A 6-Month-Old Boy with Uncontrollable Dystonic Posture of the Neck

A6-month-old boy was admitted to the Department of Paediatrics, University of Chieti, Italy, with a 3-month history of uncontrollable dystonic posture of the neck. During the second month of life, the child began to present with a twisting of the neck to one side that persisted for 7 days, after which the abnormal position moved to the other side. The movements were not associated with vomiting, cyanosis, loss of consciousness, tonic or clonic movements, or a post-ictal state. The child’s personal medical history was otherwise unremarkable. Many different specialists, including orthopedic surgeons, otolaryngologists, orthoptists, and ophthalmologists, examined the child and found no evidence of pathology. The investigations included electroencephalograms, magnetic resonance imaging of the head, and X-ray and ultrasound of the neck, but showed no anomalous findings. On admission, physical examination revealed normal growth parameters, vital signs, and neurological findings. After sound stimulation, the child showed difficulty in turning his head to the opposite side and presented resistance to passive mobilization of the neck. A specialist in neurological evaluation demonstrated reduced reaction to the environment and a slight reduction of ocular motility due to torticollis. Laboratory investigations, including a complete blood count; blood electrolytes; serum pyruvate, lactate, and ammonium levels; and urine and blood amino acids, were within normal range. An occult blood test produced a negative result. A paroxysmal non-epileptic event was suspected and 24-hour pH metering revealed postprandial acid reflux of severe grade. Gastroesophageal ultrasound excluded the presence of hiatal hernia. Therapy with ranitidine (8 mg/kg per day) was started, after which symptoms rapidly improved and then disappeared completely within a few days. After 8 months of treatment with ranitidine, the treatment was ended and no problems have recurred. A 6-Month-Old Boy with Uncontrollable Dystonic Posture of the Neck