Mungan et al. (2003) reported a large consanguineous Turkish family segregating autosomal recessive chronic idiopathic intestinal pseudoobstruction (CIIP) in which 3 sibs had megaduodenum, long-segment Barrett esophagus, and different cardiac abnormalities. Two brothers and a sister, ages 26, ... Mungan et al. (2003) reported a large consanguineous Turkish family segregating autosomal recessive chronic idiopathic intestinal pseudoobstruction (CIIP) in which 3 sibs had megaduodenum, long-segment Barrett esophagus, and different cardiac abnormalities. Two brothers and a sister, ages 26, 28, and 30 years, respectively, who had recurrent abdominal pain and pseudoobstruction from childhood, underwent upper endoscopy that revealed long-segment Barrett esophagus, hypomotility, and delayed gastric emptying. A biopsy of striated muscle in 1 of the brothers was normal. Esophageal manometry revealed aperistalsis and undetectable lower esophageal pressures, and barium small-bowel enema showed megaduodenum and delayed emptying. Cardiac murmurs were noted in all 3 sibs and echocardiography revealed 'trivial' supravalvular pulmonary stenosis and 2(+) pulmonary and tricuspid valve regurgitation in the 26-year-old proband, membranous ventricular septal defect in his brother, and 'trivial' pulmonic valve stenosis in their sister. Other findings in the sibs included epilepsy, glaucoma, and otosclerosis in the proband and bilateral ptosis in his brother. A male and female cousin, also born of consanguineous parents, were reported to have gastrointestinal complaints and died at 19 and 15 years of age, respectively. Deglincerti et al. (2007) investigated the Turkish family previously reported by Mungan et al. (2003) and found that the female cousin who died at age 15 did in fact have clinical and radiologic evidence of chronic idiopathic intestinal pseudoobstruction, as well as renal hypoplasia, vesicoureteral reflux, ascites, and unspecified granulomatous hepatitis. The authors examined full-thickness intestinal biopsies from the proband and his brother and observed abnormalities of both the neural and muscular components, suggesting an underlying neuromyopathy.