HAC (Russian)
RSCI (Russian)
Ulrichsweb (Ulrich’s Periodicals Directory)
Scientific Indexing Services

Alagille syndrome

DOI: https://doi.org/10.29296/25877305-2020-08-10

M. Gadzhimuradov, MD; M. Alieva; G. Mamasheva, Candidate of Medical Sciences Dagestan State
Medical University, Makhachkala

Alagille syndrome (AS) is a rare multisystem autosomal dominant hereditary disease. It may be identified on the basis of a number of clinical signs: cholestasis, heart disease, skeletal abnormalities, typical facial appearance, and eyeball abnormalities. AS is accompanied by growth retardation and delayed physical development. Obvious hypoplasia of the intrahepatic bile ducts is noted; defects of the liver can cause its end-stage disease that needs transplantation. Most of fatal AS cases are due to cardiovascular diseases: injury of the pulmonary artery, its branches (more commonly stenosis) and valve; directly that of the heart (tetralogy of Fallot, ventricular and atrial septal defects, aortic stenosis and coarctation); cerebrovascular diseases (cerebral aneurysms, arteriopathy, dolichoectasia, moya-moya disease). Bone abnormalities are common in AS; these are butterfly vertebrae, vertebral fusion, hemivertebrae, intercostal joints, shortened fingers, a convex forehead, moderate hypertelorism with deep-set eyes, a saddle-shaped or straight nose with a flattened-convex tip and large ears. AS is also manifested by severe growth retardation, chronic exhaustion, and sometimes moderate mental retardation. Specific therapy for AS has not been developed. The paper describes clinical cases (an 11-year-old boy and his 5-year-old sister). The children complained of obvious itching, dry and tightened skin; AS was manifested by a complete set of the above clinical signs with delayed mental and physical development. Only a few years later, the specialists from regional and federal clinics of Russia diagnosed AS on the basis of a set of symptoms. The authors note that both patients have a number of clinical manifestations that may be signs of AS, such as talipes valgus; funnel-shaped deformation of the chest; ichthyosiform lesions of the axillary regions; watch-glass nails; thinning and brittle hair.

Alagille syndrome
review of literature
case report

  1. Nazarenko L.P. Federal'nye klinicheskie rekomendatsii po diagnostike i lecheniju sindroma Alazhilja. M., 2015; 25 [NazarenkoL.P. Federal’nye klinicheskie rekomendacii po diagnostike i lecheniyu sindroma Alazhilya. M., 2015; 25 (in Russ.)].
  2. Krantz I., Piccoli D., Spinner N. Alagille syndrome. J Med Genet. 1997; 34 (2): 152–7. DOI:10.1136/jmg.34.2.152
  3. Omel'chenko E.V., Ermolaev M.N., Senatorova A.S. Arteriopechenochnaja displazija (Sindrom Alazhilja) u rebenka (klinicheskoe nabljudenie). Zdorovja ditini. Tematicheskij vypusk «Ditjama gastroenterologija». 2015; 62: 128–32 [Omel’chenko E.V., Ermolaev M.N., Senatorova A.S. Arteriopechenochnaya displaziya (Sindrom Alazhilya) u rebenka (klinicheskoe nablyudenie). Zdorovya ditini. Tematicheskij vypusk «Dityama gastroenterologiya» (Ukraina Journal). 2015; 62: 128–32 (in Ukrainian)].
  4. Djagtereva A.V., Bolmasova A.V., Filippova E.A. i dr. Fizicheskoe razvitie rebenka s sindromom Alazhilja do i posle transplantatsii pecheni. Voprosy prakticheskoj pediatrii. 2018; 13 (2): 64–9 [Degtyaryova A.V., Bolmasova A.V., Filippova E.A. et al. Physical development of a child with Alagille syndrome before and after liver transplantation. Voprosy prakticheskoj pediatrii. 2018; 13 (2): 64–9 (in Russ.)]. DOI: 10.20953/1817-7646-2018-2-64-69
  5. Gorjachova L.P., Shilova I.V., Rogozina N.V. i dr. Sindrom Alazhilja v klinicheskoj praktike. Zhurnal infektologii. 2013; 5 (4): 72–6 [Goryacheva L.G., Shilova I.V., Rogozina N.V. et al. Syndrome Alazhillya in clinical practice. Zhurnal infektologii. 2013; 5 (4): 72–6 (in Russ.)].
  6. Benabed Y., Chaillou E., Denis M. et al. Alagille syndrome: a case report. Ann Biol Clin (Paris). 2018; 76 (6): 675–80. DOI: 10.1684/abc.2018.1399
  7. Mitchell E., Gilbert M., Loomes K. Alagille Syndrome. Clin Liver Dis. 2018; 22 (4): 625–41. DOI: 10.1016/j.cld.2018.06.001
  8. Carpenter C., Linscott L., Leach J. et al. Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome. Pediatr Radiol. 2018; 48 (4): 602–8. DOI: 10.1007/s00247-017-4043-2
  9. Ho D., Levin A., Anninger W. et al. Anterior Chamber Pathology in Alagille Syndrome. Ocul Oncol Pathol. 2016; 2 (4): 270–5. DOI: 10.1159/000446804
  10. Kim J., Yang B., Paik N. et al. A case of Alagille syndrome presenting with chronic cholestasis in an adult. Clin Mol Hepatol. 2017; 23 (3): 260–4. DOI: 10.3350/cmh.2016.0057
  11. Di Pinto D., Adragna M. Renal manifestations in children with Alagille syndrome. Arch Argent Pediatr. 2018; 116 (2): 149–53. DOI: 10.5546/aap.2018.eng.149
  12. Berniczei-Royko A., Chałas R., Mitura I. et al. Medical and dental management of Alagille syndrome: a review. Med Sci Monit. 2014; 20: 476–80. DOI: 10.12659/MSM.890577