Abstract
A 12 year-old boy was referred with the complaint of vomiting six times in a day. History was marked by premature birth at the 28th gestational week, birth asphyxia, cerebral palsy, motor mental retardation, and epilepsy. He had been treated chronically with baclofen, diazepam, and L-Dopa and had been hospitalized for chronic constipation and rectal bleeding twice. Evaluation for metabolic diseases was reported to be normal. His parents were not relatives, and he had two healthy siblings. Physical examination was characterized by normal vital signs, impaired anthropometric development including head circumference, severe mental–motor retardation, and spasticity in all extremities. Laboratory tests revealed low hemoglobin (10.8 g/dl), low mean corpuscular volume (MCV) (74 fl), and normal kidney and liver function tests and electrolytes. Urinalysis showed microscopic hematuria; urine culture was sterile. Persistent and bloody vomiting necessitated stopping enteral feeding and placement of a nasogastric tube. Abdominal ultrasonography could not be interpreted
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