Liver Cirrhosis in Woman with Ciliopathy Syndrome

Syifa Mustika, Dian Hasanah


Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis. This study aimed to describe a unique case of liver cirrhosis with possible aetiology of ciliopathy syndrome. A 44 year-old woman with chief complain of hematemesis had diabetes mellitus, obesity, dyslipidaemia, amenorrhoea and often became unconscious. We found short stature, brachydactyly, hyperpigmented maculae in trunk and four limbs, and hepatosplenomegaly. The laboratory results showed: haemoglobin 7.4 g/dl; albumin 2.42 g/dl; urea 84.8 mg/dl; creatinine 2.4 mg/dl; prolactin 138.8 ng/ml, while HBsAg was negative and anti-HCV was non-reactive. Abdominal ultrasonography showed liver cirrhosis; endoscopy showed grade 3 oesophageal varicose; FibroScan showed 75 kPa; liver biopsy showed hydropic degeneration and cirrhosis; and head CT scan showed chronic lacunar infarction of corona radiata and mega cisterna magna occipital. We reported female with oesophageal varicose rupture, short stature, brachydactyly, obesity, diabetes mellitus, dyslipidaemia, hyperpigmented maculae, liver cirrhosis and mega cisterna magna, which was likely to suffer from ciliopathy syndrome.


short stature; brachydactyly; insulin resistance; cirrhosis; ciliopathy


Scorza M, Elce A, Zarrilli F, et al. Genetic Diseases That Predispose to Early Liver Cirrhosis. Int J Hepatol. 2014;2014:1-11.

Schuppan D, Afdhal N. Liver Cirrhosis. The Lancet. 2008;371(9615):838-51.

Mahiuddin Ahammed SK. Cryptogenic cirrhosis and NASH: Entities in evolution and involution. Trop Gastroenterol. 2014;35(2):65-70.

Mercado-Irizarry A, Torres E. Cryptogenic cirrhosis: Current knowledge and future directions. Clinical Liver Disease. 2016;7(4):69-72.

Brunt E. Histopathology of nonalcoholic fatty liver disease. World J Gastroenterol. 2010;16(42):5286-96.

Chalasani N, Younossi Z, Lavine J, et al. The diagnosis and management of non-alcoholic fatty liver disease: Practice Guideline by the American Gastroenterological Association, American Association for the Study of Liver Diseases, and American College of Gastroenterology. Gastroenterol. 2012;142(7):1592-609.

Larter C, Chitturi S, Heydet D, et al. A fresh look at NASH pathogenesis. Part 1: The metabolic movers. J Gastroenterol Hepatol. 2010;25(4):672-90.

Leite A, Mattos A, Mattos A, et al. Risk factors for nonalcoholic steatohepatitis in cryptogenic cirrhosis. Arq Gastroenterol. 2012;49(4):245-9.

Neuschwander-Tetri B. Nonalcoholic steatohepatitis and the metabolic syndrome. Am J Med Sci. 2005;330(6):326-35.

Lee H, Song J, Jung J, et al. Primary cilia in energy balance signaling and metabolic disorder. BMB Reports. 2015;48(12):647-54.

Waters A, Beales P. Ciliopathies: An expanding disease spectrum. Pediatr Nephrol. 2011;26(7):1039-56.

Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet, Part C, 2009;151C(4):296-306.

Johnson C. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet. 2003;40(5):311-9.

Omenetti A, Choi S, Michelotti G, et al. Hedgehog signaling in the liver. J Hepatol. 2011;54(2):366-73.

Barkovich A. Developmental disorders of the midbrain and hindbrain. Front Neuroanat. 2012;6:1-10.

Sung K-S, Song Y-J. Neurocutaneous melanosis in association with Dandy-Walker complex with extensive intracerebral and spinal cord involvement. J Korean Neurosurg Soc. 2014;56(1):61-5.

Arai M, Nosaka K, Kashihara K, et al. Neurocutaneous melanosis associated with Dandy—Walker malformation and a meningohydro-encephalocele. J Neurosurg Pediatr. 2004;100(5):501–5.

Chaloupka J, Wolf R, Varma P. Neurocutaneous melanosis with the Dandy-Walker malformation: A possible rare pathoetiologic association. Neuroradiology. 1996;38(5):486-9.

Full Text: PDF


  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.