Paroxysmal head drops with ataxia-like symptoms presenting a
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Sandifer syndrome (SS) is a rare condition for which the diagnosis requires a high level of clinical suspicion. Since the initial manifestations of SS are neurological, patients are usually referred for lengthy, expensive and unnecessary testing, with concurrent misdiagnosis and inappropriate use of medication.

Here presents a case of Sandifer syndrome in a 3-year-old girl who initially presented with a history of recurrent paroxysmal head drops associated with ataxia-like symptoms and recurrent falls sustaining a clavicular fracture on one occasion. She was referred to and seen by the paediatric neurologist. Physical examination, electroencephalogram, MRI brain, electromyography single fibre study and blood tests were all normal. With the history of hiccups and choking-like episodes she was referred to the speech and language therapist (SALT). SALT assessment did not reveal indications of swallowing impairment or possible aspiration. A barium swallow later showed a small amount of reflux into the distal oesophagus. This prompted a trial of lansoprazole and she was referred to the gastroenterologists. Endoscopy and esophageal manometry were essentially normal. However, the pH impedance study revealed severe gastro-oesophageal reflux disease. She continued with lansoprazole and dairy-free diet and her symptoms resolved.

Learning points:

- Patients with paroxysmal abnormal movement or posturing,refractory to medication for epilepsy and movement disorders should be evaluated for Sandifer syndrome (SS) even in children beyond the infantile age group.

- We recommend that a dairy-free diet should be trialled in conjunction with medication prior to consideration of surgery.

- SS can present with no reflux symptoms.

- SS should be considered in cases of refractory seizures resistant to anticonvulsant therapy.

- Early diagnosis allows prompt treatment and relief of symptoms.

Source: https://casereports.bmj.com/content/13/3/e230989
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