[Chronic idiopathic intestinal pseudoobstruction and Berdon syndrome: still a diagnostic and therapeutic challenge for the pediatric surgeon].

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Chronic Intestinal Pseudo Obstruction (CIPO ) and Berdon Syndrome (BS ) are motility disorders with still unclear pathophysiology , and challenging diagnosis and management . Patient and methods . 26 patients (8 M /18 F ) treated of CIPO (21 ) or BS (5 ) at our institution between 1982 -2009 were retrospectively reviewed and clinical , diagnostic , therapeutic and follow-up data were analyzed .77 % had a neonatal onset by the 3rd month of life (5 had a prenatal diagnosis of megacystis ). Abdominal distension (87 %), recurrent suboclusive episodes (70 %) and malnourishment (60 %) were the main symptoms followed by vomits , chronic diarrhea , constipation and dysfagia . The urinary tract was involved in 12 patients (46 %): 8 had megacystis , 8 had vesicoureteral reflux . Arrythmias were seen in 2 , deafness in 1 , hydrocephalia in 1 and malrotation in 5 . Radiological studies were consistent for CIPO in all of them : the disease was limited to the esophagus in 1 , 3 had segmentary involvement of the small bowel , 6 had microcolon , and the rest had all the digestive tract involved . Anorectal manometry ruled out aganglionosis in 12 , esophageal manometry showed aperistalsis in 9 and antro-duodenal manometry confirmed the diagnosis in 9 (visceral myopathy in 4 y neuropathy in 5 ). Rectal biopsies (16 ) and muscular biopsies (5 ) were normal in all of them . Full thickness biopsies (in 18 , after surgery ) showed myopathy in 12 and neuropathy in 6 . Prokinetics and antibiotics for bacterial overgrowth were employed in 100 %, 17 required long -time parenteral nutrition (PN ), 21 required surgery and 7 were transplanted (4 isolated small bowel , 3 multivisceral ). Symptoms improved in 9 /15 with an ileostomy . 19 weaned from PN . After a median follow-up of 7 .9 years (range 5 m-17 a ), 3 were lost , 17 /23 patients are alive and only 2 on home PN . Six died , 3 after being transplanted .CIPO and /or BS have a wide clinical spectrum and a complex diagnosis ; however , the knowledge of the disease and an appropriate treatment , generally aggressive , allows the patients with CIPO to enjoy a long -term acceptable quality of life .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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