joubert syndrome with variable features: presentation of two cases

how to cite this article: barzegar m, malaki m, sadegi-hokmabadi e. joubert syndrome with variable features: presentation of two cases. iran j child neurol. 2013  spring;7(2):43-46.   abstract joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. we present two cases of this syndrome with different phenotypes. the first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. the second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign.   references 1. zamponi n, rossi b, messori a, polonara g, regnicolo l, cardinali c. joubert syndrome with associated corpus callosum agenesis. eur j paediatr neurol 2002;6(1):63-6. 2. ishikawa t, zhu bl, li dr, zhao d, michiue t, maeda h. an autopsy case of an infant with joubert syndrome who died unexpectedly and a review of the literature. forensic sci int 2008 aug 6;179(2-3):e67-73. 3. joubert syndrome foundation, 2003. available at http://www.joubertsyndrome.org. accessed february 19, 2003. 4. joubert m, eisenring jj, robb jp, andermann f. familial agenesis of the cerebellar vermis. a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. neurology 1969 sep;19(9):813-25. 5. maria bl, boltshauser e, palmer sc, tran tx. clinical features and revised diagnostic criteria in joubert syndrome. j child neurol 1999 sep;14(9):583-90; discussion 590-1. 6. badano jl, mitsuma n, beales pl, katsanis n. the ciliopathies: an emerging class of human genetic disorders. annu rev genomics hum genet 2006;7:125-48. review. 7. chance pf, cavalier l, satran d, pellegrino je, koenig m, dobyns wb. clinical nosologic and genetic aspects of joubert and related syndromes. j child neurol 1999 oct;14(10):660-6; discussion 669-72. review. 8. doherty d, glass ia, siebert jr, strouse pj, parisi ma, shaw dw, et al. prenatal diagnosis in pregnancies at risk for joubert syndrome by ultrasound and mri. prenat diagn 2005 jun;25(6):442-7. review. 9. brancati f, dallapiccola b, valente em. joubert syndrome and related disorders. orphanet j rare dis 2010 jul 8;5:20. doi: 10.1186/1750-1172-5-20. review. 10. brancati f, barrano g, silhavy jl, marsh se, travaglini l, bielas sl, et al. cep290 mutations are frequently identified in the oculo-renal form of joubert syndromerelated disorders. am j hum genet 2007 jul;81(1):104-13. 11. salomon r, saunier s, niaudet p. nephronophthisis. pediatr nephrol 2009 dec;24(12):2333-44. 12. ferland rj, eyaid w, collura rv, tully ld, hill rs, al-nouri d, et al. abnormal cerebellar development and axonal decussation due to mutations in ahi1 in joubert syndrome. nat genet 2004 sep;36(9):1008-13. 13. joubert m, eisenring jj, andermann f. familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. neurology 1968 mar;18(3):302-3. 14. boltshauser e, herdan m, dumermuth g, isler w. joubert syndrome: clinical and polygraphic observations in a further case. neuropediatrics 1981 may;12(2):181-9.