This is a case of a 7-year-old Filipino female who presented with undulating movements of the abdomen that occur only while awake, following the initiation of treatment for clinically diagnosed pulmonary tuberculosis. Systemic physical examination was normal. The neurological examination was also unremarkable. The 2-hr video EEG showed no electroencephalographic changes or ictal pattern correlating with the abdominal dyskinesia, highly suggesting a movement disorder. Craniospinal Magnetic Resonance Imaging (MRI) with Gadolinium showed typical results. The patient responded to the trial of carbamazepine after three weeks of treatment with complete resolution of abdominal dyskinesia.
Neurology ; Movement Disorders

Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.