Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy

Abstract

A 26-year-old man born to nonconsanguineous parents was admitted with complaints of muscle cramps, fatigue, recurrent abdominal pain, and vomiting since 10 years of age. Since 16 years of age, he noted progressive weakness of the proximal and distal muscles of all 4 limbs with intermittent worsening precipitated by febrile illnesses. He reported dysesthesias of the extremities and gait unsteadiness, which worsened in the dark. There was deterioration of symptoms with progressive dyspnea, orthopnea, dysphagia, early satiety, abdominal pain, and postprandial vomiting associated with a weight loss of 13 kg in the 6 months prior to presentation. Previous treatment received elsewhere included intermittent oral corticosteroids and azathioprine with suboptimal benefit. There was history of proximal weakness, recurrent abdominal pain, and respiratory involvement in his younger sibling (age at onset 20 years), who had died of the illness within 4 years of disease onset.