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

Case Report

A 5-year-old African-American female child with a history of asthma, cerebral palsy, developmental delay, precocious puberty, and seizures was referred to our pediatric asthma and pulmonary clinic for evaluation and treatment of poorly controlled asthma. Her history for the first 21 months of life showed severe developmental delay of unknown etiology. After that time, she had repeated episodes of bronchiolitis, pneumonia, and reactive airway disease; asthma was diagnosed at the age of 4 years. Her daytime asthma symptoms improved with cromolyn, but her nighttime symptoms (coughing, wheezing, difficulty breathing) continued and required occasional corticosteroid bursts. She also had symptoms of allergic rhinitis that responded well to oral antihistamines.

Her family history revealed asthma and allergies in a sister and maternal grandmother, and her environmental history included cigarette exposure. According to the birth history, the pregnancy had been complicated by insulin-dependent diabetes mellitus, chronic hypertension, intrauterine growth retardation, and premature labor. The patient was delivered at 31 weeks' gestation by caesarean section and weighed 920 g. She required mechanical ventilation for 5 days, was gradually weaned from oxygen, and was discharged home at 6 weeks of age. Her medical history was most significant for developmental delay. She rolled over at 12 months and sat without support at 2 years of age. Currently, she is nonverbal but follows simple commands. She cannot reach for objects or feed herself, though she will grasp objects placed in her hand. She stands momentarily with support but is unable to walk.

During infancy, the child had daily episodes of vomiting, accompanied by back arching with hyperextension of the neck, drawing up the legs, and rolling back the eyes. Initially, these symptoms were attributed to colic. The back arching worsened with feeding. As she became older, the patient flexed her neck and tilted her head to the left side while sitting up.

At approximately 18 months of age, she began having episodes of bending her chest forward while in a sitting position associated with her eyes rolling back, gurgling noises in her throat, and stiffening of her trunk. At times, she would throw her arms, head, and chest back and then lurch forward. These episodes occurred daily, most notably after eating and at night. The episodes increased in frequency when the patient had respiratory illnesses. She often awakened at night screaming or crying and arching her back, followed by an episode as described. These episodes lasted no longer than 1 minute. No loss of consciousness or postictal period was ever noted.

At 22 months of age, the patient was referred to a pediatric neurologist for a possible seizure disorder. Physical examination at that time revealed a weight between the 25th to 50th percentile, height in the 75th percentile, and head circumference between the 5th to 10th percentile. An irregular breathing pattern was noted along with brief episodes of apnea. She was ataxic while sitting and had generalized decreased muscle tone and ankle clonus. She had repetitive hand movements but could not reach for or hold objects. An electroencephalogram (EEG) showed slowing of the intrinsic background activity, multifocal epileptiform discharges, and occasional slow and sharp activity in the right anterior region. Magnetic resonance imaging revealed mild cerebral, cortical, and deep white matter atrophy. Results of complete blood count, liver profile, and chromosome studies were normal. Cerebral palsy and a seizure disorder were diagnosed, and valproic acid therapy was started. One month later, felbamate was added. Her dystonic body posturing and seizure-like episodes decreased in frequency but were not fully controlled despite therapeutic serum levels. Felbamate therapy was discontinued after 3 months of use.

At the pulmonary and asthma clinic, moderate persistent asthma was diagnosed, and treatment was started with a medium-dose inhaled corticosteroid and a long-acting bronchodilator (salmeterol), both administered with a holding chamber and face mask. An esophageal pH study was attempted to diagnosis gastroesophageal reflux but could not be done because of the patient's agitation. An upper gastrointestinal series revealed mild gastroesophageal reflux without evidence of aspiration. Cisapride, 0.3 mg/kg/dose, was given four times a day 15 to 20 minutes before meals and at bed time, and ranitidine, 6 mg/kg/dose, was given in two divided doses. Within 1 month of starting the antireflux medications, both the seizure-like episodes and the nighttime asthma symptoms resolved. She was more alert during the day and could sleep through the night in a prone position.

Over the next few months, the inhaled corticosteroid therapy was discontinued, and nedocromil was added to the salmeterol regimen. The neurologist gradually discontinued the valproate therapy over the next 2 months.

At 6 years of age, symptoms of intermittent postprandial vomiting began. Cisapride therapy was discontinued, and bethanecol was added to the ranitidine after consulting with a pediatric gastroenterologist. During the bethanechol therapy, a 24-hour esophageal pH study with sedation showed significant gastroesophageal reflux. Shortly thereafter, a laparoscopic fundoplication was done. Esophagoscopy at the time of surgery showed inflammation of the lower esophagus. Esophageal biopsy was not done. After surgery, antireflux medications were discontinued.

Since starting treatment for the gastroesophageal reflux, the patient's asthma has been under excellent control, she is sleeping well through the night, and she is less irritable during the day. Since discontinuance of the antiepileptic medications 1 year earlier, she is more alert. To date, she remains free of dystonic body posturing, opisthotonic positioning, hyperextension of the neck with head tilting, and seizure-like activity.


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