Associate Staff Cleveland Clinic Avon, Ohio, United States
Case Diagnosis: Inpatient Rehabilitation of a 28-month-old male with Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a case report
Case Description: The patient presented to the ED with left upper and lower extremity weakness and stiffening preceded by a diarrheal illness. MRI brain demonstrated T2 hyperintensity in the right caudate, thalamus, and anterior hippocampus concerning for post-viral changes. After extensive negative workup, the patient was diagnosed with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in setting of encephalopathy, high serum lactate, and elevated alanine. The patient was started on L-arginine. He was admitted to the pediatric inpatient rehabilitation hospital initially requiring total assistance for 5’ of ambulation and maximum assistance for standing. At discharge he required minimum assistance up to 150’ of ambulation, standing with contact guard assist, and minimum assistance for ascending 4 6” steps.
Discussions: MELAS is a rare maternally inherited genetic syndrome that can result in stroke-like episodes resulting in hemiparesis and is associated with seizures and vomiting. Most MELAS cases are associated with a variant in the MTTL1 gene. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. L-arginine is believed to benefit MELAS by potentiating nitric oxide pathways and inducing vasodilation. Stroke-like lesions differ from traditional embolic or thrombotic ischemic events as lesions are not limited to vascular territories and signal changes may migrate, fluctuate, or resolve more quickly than a typical ischemic stroke. Because of the neurologic damage, patients often present with severe functional deficits and can benefit from intensive interdisciplinary therapies.
Conclusions: MELAS is a rare mitochondrial genetic disorder which can result in stroke-like symptoms. MELAS patients with stroke-like symptoms can benefit from acute inpatient rehabilitation.