge, is it only the third reported case in the literature ever (45,46). Also several other authors described cases of skeletal or limb anomalies in different syndromes associated with Hirschsprung disease.…”

Section: Hirschsprung Disease and Skeletal Limb And Digital Anomaliesmentioning

confidence: 51%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

View full text Add to dashboard Cite

The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological defi cit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary defi ciency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). Text in PDF www.elis.sk.

show abstract

Section: Hirschsprung Disease and Skeletal Limb And Digital Anomaliesmentioning

confidence: 51%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

View full text Add to dashboard Cite

show abstract

“…[1][2][3][4][5][6] It has been shown in several studies that there is no statistically significant difference in the functional outcome with respect to bowel function between the various pull through surgeries. [7][8][9][10][11] As with many surgery, for HD also has some long and short term complications.…”

Section: Discussionmentioning

confidence: 99%

“…One of the more intriguing approaches was a lumbar sympathectomy, or spinal anaesthesia. 6,7 Theoretically removal of the sympathetic input to the distal rectum would result in predominance of parasympathetic or relaxation impulses. Several patient had an improvement in symptoms with this approach, but the procedures was eventually condemned by Ladd.…”

Section: Introductionmentioning

confidence: 99%

Assessment of functional outcome in patients of Hirschprung’s disease following two stages Duhamel pull through

2020

IJMPO

View full text Add to dashboard Cite

Purpose: The aim of this study was to assess the functional outcome in patients of Hirschprung's disease (HD) following two stages Duhamel pull through operation, that is levelling colostomy followed by the pull through. Materials and Methods: The study was conducted in the Department of Pediatric Surgery of a busy tertiary care children's hospital. Patients who completed the two stage Duhamel pull through operation at least 6 months prior and aged more than three years were included in the study. The quality of life (QOL) was assessed by using a questionnaire to the parents and clinical examination of the child. Continence status was assessed by applying the Krickenbeck Score.

show abstract

“…La asociación entre la enfermedad de Hirschsprung y las malformaciones anorrectales es rara, con una incidencia del 2,8 al 3,4% (10) , por lo que su concurrencia con el síndrome de Currarino era una posibilidad desde la descripción del mismo. En la literatura actual hay dos casos publicados de su presencia conjunta lo que sugiere que ambas anomalías comparten una patógena embriogenética común (11) .…”

Section: Figura 5 Imágenes Axiales Consecutivas De Resonancia Magnétunclassified

“…Si una estenosis anorrectal, incluida la enfermedad de Hirschsprung, es detectada en un niño, los otros dos componentes de la triada de Currarino deben ser buscados (10) y dichos pacientes deberían ser examinados con placa simple de región pélvica y resonancia magnética lumbosacra (11) . Es labor fundamental del médico radiólogo sospechar ambas 4a 4b 5a 5b entidades ante los hallazgos descritos, recordar su asociación y recomendar la pruebas diagnósticas necesarias para alcanzar un correcto diagnóstico.…”

Section: Figura 5 Imágenes Axiales Consecutivas De Resonancia Magnétunclassified

Síndrome de Currarino y enfermedad de Hirschsprung: Una asociación poco frecuente

et al. 2012

Rev. chil. radiol.

View full text Add to dashboard Cite

IntroducciónEl síndrome de Currarino es una malformación congénita poco frecuente en la que, a una agenesia sacra parcial se pueden asociar, en forma de triada, masa presacra, malformaciones anorrectales y urogenitales (1) . La enfermedad de Hirschsprung, también se puede asociar a dicho síndrome.El objetivo de este trabajo es recordar la asociación de ambas entidades así como sus principales hallazgos radiológicos con la finalidad de que el radiólogo, en su práctica habitual tenga en cuenta que ante un síndrome de Currarino con estenosis rectal puede deberse a un Hirschsprung y que en un niño con enfermedad de Hirschsprung debe buscar los otros componentes de la triada de Currarino.Presentamos el caso de un niño de 3 años. Desde los 2 meses de vida presenta estreñimiento con estenosis anal (que se describe como de aspecto fibroso a 1 cm del margen anal) que impide el tacto rectal, realizando dilatación anal a los 6 meses. El paciente es controlado en la consulta de cirugía persistiendo el estreñimiento y la estenosis anal, con ampolla rectal distendida, decidiendo a los 12 meses de vida la realización de cut-back y biopsia de mucosa-submucosa rectal con resultado anatomopatológico de ausencia casi completa de células agangliónicas, siendo diagnosticado de enfermedad de Hirschsprung. Persiste la clínica de estreñimiento y a los dos años y medio de edad se procede a tratamiento quirúrgico vía transanal con ampliación mediante plastia posterior y resección parcial de la zona fibrosa más posterior. Durante dicho ingreso tras enema opaco cuyos hallazgos confirman la sospecha clínica de Hirschsprung (Figura 1) se detecta ausencia de cóccix en la radiografía simple

show abstract

Currarino triad associated with hirschsprung’s disease

Cited by 46 publications

References 29 publications

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Assessment of functional outcome in patients of Hirschprung’s disease following two stages Duhamel pull through

Síndrome de Currarino y enfermedad de Hirschsprung: Una asociación poco frecuente

Contact Info

Product

Resources

About