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Published online June 10, 2008
Diabetes Care 31:1738-1740, 2008
DOI: 10.2337/dc07-2217
© 2008 by the American Diabetes Association
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Clinical Care/Education/Nutrition/Psychosocial Research
Original Research

Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations

Mette Vesterhus, MD1,2, Helge Ræder, MD, PHD1,2, Harald Aurlien, MD3, Clara G. Gjesdal, MD, PHD4, Cecilie Bredrup, MD5, Pål I. Holm, MD4, Anders Molven, PHD6, Laurence Bindoff, MD, PHD1,3, Arnold Berstad, MD, PHD4 and Pål R. Njølstad, MD, PHD1,2

1 Department of Clinical Medicine, University of Bergen, Bergen, Norway
2 Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
3 Department of Neurology, Haukeland University Hospital, Bergen, Norway
4 Institute of Medicine, University of Bergen, Bergen, Norway
5 Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway
6 Gade Institute, University of Bergen, Bergen, Norway

Corresponding author: Pål R. Njølstad, pal.njolstad{at}uib.no

OBJECTIVE—To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy.

RESEARCH DESIGN AND METHODS—Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months.

RESULTS—Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common.

CONCLUSIONS—Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized vitamin E levels. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology.


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