Alström Syndrome with Acute Pancreatitis: A Case Report
Open Access
- 20 July 2003
- journal article
- case report
- Published by Wiley in The Kaohsiung Journal of Medical Sciences
- Vol. 19 (7) , 358-360
- https://doi.org/10.1016/s1607-551x(09)70438-3
Abstract
We report the case of a 21‐year‐old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone‐rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia, compatible with the clinical diagnosis of Alström syndrome. Serial examinations showed liver dysfunction and pancreatitis. In treating a patient with poor communication (i.e. cone‐rod dystrophy and hearing impairment) suffering from acute illness, understanding the underlying disease and the potential for pancreatitis with hypertriglyceridemia is necessary. It is also a challenge to treat a patient with multiple system involvement. In conclusion, Alström syndrome is a disease of systemic multi‐organ involvement, and hepatic disease and pancreatitis, possibly due to dyslipidemia, appear to be manifestations of Alström syndrome.Keywords
This publication has 9 references indexed in Scilit:
- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndromeNature Genetics, 2002
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeNature Genetics, 2002
- Early-onset liver disease complicated with acute liver failure in Alstrom syndrome.American Journal of Medical Genetics, 2001
- The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneityJournal of Medical Genetics, 2000
- Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional familiesAmerican Journal of Medical Genetics, 1997
- Hepatic dysfunction in two sibs with Alström syndrome: Case report and review of the literatureAmerican Journal of Medical Genetics, 1997
- Acute pancreatitis: value of CT in establishing prognosis.Radiology, 1990
- REPORT OF THREE CASES WITH FURTHER DELINEATION OF THE CLINICAL, PATHOPHYSIOLOGICAL, AND GENETIC ASPECTS FO THE DISORDERMedicine, 1973