Lip pits are a rare congenital anomaly that presents on the upper or lower lip or the commissure of the lips. Lip pits are an autosomal dominant trait occurring almost always in association with cleft lip or palate. They most commonly occur in association with developmental disturbances such as Van der Woude's syndrome, popliteal pterygium syndrome, oro-facial-digital syndrome, Marres-Cremers s...

MANY theories have been postulated to account for 'congenital megacolon' since the classical description by Hirschsprung in 1888. At first the dilated bowel of the megacolon attracted most of the attention but later most features of the disease were attributed to the absence of ganglion cells in an undilated segment of distal bowel. More recently, however, morphological and physiological observ...

Neonatal colonic perforation is a rarely seen condition. Plain abdominal radiography of a 28-hour newborn consulted for vomiting and bloody stool revealed the presence of subdiaphragmatic free air, which necessitated surgical exploration. Transverse colonic perforation was detected during the exploration, and subsequently, a colostomy and appendectomy were performed. The postoperative follow-up...

Fecalomas that need surgical management are uncommon. We report a rare case of giant fecaloma in a 22 years old female, with a history of constipation since childhood and an abdominal mass. Abdomen CT scan revealed a giant fecaloma filling sigmoid lumen without signs of ischemia or either complications. Laparotomy and fecaloma extraction trough colotomy was undertaken after failure of conservat...

In 1886, Harald Hirschsprung first described two cases of infantile constipation with colonic dilation, but he did not suggest any etiology or therapeutic option. Over the past 30 years, many studies have revealed the clinical presentation, radiological and histological diagnoses, surgical procedures, epidemiology, and associated genetics related to colonic dilation. Hirschsprung’s disease (HD)...

The receptor tyrosine kinase RET is expressed in cell lineages derived from the neural crest and has a key role in regulating cell proliferation, migration, differentiation and survival during embryogenesis. Germline and somatic mutations in RET that produce constitutively activated receptors cause the cancer syndrome multiple endocrine neoplasia type 2 and several endocrine and neural-crest-de...

The ret proto-oncogene encodes a receptor tyrosine kinase with a cadherin-like motif in the extracellular domain. Recently, it turned out that ret is the causative gene for the development of multiple endocrine neoplasia (MEN) type 2A and type 2B and Hirschsprung's disease. MEN 2A and MEN 2B mutations represent activating changes of ret whereas Hirschsprung mutations inactivate ret. In addition...