Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

Megacystis-microcolon -intestinal hypoperistalsis syndrome (MMIHS ; OMIM %249210 ) is a rare and severe form of congenital intestinal and urinary dysfunction and malformation . Histologic studies suggest that the predominant intestinal manifestation is smooth muscle myopathy . Molecular observations have linked the disease to the neuronal nicotinic acetylcholine receptor (ηAChR ), namely the absence of a functional α 3 subunit of the ηAChR in patients with MMIHS . We describe a case of MMIHS in association with a de novo deletion of the proximal long arm of chromosome 15 (15 q 11 .2 ). Histologic evaluation revealed an appropriate light microscopic appearance of both the circular and longitudinal layers of the small bowel muscularis propria . Immunohistochemical staining for smooth muscle actin , however , was selectively absent in the circular layer , demonstrating isolated absence in a unique and previously undescribed pattern . These observations raise the possibility that the proximal long arm of chromosome 15 (15 q 11 ) may be of clinical significance in MMIHS .

Diseases
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adrenal incidentaloma

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cushing syndrome

dedifferentiated liposarcoma

dracunculiasis

dystrophic epidermolysis bullosa

esophageal carcinoma

focal myositis

heparin-induced thrombocytopenia

hodgkin lymphoma, classical

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neuralgic amyotrophy

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von hippel-lindau disease

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