title: A case of congenital myopathy masquerading as paroxysmal dyskinesia.
abstract: 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.
authors.affiliation: Department of Pediatrics (Division of Child Neurology), All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Harsh
authors.initials: H
authors.lastname: Patel
authors.affiliation: Department of Pediatrics (Division of Child Neurology), All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Chakrabarty
authors.affiliation: Department of Pediatrics (Division of Child Neurology), All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.affiliation: Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mehar C
authors.initials: MC
authors.lastname: Sharma
authors.affiliation: Department of Pediatrics (Division of Child Neurology), All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Lokesh
authors.initials: L
authors.lastname: Saini
keywords: Congenital myopathy; Sandifer syndrome; gastroesophageal reflux; paroxysmal dyskinesia