Very rare form of muscular dystrophy that affects
females more often than males. Clinically, patients present with ptosis,
external ophthalmoplegia, and absence of intestinal peristalsis, leading to
abdominal pain, diarrhea, constipation, malabsorption, and progressive
Intestinal Pseudoobstruction with External
Ophthalmoplegia Syndrome; Familial Visceral Myopathy with Ophthalmoplegia.
Described for the first time in 1983 by V.
Ionasescu and S. Anuras.
Primary myopathic lesions affect the smooth
muscles (musculi propria) of the stomach, jejunum, and colon, while the
neurogenic structures (vagus nerve and myenteric plexus) are intact. This
disorder leads to progressive intestinal pseudoobstruction with
malnutrition. Ocular manifestations, such as ptosis and ophthalmoplegia, are
associated with the disorder because of occasional myopathic changes
(atrophy) of the striated muscles and involvement of the peripheral nerves
and central nervous system, characterized by demyelinating and axonal
neuropathy and focal spongiform degeneration of the posterior columns.
Early onset is characterized by ptosis and
ophthalmoplegia during childhood, gastrointestinal symptoms in teenage and
early adulthood years; death occurs before age 30 years. Late onset has a milder
course with ocular and gastrointestinal manifestations during the fourth and
fifth decades of life. Jejunal manometry, gastrointestinal contrast
roentgenograms (gastric atony with delayed gastric emptying, hypomotility
and dilatation of the small bowel with jejunal and ileal diverticula,
megaduodenum, possibly megacolon), and gastrointestinal biopsy (degeneration
and fibrosis of the intestinal muscle involving mainly the longitudinal
layer) contribute to the final diagnosis. In cases of associated muscular
weakness, electromyography shows delayed motor nerve conduction velocities,
and sural nerve biopsy may reveal loss of large myelinated fibers and axonal
loss. Striated muscle biopsies show myopathic changes involving both fiber
types. Creatine kinase levels are often normal.
Bilateral ptosis and external ophthalmoplegia
(limitation of eye movements in all directions) are associated with
gastrointestinal manifestations of chronic diarrhea and symptoms of chronic
intestinal pseudoobstruction leading to malnutrition. Some cases of
associated neuromuscular impairment (facial, proximal, and distal limbs
weakness with decreased deep tendon reflexes, limb hypesthesia) have been
described. Mitral valve prolapse may coexist. The main differential
diagnosis is oculopharyngeal muscular dystrophy, which consists of an autosomal
dominant transmission, ptosis, and ophthalmoplegia. The digestive
tract involvement consists only of difficulty in swallowing (no gastrojejunal
lesions) or a mitochondrial disease-like myopathy with peripheral
neuropathy, encephalopathy, and gastrointestinal disease (MNGIE Syndrome).
Obtain a full history of
gastrointestinal symptoms, “early” versus “late” onset of the disease,
associated neuromuscular manifestations, and/or mitral valve prolapse
(echocardiogram). Evaluate patient's volume status, electrolyte levels, and
obtain a hemoglobin level. If on total parenteral nutrition
(TPN), evaluate albumin, glucose, phosphate, calcium, and magnesium levels as well as
liver function tests. Muscular weakness seems to affect mainly the limbs (no
respiratory muscle weakness reported).
Optimization of fluid status must be
achieved. High risk of pulmonary aspiration mandates a rapid-sequence induction (if
associated myopathy, use nondepolarizing muscle relaxant). The intraoperative ...