Gastroesophageal reflux (GER) disease is a significant comorbidity of neuromuscular disorders. It may present as
paroxysmal dyskinesia, an entity known as
Sandifer syndrome. A 6-week-old neonate presented with very frequent paroxysms of generalized stiffening and opisthotonic posture since day 22 of life. These were initially diagnosed as
seizures and he was started on multiple
antiepileptics which did not show any response. After a normal video electroencephalogram (VEEG) was documented, possibility of
dyskinesia was kept. However, when he did not respond to symptomatic
therapy,
Sandifer syndrome was thought of and GER scan was done, which revealed severe GER. After his symptoms got reduced to some extent, a detailed clinical examination revealed abnormal
facies with flaccid
quadriparesis. Muscle biopsy confirmed the diagnosis of a specific congenital
myopathy. On antireflux measures, those episodic paroxysms reduced to some extent. Partial response to
therapy in GER should prompt search for an underlying secondary etiology.