Acute pancreatitis: a rare complication in a patient with senior loken syndrome.

Abstract

Introduction: Senior-Loken syndrome is a rare entity that combines familial nephronophthisisand retinal dystrophy. It has an autosomal recessive inheritance pattern and is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the first or second decades of life. Systemic associations of this syndrome include sensorineural hearing loss, liver fibrosis or cerebral vermis hypoplasia. Acute pancreatitis has not been previously reported in this syndrome.

Case report: This is a 28- years-old patient who was diagnosed to have Senior Loken syndrome at the age of 10 years because of renal impairment and tapetoretinal degeneration and was later started on regular hemodialysis. He had no family history of renal disease, hypertriglyceridemia or cholelithiasis. He presented to our center complaining of acute abdominal pain and vomiting. He had abdominal tenderness without guarding. Investigations revealed a lipase level of 3856 I U/l and an abdominal CT scan showed features of acute pancreatitis. The abdominal ultrasound showed no biliary tree malformations or gallstone obstruction. He had no history of recent drug intake or alcohol consumption and his serum triglyceride level was normal. A diagnosis of moderate acute pancreatitis was made and the patient was managed conservatively with good outcome.

Conclusion: Taking into consideration the uncertainty about the presence of liver fibrosis and the fact that imaging may have missed a passing gallstone, this case may indicate another rare systemic complication of Senior-Loken syndrome.