Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy
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
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
Perez-Atayde AR; Fox V; Teitelbaum JE; Anthony DA; Fadic R; Kalsner L; Rivkin M; Johns DR; Cox GF
The American Journal Of Surgical Pathology
1998
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).
Journal Article
<a href="http://doi.org/10.1097/00000478-199809000-00014" target="_blank" rel="noreferrer">10.1097/00000478-199809000-00014</a>
Open lung biopsy in neonatal and paediatric patients referred for extracorporeal membrane oxygenation (ECMO)
Child; Humans; infant; Extracorporeal Membrane Oxygenation; infant; referral and consultation; Newborn; retrospective studies; Heart Defects; Safety; Biopsy/methods; Congenital/pathology; Hyperplasia/pathology; Lung/pathology; Respiratory Insufficiency/pathology/surgery/therapy; Thoracotomy/methods
BACKGROUND: This study was undertaken to determine the usefulness, safety, and most appropriate timing of open lung biopsy in infants and children considered for and on extracorporeal membrane oxygenation (ECMO) for respiratory failure. METHODS: A retrospective review of children referred for consideration of and placed on ECMO in our institution in the period 1996-2002. RESULTS: 506 patients were referred, 15 (3%) of whom underwent antemortem open lung biopsy (eight neonatal, four paediatric, and three cardiac patients). In the neonatal group open lung biopsy contributed to clinical decision making in all patients. Four neonates had a fatal lung dysplasia (three alveolar capillary dysplasia and one surfactant protein B deficiency) and treatment was withdrawn. Of the other four neonates, two had pulmonary hypoplasia, one had pulmonary lymphangiectasia, and one had meconium aspiration with mild barotrauma. Treatment was continued in these four patients and two survived. In the paediatric group the biopsies were of clinical relevance in two infants with pertussis who had lung infarction on biopsy in whom treatment was withdrawn. In the other two paediatric patients the biopsies were equivocal, treatment was continued, but both patients died. In the cardiac group, who presented perioperatively with pulmonary hypertension, the biopsies excluded a fatal lung dysplasia and severe pulmonary vascular disease but all three infants died. One patient had non-fatal bleeding complications. CONCLUSION: Open lung biopsy is clinically most useful when performed to diagnose fatal lung dysplasias in neonates and to confirm the presence of viable lung tissue in patients with acute lung injury due to pertussis infection.
2004
Inwald D; Brown K; Gensini F; Malone M; Goldman A
Thorax
2004
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).
Journal Article
<a href="http://doi.org/10.1136/thx.2003.010793" target="_blank" rel="noreferrer">10.1136/thx.2003.010793</a>