Our patient presented to the emergency department with multiple complaints having not seen a physician for 2 years due to financial constraints.  History was notable for gait abnormality onset age 3, speech dysfluency from age 9, and dysphagia from age 13. Family history was notable for mother with right arm pain and handwriting difficulty onset age 29 and two maternal cousins (age 4 and 5) with failure to thrive and non-specific developmental motor concerns. On exam, weight was below 1%ile for age. She had left foot inversion contracture, generalized dystonia with marked oro-lingual involvement, and severe dysfluency. Imaging identified a left 5^th metatarsal fracture. Medical neglect was considered as an etiology for failure to thrive. Fluoroscopic dysphagia study revealed aspiration and g-tube was placed. MRI brain showed moderate symmetric hypointensity along the bilateral globi pallidi. Trio whole genome sequencing revealed a novel missense variant in the KMT2B gene in mother and daughter. Subsequent examination of mother showed right arm and leg dystonia that had been previously unrecognized.

Patients presenting with failure to thrive with abnormal neurologic signs should undergo genetic testing to allow for precise diagnosis of rare genetic conditions that may be potentially treatable.