Sandifer's Syndrome in a Child With Asthma and Cerebral Palsy

Lisa De Ybarrondo, MD, Lynnette J. Mazur, MD, MPH, Department of Pediatrics, University of Texas, Houston

South Med J. 2000;93(10) 

In This Article

Discussion

Sandifer's syndrome (torticollis without spasm of the neck muscles, dystonic body posturing and movements in association with gastroesophageal reflux, with or without a hiatal hernia) has been mistaken for neuromuscular or neuropsychiatric disease.[8] Bray et al[7] described six infants with a misdiagnosis of seizures; four of them were given anticonvulsants until the diagnosis of GERD was made. These patients had normal findings of neurologic examination and normal EEG, and none had required antiepileptic therapy after initiation of treatment for gastroesophageal reflux.[7] Mandel et al[8] described two children with an underlying neurologic dysfunction diagnosed as Sandifer's syndrome. The dystonic posturing of the neck and trunk was initially misinterpreted as a component of their neurologic disorder. As in our patient, all dystonic and seizure-like movements ceased after initiation of gastroesophageal reflux treatment.[8]

The torticollis in Sandifer's syndrome is described as head and neck movement with neck extension and rotation of the head to one side.[9] The body posturing was initially associated with a hiatal hernia and was thought to be involuntary and to give relief from abdominal discomfort.[10] More recent reports indicate that dystonic posturing is associated with gastroesophageal reflux without a hiatal hernia[11] and is believed to represent a response to discomfort caused by esophagitis.[9,11] Kinsbourne and Oxon[10] suggested that the dystonic posturing may actually increase gastroesophageal reflux.

Our patient's case began with subtle gastrointestinal symptoms, dystonic movements, and torticollis in early infancy. Her seizure-like movements were assumed to be seizures because of her underlying neurologic disorder and abnormal findings on EEG. A diagnosis of Rett syndrome was unlikely because she did not have regression in verbal and motor skills and had a normal chromosome study. The dystonic body posturing, torticollis, and opisthotonic positioning may have been interpreted as a feature of her cerebral palsy. Other than regurgitation and irritability at night, she did not have common symptoms of GERD or esophagitis, such as failure to thrive, gagging, choking, feeding problems, or anemia. The diagnosis of GERD was delayed until 5 years of age, when it was suspected because of her moderate persistent asthma with frequent nocturnal symptoms and her history of cerebral palsy. After starting antireflux therapy, the seizure-like episodes and dystonic body posturing ceased, and Sandifer's syndrome was then diagnosed.

Our patient is unlike the children with Sandifer's syndrome previously described in other case reports, in which seizures were erroneously diagnosed despite normal EEGs.[7,8] In our patient, repeated EEG 1 year after anticonvulsant therapy was discontinued still showed multifocal epileptiform discharges with slowing of intrinsic background activity. She may have an underlying seizure disorder but has not exhibited any seizure activity since discontinuance of anticonvulsant therapy. She is currently receiving follow-up care by a pediatric neurologist, and anticonvulsant therapy has not been restarted.

Pulmonary manifestations of GERD may include recurrent or chronic pneumonia, chronic cough, wheezing, recurrent croup, hoarseness, stridor, apnea, cyanotic spells, acute life-threatening events, or chronic sinusitis.[12] Respiratory problems may be the presenting manifestation unassociated with any typical symptoms of gastroesophageal reflux (silent reflux).[12] The association of gastroesophageal reflux and asthma is well documented and occurs more frequently in patients with asthma than in healthy subjects.[2,13,14,15] Our patient's diagnosis of asthma was based on medical history, physical examination, and signs and symptoms of recurrent episodes of airway obstruction that was responsive to asthma medication. The patient's atopy (allergic rhinitis) and a family history of asthma and allergies also supported this diagnosis, though she was unable to perform spirometry. Our patient had reflux-induced bronchospasm, which improved dramatically after starting antireflux medication. Before receiving the ranitidine and cisapride, she had poorly controlled asthma with frequent nocturnal symptoms of cough and wheezing. Currently, she has well-controlled mild persistent asthma without nocturnal symptoms.

Neurologically impaired children are at particular risk for GERD.[6,16,17,18] This case illustrates that GERD should be investigated in children with cerebral palsy or neurologic impairment so that misdiagnosis is avoided and pain and suffering can be relieved with appropriate intervention. Given the high prevalence of abnormal gastroesophageal reflux in patients whose asthma is difficult to control,[2,14] an evaluation for reflux should be considered in moderate to severe persistent asthma even when typical symptoms are absent. When GERD is associated with a neuromuscular disease, the diagnosis can be missed and erroneously diagnosed as a component of the neurologic disease. Health care providers need to be aware of Sandifer's syndrome, which may occur throughout childhood, affecting children with or without an underlying neurologic disorder.

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