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[Torticollis in children: do not forget the Sandifer syndrome]
A Dabadie1, M Roussey, C Treguier
1Service de Pédiatrie et Génétique Médicale, CHU Pontchaillou, RENNES.
Insights
Sandifer syndrome in infants can cause torticollis, a head tilt, due to severe gastroesophageal reflux (GER). Surgical treatment of GER resolved both the reflux and torticollis, confirming a causal link.
Area of Science:
- Pediatric Gastroenterology
- Neurology
Background:
- Sandifer syndrome is a rare condition characterized by abnormal posture and movement.
- Gastroesophageal reflux (GER) is a common condition in infants.
Observation:
- An infant presented with chronic regurgitation, vomiting, and progressive torticollis (head tilt).
- Neurological causes were ruled out via CT scan.
- Severe GER and esophagitis were diagnosed via pH monitoring and endoscopy.
Findings:
- Surgical intervention for gastroesophageal reflux (GER) led to the complete resolution of the infant's torticollis.
- This case establishes a direct causal relationship between GER and torticollis in Sandifer syndrome.
Implications:
- Highlights the importance of considering GER in infants presenting with unexplained torticollis.
- Suggests that prompt diagnosis and surgical management of GER can effectively treat associated neurological symptoms like torticollis.
Abstract:
We report a case of Sandifer syndrome with chronic torticollis and gastroesophageal reflux (GER). The infant exhibited regurgitations and vomiting from birth. Torticollis with a permanent tilt of the head towards the right developed at age six months. At 16 months, persistence of the vomiting and abnormal attitude of the head and neck led to a CT scan that outruled a brain tumor. Esophageal pH recordings disclosed severe gastroesophageal reflux (pH less than 4 for 46% of the time over 24 hours) and endoscopy showed ulcerated peptic esophagitis. Surgical treatment of the GER ensured both resolution of the reflux and disappearance of the torticollis, establishing the causal relationship between the former and latter manifestations.