Clinical Pediatrics | 2019
Recurrent Episodes of Hypotonia, Encephalopathy, and Quadriparesis in a 3-Year-Old Female
Abstract
A previously healthy 3-year-old female with mild gross motor and language delays presented to a local emergency department with the sudden onset of decreased level of consciousness and generalized hypotonia. Initial neurological examination was notable for hypotonia, somnolence, and areflexia. After several hours, she became more alert and her strength improved. Initial workup included a comprehensive metabolic panel, complete blood count, urinalysis, urine drug screen, chest X-ray, and head computed tomography, and all were unremarkable. Lumbar puncture noted a white blood count of 0, red blood count of 3, protein of 21, and glucose of 109 with a negative meningoencephalitis panel (see Table 1 for full laboratory values). She was given a dose of ceftriaxone and transferred to a tertiary care hospital for further workup and treatment. At our facility, she continued to have episodes of severe somnolence and hypotonia, and eventually developed frank quadriparesis and inability to speak. An extensive workup, including brain magnetic resonance imaging (MRI)/magnetic resonance venography (MRV), spine MRI, electroencephalogram (EEG), and repeat lumbar puncture was unrevealing. At this point, additional history was obtained that the patient had consumed homecanned applesauce a few days prior to onset of symptoms. Her condition deteriorated further, and she was admitted to the pediatric intensive care unit (PICU) for airway management. Botulism was considered, and after discussion with the Centers for Disease Control and Prevention, she was treated empirically with botulism antitoxin. She did not require intubation, and slowly returned to normal over the course of 2 weeks. Botulism toxin testing on serum, stool, and samples of the applesauce returned negative. After discharge, she continued to have self-limited episodes of hemiparesis and quadriparesis, recovering over several hours, often triggered by fatigue. At hospital follow-up in the pediatric neurology clinic, her constellation of symptoms along with negative testing prompted the diagnosis of alternating hemiplegia of childhood. She was started on oral flunarizine. Genetic testing returned with a probable disease-causing mutation in the gene associated with this disorder. Since starting flunarizine, she has had rare episodes of weakness, typically only with extended exercise.