Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy

Title

Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy

Creator

Perez-Atayde AR; Fox V; Teitelbaum JE; Anthony DA; Fadic R; Kalsner L; Rivkin M; Johns DR; Cox GF

Publisher

The American Journal Of Surgical Pathology

Date

1998

Subject

Female; Humans; adolescent; Q3 Literature Search; Electron; Microscopy; Muscles/pathology; DNA; Biopsy/methods; Intestinal Pseudo-Obstruction/pathology; Mitochondrial Myopathies/pathology; Mitochondrial/analysis; Rectum/innervation/pathology

Description

A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The child appeared chronically malnourished and had severe growth failure. Multisystem involvement was evident with the presence of ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, and diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis and increased cerebrospinal fluid protein were observed. Mitochondrial enzyme analysis of fresh-frozen skeletal muscle revealed a respiratory chain defect. Molecular genetic studies showed multiple mitochondrial DNA deletions. Pathologic findings in the intestine included atrophy of the external layer of the muscularis propria and an increased number of abnormal-appearing mitochondria in ganglion and smooth-muscle cells. Microvesicular steatosis was observed in liver, skeletal, and gastrointestinal smooth muscle, and Schwann cells of peripheral nerve. Brightly eosinophilic inclusions in the cytoplasm of gastrointestinal ganglion cells were visible by light microscopy, which were confirmed to be megamitochondria by ultrastructural studies. This is the first report of abnormal mitochondria observed in intestinal ganglion and smooth-muscle cells in this syndrome.
1998

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

1141-1147

Issue

9

Volume

22

Citation

Perez-Atayde AR; Fox V; Teitelbaum JE; Anthony DA; Fadic R; Kalsner L; Rivkin M; Johns DR; Cox GF, “Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy,” Pediatric Palliative Care Library, accessed September 26, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12030.

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