Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis

Journal of Child Neurology

Volumn 27, Issue 7, 2012, Pages 938-941

  Vieira, José Pedro ^a   Lopes, Patricia ^a   Silva, Rita ^a  

^a Centro Hospitalar de Lisboa Central ^*  (Portugal)

Author keywords

Aqueductal stenosis; Hydrocephalus; Primary ciliary dyskinesia

Indexed keywords

ARTICLE; ATRIOVENTRICULAR BLOCK; BRAIN AQUEDUCT STENOSIS; CARDIOMEGALY; CASE REPORT; CILIARY DYSKINESIA; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; DEXTROCARDIA; ECHOCARDIOGRAPHY; FEMALE; FETUS ECHOGRAPHY; HUMAN; HYDROCEPHALUS; INFANT; NECROTIZING ENTEROCOLITIS; PRIORITY JOURNAL; SITUS INVERSUS;

CEREBRAL VENTRICLES; FEMALE; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; KARTAGENER SYNDROME; RESPIRATORY MUCOSA; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 84859073267     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811429856     Document Type: Article

References (23)

1. Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. 2007 ; 92 (12). 1136-1140 (Pubitemid 350221463)
2. Kosaki K, Ikeda K, Miyakoshi K, et al. Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality. Am J Med Genet A. 2004 ; 129A (3). 308-311 (Pubitemid 39166200)
3. De Santi MM, Magni A, Valletta EA, Gardi C, Lungarella G. Hydrocephalus, bronchiectasis, and ciliary aplasia. Arch Dis Child. 1990 ; 65 (5). 543-544 (Pubitemid 20151092)
4. Greenstone MA, Jones RW, Dewar A, Neville BG, Cole PJ. Hydrocephalus and primary ciliary dyskinesia. Arch Dis Child. 1984 ; 59 (5). 481-482 (Pubitemid 14105914)
5. al-Shroof M, Karnik AM, Karnik AA, Longshore J, Sliman NA, Khan FA. Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family. Mayo Clin Proc. 2001 ; 76 (12). 1219-1224 (Pubitemid 33117016)
6. Wessels MW, den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat Diagn. 2003 ; 23 (3). 239-242 (Pubitemid 36323686)
7. Picco P, Leveratto E, Cama A, et al. Immotile cilia syndrome associated with hydrocephalus and precocious puberty. Eur J Pediat Surg. 1993 ; 3 (suppl 1). 20-21 (Pubitemid 24030211)
8. Ibañez-Tallon I, Pagenstecher A, Fliegauf M, et al. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet. 2004 ; 13 (18). 2133-2141 (Pubitemid 39377835)
9. Páez P, Bátiz LF, Roales-Buján R, et al. Patterned neuropathologic events occurring in hyh congenital hydrocephalic mutant mice. J Neuropathol Exp Neurol. 2007 ; 66 (12). 1082-1092 (Pubitemid 350294658)
10. Bannister CM, Chapman SA. Ventricular ependyma of normal and hydrocephalic subjects: a scanning electron microscopic study. Dev Med Child Neurol. 1980 ; 22 (6). 725-735 (Pubitemid 11243258)
11. Lee L, Campagna DR, Pinkus JL, et al. Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol. 2008 ; 28 (3). 949-957 (Pubitemid 351160051)
12. Lechtreck KF, Delmotte P, Robinson ML, et al. Mutations in Hydin impair ciliary motility in mice. J Cell Biol. 2008 ; 180 (3). 633-643 (Pubitemid 351240709)
13. Persson EK, Hagberg G. Hydrocephalus prevalence and outcome in a population-based cohort of children born in 1989-1998. Acta Paediatr. 2005 ; 94 (6). 726-732 (Pubitemid 40839802)
14. Garne E, Loane M, Addor MC, et al. Congenital hydrocephalus-prevalence, prenatal diagnosis and outcome of pregnancy in four European regions. Eur J Paediatr Neurol. 2010 ; 14 (2). 150-155
15. Mealey J, Gilmor RL, Bubb MP. The prognosis of hydrocephalus overt at birth. J Neurosurg. 1973 ; 39 (3). 348-355
16. McCullough DC, Balzer-Martin LA. Current prognosis in overt neonatal hydrocephalus. J Neurosurg. 1982 ; 57 (3). 378-383 (Pubitemid 12055629)
17. Zhang J, Williams MA, Rigamonti D. Genetics of human hydrocephalus. J Neurol. 2006 ; 253 (10). 1255-1266 (Pubitemid 44691549)
18. Castro-Gago M, Alonso A. Eirís-Puñal J Autosomal recessive hydrocephalus with aqueductal stenosis. Childs Nerv Syst. 1996 ; 12 (4). 188-191 (Pubitemid 26156767)
19. Lapunzina P, Delicado A, de Torres ML, Mor MA, Pérez-Pacheco RF, Lópes PI. Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling. J Matern Fetal Neonatal Med. 2002 ; 12 (1). 64-66 (Pubitemid 34848431)
20. Hamada H, Watanabe H, Sugimoto M, Yasuoka M, Yamada N, Kubo T. Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of Sylvius. Prenat Diagn. 1999 ; 19 (11). 1067-1069
21. Verhagen WI, Bartels RH, Fransen E, van Camp G, Renier WO, Grotenhuis JA. Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression. J Neurol Sci. 1998 ; 158 (1). 101-105 (Pubitemid 28277543)
22. Al-Anazi AR. Adult onset hydrocephalus and situs inversus: new autosomal dominant syndrome?. Br J Neurosurg. 2003 ; 17 (3). 263-266 (Pubitemid 37100493)
23. Laskin MD, Kingdom J, Toi A, Chitayat D, Ohlsson A. Perinatal and neurodevelopmental outcome with isolated fetal ventriculomegaly: a systematic review. J Matern Fetal Neonatal Med. 2005 ; 18 (5). 289-298 (Pubitemid 43062375)