Letters to the Editor

Abstract

19 August 2007 Dear Editor, A CASE OF SANDIFER'S SYNDROME: SIGNIFICANCE IN THE DIFFERENTIAL DIAGNOSIS OF GROWTH RETARDATION Sandifer's syndrome presents classically with gastroesophageal reflux and dystonic movements, often associated with hiatus hernia. Here we describe an unusual case of a Sandifer's syndrome in a 8-year-old boy who presented growth retardation as an initial manifestation and developed abnormal neck movement with an interval of 3 years. The patient was referred to our hospital with paleness and a 3-year history of growth failure, his height and weight being just above −3 SD and −1.5 SD, respectively (Fig. 1). His growth was within the normal range; however, it became markedly retarded after age 5 (Fig. 1). The milestones of mental development were normal. The patient had no complaint of abdominal pain, diarrhoea, nausea or vomiting. There was no history of mucus or blood in the stools; however, intermittently, stool samples contained occult blood. On physical examination, the patient's skin and conjunctivae were very pale. Routine investigations revealed anaemia with 5.4 g/dL haemoglobin and hypoproteinemia (4.8 g/dL) with 3.2 g/dL albumin. Inflammatory markers were negative. Growth hormone under basal conditions and after stimulation tests was within the normal range. Abdominal ultrasound scan and colonoscopy showed negative findings; thus, the patient underwent an upper endoscopy to detect the bleeding source. At endoscopy, multiple ulcers and erosions were seen in the distal oesophagus (Fig. 2). The stomach and the duodenum appeared normal. Histopathologic examination of the biopsy specimens showed no significant eosinophilic infiltration in the oesophageal and gastric mucosa. To examine gastroesophageal reflux, he underwent 24-h pH monitoring. The 24-h study confirmed severe gastroesophageal reflux, with a reflux index (percentage of time the pH was less than 4 in the lower esophagus) of 60% (normal < 4%). Interestingly, within 6 months after the referral to our hospital, the patient developed tilting of the head towards the right shoulder. Other than tilting of the head, no other abnormalities were found on neurological examination. Based on gastroesophageal reflux with abnormal movement, we diagnosed the patient as having Sandifer's syndrome. The patient was treated with prokinetic agent and lansoprazole (1.5 mg/kg/day). Three months after starting the treatment, a repeat upper endoscopy showed an improvement of oesophageal lesions. His haemoglobin and total protein levels returned almost to normal, although his growth had remained poor (height −3.08 SD, weight −1.52 SD) and the tilting of the head remained no improvement. Nissen fundoplication was, therefore, carried out at the age of 10 years. Three months after operation, abnormal posturing, anaemia and hypoproteinemia had resolved with the improvement of poor eating behaviour. During the 32-month follow-up after the operation to date, growth retardation had remarkably improved (Fig. 1). The clinical and biochemical resolution after surgical treatment let us confirm that growth retardation was originated from gastroesophageal reflux with esophagitis. In the patients with gastroesophageal reflux, poor weight gain is sometimes found; however, short stature is rarely ever associated.1 On the other hand, growth retardation with short stature is a frequent extraintestinal manifestation of inflammatory bowel disease in children and adolescent.2 Reduced calorie intake, steroid use and a direct effect of inflammation have been proposed as potential aetiological factors. In our case, growth hormone test was normal thus reduced calorie intake, and an oesophageal inflammation may cause growth retardation. The present report suggests that erosive oesophagitis with gastroesophageal reflux can cause short stature. In Sandifer's syndrome, dystonic movement appears in the early phase and is important as a differential diagnosis of movement disorders in neurological field.3-5 As far as the literature survey shows, there is no report that dystonic movement appears with a long internal. In the case of having vomiting, abdominal pain with abnormal posturing, it is not difficult to suspect Sandifer's syndrome. However, if the patient does not have any typical symptoms, differential diagnosis is complicated. Our case suggests that abnormal movements may arise with intervals after the onset of oesophagitis and that Sandifer's syndrome should be taken into consideration as a cause of growth retardation. Comparison of patient's growth curve with growth curve of normal Japanese boys. PPI, Proton Pump Inhibitor. Endoscopic appearance. Multiple ulcers and erosions in the distal oesophagus.