Paroxysmal torticollis with abnormal eye movements

Specialty: Pediatrics.

• Sandifer syndrome
• torticollis due to gastroesophageal reflux
• dystonic postures of the infant

Why it occurs

• Pathological Gastroesophageal Reflux or severe GER (main cause of Sandifer Syndrome; it is a reflex neuromuscular response of the infant to esophageal pain or discomfort caused by gastric acid, adopting postures of cervical hyperextension and head turn that physiologically clear the esophagus of acid)
• Myoclonic epilepsy or focal motor seizures in the infant (repetitive and spasmodic movements of the neck associated with paroxysmal cerebral discharges)
• Congenital muscular torticollis (persistent shortening of the sternocleidomastoid muscle detectable by palpation of a hard, non-paroxysmal muscular olive)
• Obstructive sleep apnea syndrome (adoption of cervical hyperextension postures to maintain a patent airway)
• Demyelinating diseases or posterior fossa tumors (which alter cervical tone and persistently induce torticollis postures).

Initial workup

The clinical diagnosis is based on direct observation of the temporal sequence (the dystonic posture of hyperextension of the neck and trunk typically occurs during or within 30 minutes after feedings and is usually accompanied by regurgitation, irritability and crying). pH-metry or 24-hour esophageal impedanciometry (the highly sensitive study of choice to confirm the exact coincidence of cervical dystonic episodes with acid or non-acid reflux episodes in the esophagus). Electroencephalogram (EEG) of wakefulness and sleep for 24 hours if there is reasonable diagnostic doubt with primary epileptic seizures. Cervical ultrasound if an anomaly of the sternocleidomastoid muscle is suspected.

Standard management

• The treatment is aimed at reducing painful esophageal reflux. Milk formula thickeners and postural measures — keep the infant in a vertical position for 20-30 minutes after feedings
• Omeprazole — proton pump inhibitor, of choice if reflux esophagitis or severe Sandifer Syndrome is confirmed; dose of 0.5 to 1.5 mg/kg/day orally on an empty stomach as a single daily intake
• Ranitidine — H2 antagonist, currently out of use or withdrawn in many countries due to impurities; replaced by alternatives such as Famotidine if H2 antagonist is preferred; dose of 1 mg/kg/day
• Do not use routine antiemetics or prokinetics such as metoclopramide due to the risk of severe extrapyramidalism.