Mitochondrial encephalomyopathy with chronic intestinal pseudo-obstruction

Area of Science:

• Genetics
• Neurology
• Gastroenterology

Background:

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial disorder.
• The MT-TL1 m.3243A>G mutation is a common cause of MELAS.
• Chronic intestinal pseudo-obstruction (CIPO) is a rare but severe gastrointestinal complication of MELAS.

Purpose of the Study:

• To describe a case of severe CIPO in an 18-year-old female with MELAS.
• To highlight the challenges in managing MELAS-related CIPO.
• To discuss the potential impact of mitochondrial dysfunction on gastrointestinal motility.

Main Methods:

• Case report of an 18-year-old female with MELAS and CIPO.
• Review of clinical presentation, diagnostic findings, and treatment interventions.
• Analysis of patient's clinical course and outcome.

Main Results:

• The patient presented with recurrent abdominal distension, vomiting, and failure to pass stool, consistent with CIPO.
• Despite conservative management, jejunal feeding, and mitochondrial cocktail therapy, the patient experienced recurrent intestinal obstruction, infections, metabolic acidosis, and acute kidney injury.
• The patient ultimately progressed to multiple organ failure and died from severe metabolic acidosis and cardiorespiratory arrest.

Conclusions:

• MELAS-related CIPO can lead to severe, life-threatening complications.
• Management of MELAS-related CIPO is challenging and often requires multidisciplinary care.
• Aggressive supportive care and mitochondrial-targeted therapies may provide limited benefit in severe cases.