Initial septic, genetic/metabolic, and traumatic workups were largely unremarkable including normal MRI brain and spine, MR spectroscopy showing nonspecific delayed maturation versus hypomyelination, and CSF with high-normal protein and no pleocytosis.
Nerve conduction study showed small/borderline motor amplitudes without features of demyelination, with normal and robust sensory amplitudes. Needle electromyography showed very small low amplitude motor unit potentials (MUP) suggesting early recruitment for age. MUPs showed unstable configurations, suggesting a neuromuscular junction transmission defect.
A preliminary positive for BoNT/F in the stool was reported on DOL 17.