A prospective observational study of associated anomalies in hirschsprung's disease

Background: Hirschsprung's Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down's syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung's disease based on clinical features and according to the standards of care adopted for the general population.

Meningocele sacro anterior que simula quiste de ovario tabicado / Anterior sacral meningocele simulating ovarian cyst baffled

El meningocele sacro anterior es una rara anomalía genética asociada a enfermedades del tejido conectivo como el síndrome de Marfán, síndrome de Loeys-Dietz, la neurofibromatosis tipo 1 y otras. El objetivo del presente trabajo es presentar el caso de un feto con meningocele sacro anterior, inicialmente diagnosticado como un gran quiste de ovario multilobulado, en una paciente con diagnóstico de síndrome de Marfan. Se trata de una herniación del saco dural, a través de agujeros sacros amplios y deformados por ectasia dural, ocupada mayormente por líquido cefalorraquídeo. La punción de estas estructuras o su rotura en el acto operatorio se ha asociado a complicaciones graves e incluso la muerte(AU)

The anterior sacral meningocele is a rare genetic anomaly associated with connective tissue diseases such as Marfan syndrome, Loeys-Dietz syndrome, neurofibromatosis type 1 and others. The aim of this paper is to present the case of a fetus with anterior sacral meningocele, initially diagnosed as a large multilobulated ovarian cyst in a patient diagnosed with Marfan syndrome It is a herniation of the dural sac, through large sacral foramina, and deformed by dural ectasia, occupying mostly by cerebrospinal fluid. Puncture or rupture these structures during surgery has been associated with serious complications and even death(AU)

A Case of Anterior Sacral Meningocele with Pneumocephalus and Meningitis

Anterior sacral meningocele is a rare congenital lesion. Since its description by Bryant in 1838, less than 300 cases have been reported in the literature. The authors report a case of anterior sacral meningocele with pneumocephalus and meningitis, which was misdiagnosed as an ovarian cyst and was aspirated. The clinical, radiological, histopathological, and neurosurgical features of the lesion are discussed with a review of the literatures.

Anterior Sacral Meningocele: Case Report

Anterior sacral meningocele is a rare congenital lesion. The authors report a case of anterior sacral meningocele in a 51-year-old male who complained of lower abdominal pain and small caliber stool. Myelogram and magnetic resonance imaging(MRI) revealed a meningocele on anterior part of the sacrum communicating to the spinal canal. Total laminectomy on S 3, 4 and a ligation of the spinal canal between normal dura and meningocele on S 2/3 level were carried out. The patient returned to home 2 weeks postoperatively with complete relief of symptoms.

Symptomatic Intrasacral Extradural Cyst:"Occult Sacral Meningocele" and "Tarlov's Cyst"

Twenty eight year-old male with 3 year history of radiating pain to both thighs and thirty six year-old female with one year history of perineal hypesthesia and constipation were presented. The clinical features, radiologic features, surgical techniques and complications are described. In both cases, postoperative cerebrospinal fluid leakage was developed and managed successfully with lumbar drainage and rest respectively. The preoperatively presented symptoms were completely disappeared after surgery.