Horizontal head titubation in infants with Joubert syndrome: A new finding

Developmental Medicine and Child Neurology

Volumn 56, Issue 10, 2014, Pages 1016-1020

  Poretti, Andrea ^a,b   Christen, Hans Jürgen ^c   Elton, Lindsay E ^d   Baumgartner, Manuela ^e   Korenke, Georg Christoph ^f   Sukhudyan, Biayna ^g   Hethey, Sven ^c   Cross, Elizabeth ^d   Steinlin, Maja ^h   Boltshauser, Eugen ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Children's Hospital Auf der Bult   (Germany)

^d Pediatric Specialty Services   (United States)

^e Krankenhaus der Barmherzigen Schwestern Wien Betriebsgesellschaft   (Austria)

^f KLINIKUM OLDENBURG   (Germany)

^g Arabkir Institute of Child and Adolescent Health   (Armenia)

^h UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CEREBELLUM DISEASE; CHILD; COMPLICATION; EYE MALFORMATION; FEMALE; HEAD MOVEMENT; HUMAN; INFANT; KIDNEY POLYCYSTIC DISEASE; MALE; MOVEMENT DISORDERS; ONSET AGE; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; RETINA; RETROSPECTIVE STUDY;

ADOLESCENT; AGE OF ONSET; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; FEMALE; HEAD MOVEMENTS; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MOVEMENT DISORDERS; RETINA; RETROSPECTIVE STUDIES;

EID: 84908381441     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12489     Document Type: Article

References (25)

1. Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 2013; 12: 894-905.
2. Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E. Normal cognitive functions in Joubert syndrome. Neuropediatrics 2009; 40: 287-90.
3. Poretti A, Vitiello G, Hennekam RC, et al. Delineation and diagnostic criteria of oral-facial-digital syndrome type VI. Orphanet J Rare Dis 2012; 7: 4.
4. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011; 32: 1459-63.
5. Poretti A, Boltshauser E, Loenneker T, et al. Diffusion tensor imaging in Joubert syndrome. AJNR Am J Neuroradiol 2007; 28: 1929-33.
6. Khan AO, Oystreck DT, Seidahmed MZ, et al. Ophthalmic features of Joubert syndrome. Ophthalmology 2008; 115: 2286-9.
7. Sturm V, Leiba H, Menke MN, et al. Ophthalmological findings in Joubert syndrome. Eye (Lond) 2010; 24: 222-5.
8. Zee DS, Yee RD, Singer HS. Congenital ocular motor apraxia. Brain 1977; 100: 581-99.
9. Hottinger-Blanc PM, Ziegler AL, Deonna T. A special type of head stereotypies in children with developmental (?cerebellar) disorder: description of 8 cases and literature review. Eur J Paediatr Neurol 2002; 6: 143-52.
10. Harris KM, Mahone EM, Singer HS. Nonautistic motor stereotypies: clinical features and longitudinal follow-up. Pediatr Neurol 2008; 38: 267-72.
11. Marsh SE, Grattan-Smith P, Pereira J, Barkovich AJ, Gleeson JG. Neuroepithelial cysts in a patient with Joubert syndrome plus renal cysts. J Child Neurol 2004; 19: 227-31.
12. Singer HS. Stereotypic movement disorders. Handb Clin Neurol 2011; 100: 631-9.
13. Ehrt O. Infantile and acquired nystagmus in childhood. Eur J Paediatr Neurol 2012; 16: 567-72.
14. Gottlob I, Zubcov AA, Wizov SS, Reinecke RD. Head nodding is compensatory in spasmus nutans. Ophthalmology 1992; 99: 1024-31.
15. Poretti A, Alber FD, Burki S, Toelle SP, Boltshauser E. Cognitive outcome in children with rhombencephalosynapsis. Eur J Paediatr Neurol 2009; 13: 28-33.
16. Tully HM, Dempsey JC, Ishak GE, et al. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord 2013; 28: 2019-23.
17. Poretti A, Bartholdi D, Gobara S, Alber FD, Boltshauser E. Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. Eur J Med Genet 2008; 51: 197-208.
18. Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr 2010; 169: 1523-8.
19. Bhattacharyya KB, Senapati A, Basu S, Bhattacharya S, Ghosh S. Bobble-head doll syndrome: some atypical features with a new lesion and review of the literature. Acta Neurol Scand 2003; 108: 216-20.
20. Jan JE, Groenveld M, Connolly MB. Head shaking by visually impaired children: a voluntary neurovisual adaptation which can be confused with spasmus nutans. Dev Med Child Neurol 1990; 32: 1061-6.
21. Kanazawa O. Shuddering attacks-report of four children. Pediatr Neurol 2000; 23: 421-4.
22. Tibussek D, Karenfort M, Mayatepek E, Assmann B. Clinical reasoning: shuddering attacks in infancy. Neurology 2008; 70: e38-41.
23. Kim YO, Korff CM, Villaluz MM, et al. Head stereotypies in STXBP1 encephalopathy. Dev Med Child Neurol 2013; 55: 769-72.
24. O'Rourke DJ, Ryan S, King MD. Head bobbing due to succinic semialdehyde dehydrogenase deficiency. Neurology 2010; 74: 2025.
25. Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol 2003; 54 (Suppl. 6): S73-80.