Neurological disorder related to ATP1A3: importance of diagnosis

Case presentation: JRCS, female, started, at 15 years old, dysphagia initially for solids, progressing to liquids, hand dystonia and anarthria after isolated fever. At the time she was admitted another pediatric center diagnostic investigation, with normal brain MRI, EEG ENMG. History of mother undiagnosed psychiatric disorder progressive gait dysfunction. age 16 hospitalized malnutrition associated worsening abnormal movements. Neurological examination evidenced: preserved cognition, motor aphasia, hypomimia, dysphagia, sialorrhea, absence vomiting reflex; reduced tongue motricity sensitivity, no myofasciculations; generalized hypotrophy, left upper limb rigidity, strength grade 4+, deep reflexes indifferent plantar cutaneous reflex, asymmetric foot dystonic posture (worse left), bradykinesia, distal muscle atrophy, ataxia or dysmetria; sensitivity. On admission previous tests were repeated, in addition echocardiogram, abdominal pelvic ultrasound, chest X-ray, cervical spine nasopharyngolaryngoscopy, all normal. The gene panel identified a mutation ATP1A3 gene.