Hirschsprung's disease

Abstract

A Arshad paediatric specialist registrar 1 , C Powell general practitioner 2 , M P Tighe paediatric consultant 1 This is one of a series of occasional articles highlighting conditions that may be more common than many doctors realise or may be missed at first presentation. The series advisers are Anthony Harnden, university lecturer in general practice, Department of Primary Health Care, University of Oxford, and Richard Lehman, general practitioner, Banbury.To suggest a topic for this series, please email us at easilymissed@bmj.com.A 3 year old boy is brought to his general practitioner again by his worried mother. She is concerned that he remains constipated despite trying a third different laxative. Further history showed that he passed his first meconium only on day 5, and since then has been opening his bowels only weekly, with associated straining. His growth has fallen from the 25th to the 2nd centile for height and weight. On examination he has a distended abdomen with palpable stool throughout the abdomen.

Neuroglial differentiation of adult enteric neuronal progenitor cells as a function of extracellular matrix composition

“…It is a complex interplay between the smooth muscle of the muscularis externa and the two enteric neuronal plexi [1]. Aganglionosis of varying lengths of distal gut is the central pathology in Hirschsprung’s disease [2]. Enteric neuropathy is also secondary to several other disorders (diabetes, Parkinson’s disease, inflammation) resulting in gastrointestinal dysfunction [3, 4].…”

Adult congenital megacolon with acute fecal obstruction and diabetic nephropathy: A case report

“…Anorectal manometry in another hospital prior to admission to Yinzhou Peoples' Hospital indicated a lack of relaxation of the internal anal sphincter in response to rectal distension. In addition, the diagnosis of ACM should be confirmed with a rectal biopsy of a narrow segment (93% sensitivity and 100% specificity) (14). In the present case, the patient had a lifelong history of constipation and barium enema at another hospital revealed a dilated bowel loop; rectal biopsy was performed to attain a definitive diagnosis.…”

Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report

“…Anorectal manometry shows lack of relaxation of internal anal sphincter in response to rectal distension. Confirmation of diagnosis is provided by rectal biopsy of narrow segment (93% sensitivity and 100% specificity) (6). The rectal biopsy should be made on the back side of rectum, about 6 cm height, and it shows absence of ganglion cells, nerve fibers hyperplasia and an increased level of acetylcholinesterase (7).…”