Apple peel syndrome in sibs.

Abstract

Short reports musculature and a very distended bladder. Ultrasound showed megacystis and bilateral hydronephrosis and an initial diagnosis of prune belly syndrome was made. It was proposed to proceed to bilateral open nephrostomies but the infant developed a cardiac arrhythmia and resuscitation was unsuccessful. She died aged seven hours.Necropsy. The abdominal wall muscle was found to be normal in quantity and structure. On opening the abdomen there was a hugely distended bladder with only a moderately thinned wall, bilateral megaureters, distended renal pelvis with extremely thin walls, and hydronephrosis. The urethra, anal canal, and rectum were patent.Although the duodenum and small intestine were contracted, the stomach was distended with gas, but no obstruction was found at the pylorus or in the duodenum. The small intestine was shortened and both this and the large intestine were empty. The ileocaecal junction lay free in the mid-abdomen. All other systems were grossly normal.Histology of the gastrointestinal and urinary tracts showed normal innervation. Thus, necropsy ruled out mechanical obstruction or absent innervation of the gastrointestinal and urinary tracts. CASE 2Prenatal. Ultrasound examination at 16 weeks confirmed a single viable fetus. Both fetal kidneys were hydronephrotic and the bladder was distended; the fetal stomach also appeared distended with no duodenal fluid observed. Liquor volume was normal. It was felt that this represented a recurrence of the syndrome observed in case 1 and termination was offered and accepted by the parents. This was undertaken the next day by extra-amniotic prostaglandin infusion and resulted in abortion of a female fetus.Necropsy. This showed a female fetus, weight 170 g, with a thin upper abdominal wall. The bladder, stomach, duodenum, and ureters were grossly distended. The urethra, anal canal, and rectum were empty and probe patent from below. There was malfixation and malrotation of the gastrointestinal tract with shortening of the small intestine. Histological examination showed apparently normal innervation of the gastrointestinal and urinary tracts. All other systems were normal.On review of both cases the diagnosis was revised to that of the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).Cell Megacystis-microcolon-intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg 1983;18:64-9. Correspondence and requests for reprints to Professor R J Lilford,

Apple Peel Small Bowel, A Review of Four Cases: Surgical and Radiographic Aspects

“…Jejunoileal atresias which could be single, multiple and familial 9,10 , can be identifi ed on the basis of polyhydramnios present during prenatal ultrasonographic evaluation 2 as was seen in Case 2 in the present study, Shalkow et al 2 also opined that some patients may not pass meconium in the fi rst day of life and this does not rule out intestinal atresia. All the neonates in this study passed meconium, even the Case 2 who was eventually found to have atresia of the sigmoid colon.…”

“…The bowel distal to the atresia is precariously supplied in a retrograde fashion by anastomotic arcades from the right ileocolic or inferior mesenteric artery [2][3][4][5][6][7]10 . Neonates with this distinct variant of atresia tend to have a familial pattern, are often of low birth weight and frequently have a number of associated anomalies 7,9 .…”

“…This term was fi rst used by Santulli and Blanc in 1961 1 . It is also called Christmas tree deformity with an intestinal atresia type IIIb where both intestinal segments are separated, the bowel is foreshortened and the mesenteric defect is large [2][3][4][5][6][7][8][9] . The bowel distal to the atresia is precariously supplied in a retrograde fashion by anastomotic arcades from the right ileocolic or inferior mesenteric artery [2][3][4][5][6][7]10 .…”

Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature

“…Apple peel intestinal atresia is a rare form of intestinal atresia that has been described in sibs, possibly due to an autosomal recessive inheritance in at least some families [Al-Awadi et al, 1981;Seashore et al, 1987;Farag and Teebi, 1989;Farag et al, 1993]. Table I summarizes the clinical details of the six previously described patients with apple peel intestinal atresia and anterior eye chamber anomalies and the present case.…”

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia

“…Apple peel atresia [29][30][31][32][33][34][35][36][37][38][39][40][41]: Inheritance shows an autosomal recessive pattern. The level of the proximal atresia is typically at the duodenojejunal junction, without sparing of the first few centimeters of jejunum as is common in nonfamilial cases, and there is almost always associated malrotation.…”