A 20-year old man of Balkan descent presented to the emergency department with abdominal pain and constipation of several days‘ duration. On clinical examination, he was afebrile and normotensive. The abdomen was distended with reduced bowel sounds. Laboratory investigations were significant for hyponatraemia (129 mmol/l) and elevated aminotransferases in the double digits; inflammatory markers were normal. Abdominal ultrasound was unrevealing as to a specific cause but meteorism was noted. Cortisol response to an adrenocorticotrophic hormone stimulation test was normal. It transpired that the patient‘s father suffered from an unusual disease involving the gastrointestinal tract, more specific details could not be obtained at that time due to a language barrier. As symptoms worsened over the next days, computed tomography (CT) of the abdomen was performed, demonstrating marked and diffuse intestinal distension (Fig. 1A and B). A laboratory analysis revealed the cause.

Fig. 1CT scan of the abdomen (A, coronal and B, transverse plane) demonstrating marked intestinal dilatation with air-fluid levels. No signs of mechanical obstruction are apparent.