Síndrome de megavejiga-microcolon-hipoperistalsis intestinal: a propósito de un caso de supervivencia prolongada

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Abstract

El síndrome de megavejiga-microcolon-hipoperistaltismo intestinal (MMIHS) es una grave enfermedad congénita autosómica recesiva, caracterizada por distensión vesical e hipoperistaltismo intestinal que provoca obstrucción intestinal funcional en el neonato, además de otras alteraciones. Presenta una incidencia muy baja, en torno al centenar de casos se describen en la bibliografía; la esperanza de vida apenas supera el año falleciendo generalmente por procesos sépticos. El caso que se presenta triplica esta supervivencia, con una calidad de vida y desarrollo ponderal muy aceptables. La nutrición parenteral domiciliaria unida a un seguimiento y coordinación multidisciplinar muy estrictos, constituyen las claves del éxito en esta patología.

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Most cited references 19

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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.

S Meurling, Inger Marie L Olsen, G Annerén (1991)

We present 2 new patients with the megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment. MMIHS, as reported in 43 cases, is usually lethal. Most children die during the first year of life, and only 3 children survived their first year. We report the 6th pair of sibs with the disease. Overall, 17 patients reported have had sibs with MMIHS or the parents were consanguineous; 4 times the parents were first, cousins, confirming that this is an autosomal recessive disorder. The present 2 children, whose parents also were first cousins, were of different sex. They had typical MMIHS with abdominal distension due to pronounced megacystis, hydronephrosis, microcolon, and microileum, involving the distal part of the ileum, malrotation of the gut, and intestinal hypoperistalsis. Neither surgery nor medical treatment was successful and the children died at the age of 19 days and 2 1/2 months, respectively. There is no cure for the disease. However, a new protkinetic drug, Cisapride might be worth trying in these cases. Prenatal ultrasound diagnosis of MMIHS might be possible.

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Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis.

Arbay O Ciftci, Richard C.M. Cook, D van Velzen (1996)

Two infant boys with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) are reported. Presenting with neonatal intestinal obstruction, they underwent laparotomies that showed megacystis, microcolon, and aperistaltic shortened small bowel without any mechanical obstruction. Patient 1 gradually improved and is developing normally at home, on a normal diet without genitourinary or gastrointestinal complaints (now 11 years old). Patient 2, who underwent vesicoamniotic drainage antenatally, never developed adequate gastrointestinal or genitourinary function in spite of appropriate diversion and pharmacologic support. He showed progressive deterioration and died at the age of 7 months. Detailed histo-immuno- and ultrastructural pathology assessment, although confirming results in the existing literature in some aspects, showed previously unreported neuronal dysplastic changes associated with increased laminin and fibronectin. Although patient 1 showed ultrastructural features of vacuolar degeneration of smooth muscle as reported in the literature, patient 2 showed ultrastructural and histochemical evidence of excessive smooth muscle cell glycogen storage with severely reduced contractile fibres displaced to the extreme periphery of the cells, suggesting a fundamental defect of glycogen-energy utilization. A deficiency of fiber synthesis as the alternative primary defect is discussed. In both cases, a two-step genetic defect may explain the variability in clinical outcome and pathological findings.

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Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome.

M Masetti, J A Nery, Elzemar Rodríguez … (1999)

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonatal bowel obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in the majority of cases; most patients die before the age of 6 months. In this report, we describe our experience with three patients with MMIHS in whom multivisceral transplantation was performed. Three patients with MMIHS underwent multivisceral transplantation. All patients were females with a history of long-term total parenteral nutrition (TPN) with TPN-related cholestatic liver disease. Patient 1 died 17 months after transplantation because of aspiration after revision of her feeding gastrostomy. At the time of death, the graft was functioning and the patient was completely off TPN. Patient 2 is alive 17 months after transplant. She is a fully functional, active 2-year-old and has also recently begun oral feeding after intensive rehabilitation. Patient 3 died on day 44 of multisystem failure. This is the first report in the literature of multivisceral transplantation for MMIHS. Although one of the three patients died 44 days after surgery from multiorgan system failure, the other two patients had long-term survival after transplant and both grew well on enteral feeding alone. One patient died 17 months from a non-transplant-related complication, while the other is living at home off of TPN, with almost complete dietary rehabilitation 17 months after transplant. Our case reports suggest that multivisceral transplantation is a valuable therapeutic option for patients affected by MMIHS with TPN-induced liver failure.

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SciELO Spain ID:: S0212-16112008000700015

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http://creativecommons.org/licenses/by/4.0/

ScienceOpen disciplines: Nutrition & Dietetics

Keywords: Megacystis-microcolon-hypoperistalsis syndrome,Home parenteral nutrition,Multidisciplinary collaboration,Berdon syndrome,Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal,Nutrición parenteral domiciliaria,Síndrome de Berdon,Colaboración multidisciplinar

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ScienceOpen disciplines: Nutrition & Dietetics

Síndrome de megavejiga-microcolon-hipoperistalsis intestinal: a propósito de un caso de supervivencia prolongada

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Most cited references 19

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.

Megacystis microcolon intestinal hypoperistalsis syndrome: evidence of a primary myocellular defect of contractile fiber synthesis.

Multivisceral transplantation for megacystis microcolon intestinal hypoperistalsis syndrome.

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