ACHALASIA IN AN ADOLESCENT WITH FABRY DISEASE

Abstract

69 Fabry disease is an x-linked recessive disorder of sphingolipid metabolism resulting from a deficiency of the enzyme ceramide trihexosidase leading to an accumulation of ceramide trihexoside in various tissues. We present a 14 year old male diagnosed with achalasia subsequently diagnosed with Fabry disease. Achalasia associated with Fabry disease has only been reported in a 52 year old man. The patient presented with a 3 month history of dysphagia for liquids and solids and a 9 year history of recurrent bouts of burning pain on the bottom of his feet and hands. No heartburn, regurgitation, weight loss, abdominal pain, diarrhea or fevers was reported. Barium swallow revealed an abrupt smooth tapering of the distal esophagus. EGD was normal except for a narrowing of the distal esophagus through which the endoscope passed easily. Distal esophageal biopsies were normal. Esophageal manometry showed an elevated LES pressure (mean=35mmHg, nl=21+8) with incomplete relaxation of the LES. Wet swallows were followed by nonperistalsis confirming the diagnosis of achalasia. Pneumatic dilatation led to reflux symptoms treated with Omeprazole and Cisapride. A probable diagnosis of Fabry disease was made based on physical findings of periumbilical angiokeratomas and history of recurrent burning of hands and feet: confirmed by demonstrating a deficiency of leukocyte ceramide trihexosidase. DISCUSSION: Signs and symptoms of Fabry disease include attacks of burning pain in hands and feet, angiokeratomas around umbilicus, buttocks and genitalia, progressive renal insufficiency and cardiac such as conduction defects and myocardial infarction. This case suggests that achalasia is another manifestation of Fabry disease previously unreported in children. We speculate that sphingolipid deposition in the myenteric ganglia is the cause of achalasia although the mucosal biopsies obtained during endoscopy did not include submucosal or muscle layers to confirm this hypothesis. Children with achalasia should, therefore, be questioned about symptoms of Fabry disease and examined for signs such as angiokeratomas, renal insufficiency and cataracts. Family members should also be screened as this is an inheritable disorder.