A case of congenital myopathy masquerading as paroxysmal dyskinesia

Area of Science:

• Neurology
• Pediatrics
• Gastroenterology

Background:

• Gastroesophageal reflux (GER) is a common comorbidity in patients with neuromuscular disorders.
• Sandifer syndrome is a rare condition where GER presents with paroxysmal dyskinesia, including opisthotonic posturing and abnormal movements.
• Differentiating Sandifer syndrome from neurological conditions like seizures is critical in neonates.

Observation:

• A 6-week-old neonate presented with frequent episodes of generalized stiffening and opisthotonic posturing, initially misdiagnosed as seizures.
• The infant's symptoms persisted despite multiple antiepileptic treatments and a normal video electroencephalogram (VEEG).
• Clinical examination revealed abnormal facies and flaccid quadriparesis, suggesting an underlying neuromuscular disorder.

Findings:

• A GER scan confirmed severe gastroesophageal reflux as the cause of the paroxysmal episodes.
• Muscle biopsy identified a specific congenital myopathy.
• Antireflux measures led to a partial reduction in the episodic paroxysms.

Implications:

• This case highlights that Sandifer syndrome should be considered in neonates with unexplained paroxysmal episodes, especially those with neuromuscular deficits.
• A partial response to GER therapy warrants a thorough investigation for secondary causes.
• Early recognition and management of GER in infants with neuromuscular disorders can improve outcomes and prevent misdiagnosis.