Severe, recurrent hiatal hernia in Schwartz syndrome

ABSTRACT

An 18 months old baby boy was brought by parents with recurrent vomiting since birth, which had increased over the past four months, failure to gain weight, and altered facial features with delayed development. The baby was reported perfectly normal looking till the age of six months. The parents were first cousins, and married for four years. This was their second child and their first baby had died within a week of birth with an encephalocele. The patient had been variably treated for pneumonia, tuberculosis and malnutrition with no improvement. On examination the baby was emaciated and stunted weighing just 6.9 kg with a length of 68 cms, but alert and apprehensive of strangers. There was blepharophimosis with twitching of the upper eyelids, a puckered mouth and abnormal posturing of the limbs. The knees and elbows were flexed, hands fisted and feet were planter flexed. All joints could be passively extended with ease. There were no dysmorphic features. At 18 months of age the baby could not sit independently, though he could cruise along furniture on tip toes, could eat with his own hand, could speak with a vocabulary of 5-6 meaningful words and had appropriate fine motor movements so that he could draw a single match stick out of its box. Though there was generalized hypertonia, the tendon jerks were not exaggerated. Gastroesophageal reflux with tetany was the initial diagnosis. Urine R/E, Serum calcium, parathormone, bicarbonate and serum albumin, serum CPK, aldolase were within normal limits. Barium meal showed a sliding hiatal hernia with marked gastro esophageal reflux and a dilated esophagus. EMG and NCS showed no evidence of myopathy or neuropathy. Ultrasonography of abdomen and CT scan of brain were normnal. Radiograph of the clavicles was normal but the lumbosacral spine showed shortening of the vertebrae. Baseline ECG was also normal. Having excluded the other conditions, a diagnosis of Schwartz syndrome with hiatal hernia was made. After initial supportive management surgical correction with fundoplication was carried out. Carbamazepine helped to revert the tone to near normal. Three months later the patient weighed 9 kg but the tone was still more than normal. Ternaline was added to the treatment and the tone remarkably improved. A repeat barium meal at that time showed normal position of the stomach and a slightly dilated esophagus