1548 - Spasticity management for a Pediatric Patient with Leigh Syndrome.

A 9-year-old Hispanic female admitted after a routine tonsillectomy and adenoidectomy, complicated by post-extubative respiratory distress, unresponsiveness, and posturing. Past medical history was limited to asthma and chronic tonsillitis. Family history was significant for death following anesthesia on her maternal side. A brain MRI showed symmetric ischemic infarcts in the basal ganglia and cerebellum. Labs demonstrated lactic acidosis, suspicious for an underlying mitochondrial disorder despite a normal birth and developmental history. Genetic testing revealed a mutation in the mitochondrial ND4 gene consistent with Leigh syndrome. Neurology recommended an antiepileptic regimen, mitochondrial disorder supplements, and updated the patient’s allergy list for a plethora of medications, ranging from aminoglycosides to Lactated Ringer’s. 

During her inpatient rehabilitation admission, she developed spasticity in all four extremities (notable MAS 3 in elbow flexion and extension), which was addressed with the addition of baclofen and Sinemet (levodopa-carbidopa).




Discussions: Leigh syndrome, a rare mitochondrial disorder, typically presents in infancy or early childhood as a progressive neurodegenerative disease, including developmental delay, hypotonia, dysphagia, and ataxia. Nonetheless, this case offers an abruptly late-onset (after 2-years-old) Leigh syndrome patient.  Due to the pharmacological challenges of Leigh syndrome, documented responses to spasticity treatments can be valuable in determining alternative management of dystonia. During the patient’s spasticity clinic visit, the patient’s mom noted decreased spasticity as it had allowed for greater ease in ADLs such as upper body dressing. Currently accepted management includes benzhexol, baclofen, tetrabenazine, and gabapentin. While there is evidence of Sinemet halting dystonic progression of basal ganglia infarcts, there is no documented case of Sinemet use in specifically Leigh syndrome dystonia.

Conclusions: This case report highlights beneficial treatment of dystonia with Sinemet (with plans to trial Botox) and could provide further literature support for spasticity management in mitochondrial disorders.