Mesenteric Meckel's diverticulum: a case report.

Meckel's diverticulum, an omphalomesenteric remnant caused by the failure of the vitelline duct to involute by the seventh or eight week of gestation, was first described in 1809 by Johann Friederick Meckel. It is the most common congenital abnormality of the small intestine. It is usually located in the last 90 cm of the terminal ileum and is formed by all layers of the small intestine. It frequently contains heterotopic tissue, usually gastric mucosa. Here we report a 15-year-old white female who presented to the emergency ward with abdominal pain. Laparatomy was performed with the diagnosis of acute abdomen. A Meckel's diverticulum was found in the mesenteric aspect of the ileum. Histologic examination of the specimen revealed the presence of pancreatic tissue and oxyntic and antral type gastric mucosa showing chronic peptic ulceration apart from intestinal mucosa. This case report underlines the need for a revision in our understanding and classification of Meckel's diverticulum.

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Meckel syndrome (MKS) is a rare lethal autosomal recessive disorder characterized by the presence of occipital encephalocele, cystic kidneys, fibrotic changes of the liver and polydactyly. Joubert syndrome (JS)-related disorders (JSRDs) or cerebello-oculo-renal syndromes (CORS) are a group of recessively inherited conditions characterized by a molar tooth sign (MTS) on cranial MRI, a set of core clinical features (developmental delay/mental retardation, hypotonia, ataxia, episodic breathing abnormalities, abnormal eye movements) and variable involvement of other systems including renal, ocular, central nervous system, craniofacial, hepatic, and skeletal. A significant clinical overlap between MKS and JSRD/CORS has been recognized in the literature. We describe a group of 10 Hutterite patients, of which 7 had been previously diagnosed with MKS, with a JSRD. Clinical features include variable early mortality, cognitive handicap, a characteristic dysmorphic facial appearance, hypotonia, ataxia, abnormal breathing pattern, nystagmus, and MTS on MRI. Additional features include occipital encephalocele, posterior fossa fluid collections resembling Dandy-Walker malformation, hydrocephalus, coloboma, and renal disease. This JSRD is a recognizable dysmorphic syndrome characterized by hypertelorism, deep-set eyes, down-slanting palpebral fissures, ptosis, arched eyebrows with medial sparseness, square nasal tip, short philtrum with tented upper lip, open mouth with down-turned corners, and posteriorly rotated low-set ears. Renal disease is present in 70% of patients and is characterized by cystic kidneys, abnormalities in renal function and hypertension. Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD.