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Preservation of Language in the Ataxic Infant in a Case of Cerebellar Agenesis

Published online by Cambridge University Press:  02 December 2014

Francois Dominique Jacob  and
Helly R. Goez
Francois Dominique Jacob
Affiliation:
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada
Helly R. Goez*
Affiliation:
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada
*
Division of Pediatric Neurology, Department of Pediatrics, Stollery Children's Hospital, #7319A Aberhart Centre 1, 11402 University Ave NW, Edmonton, Alberta, T6G 2J3, Canada
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An eight-month-old male Caucasian infant presented with ataxia and titubations, which had been noticed shortly after birth. He was born to healthy non-consanguineous parents after an unremarkable pregnancy. There was no maternal use of drugs, alcohol or tobacco. A prenatal ultrasound at 36 weeks conceptual age (performed at the request of the parents since the 20 week ultrasound had not been performed) revealed an enlarged posterior fossa, no cerebellar tissue, a normal corpus callosum and no evidence of hydrocephalus. He was delivered via spontaneous vaginal delivery at 37 weeks gestation without complications. Birth weight was 3630g and the neonatal course was unremarkable. Developmentally, at eight months-of-age he could not sit. A formal developmental assessment at 19 months-of-age revealed gross and fine motor delay. He was pulling to stand and was cruising but was not walking independently. He was able to stack two cubes. He was very social, highly imitative and used over 50 words. His words were clear and there was no dysarthria. His receptive and expressive language skills were deemed to be at the 18-21 month level. Family history was non-contributory. Physical examination at 19 months-of-age revealed weight and height between the 10-25 percentiles and head circumference at the 25th percentile. Head titubation was present throughout the examination. Extraocular movements were full, with bilateral intermittent esotropia. Upon fixing of the head, horizontal nystagmus and saccadic intrusions on smooth pursuit exam were noted. Fundoscopic examination was normal. He had mild truncal hypotonia, with appropriate strength for his age.

Type
Neuroimaging Highlights
Information
Canadian Journal of Neurological Sciences , Volume 38 , Issue 1 , January 2011 , pp. 143 - 144
Copyright
Copyright © Canadian Neurological Sciences Federation 2011

References

1 Sener, RN. Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation. Comput Med Imaging Graph. 1995;19 (6):491–4.CrossRefGoogle ScholarPubMed
2 Combettes, M. Absence complète du cervelet, des pédoncules postérieurs et la protubérance cérébrale chez une jeune fille morte dans sa onzième année. Bulleté de la Société Anatomique de Paris. 1831(5):148–57.Google Scholar
3 Riccardi, VM, Marcus, ES. Congenital hydrocephalus and cerebellar agenesis. Clin Genet. 1978;13(5):443–7.CrossRefGoogle ScholarPubMed
4 Hoveyda, N, Shield, JP, Garrett, C, et al. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. J Med Genet. 1999;36(9):700–4.Google ScholarPubMed
5 Timmann, D, Dimitrova, A, Hein-Kropp, C, Wilhelm, H, Dorfler, A. Cerebellar agenesis: clinical, neuropsychological and MR findings. Neurocase. 2003;9(5):402–13.CrossRefGoogle ScholarPubMed
6 Velioglu, SK, Kuzeyli, K, Zzmenoglu, M. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature. Eur J Neurol. 1998;5(5):503–6.CrossRefGoogle Scholar
7 Gupta, A, Malik, GK, Gupta, A, Saksena, S, Gupta, RK. MR demonstration of complete cerebellar and corpus callosum agenesis. Pediatr Neurosurg. 2007;43(1):29–31.CrossRefGoogle ScholarPubMed
8 Leech, RW, Johnson, SH, Brumback, RA. Agenesis of cerebellum associated with arrhinencephaly. Clin Neuropathol. 1997;16(2): 90–7.Google ScholarPubMed
9 Titomanlio, L, Romano, A, Del Giudice, E. Cerebellar agenesis. Neurology. 2005;64(6):E21.CrossRefGoogle ScholarPubMed
10 Tutak, E, Satar, M, Yapicioglu, H, et al. A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. Genet Couns. 2009;20(2):147–52.Google ScholarPubMed
11 Van Coster, RN, De Praeter, CM, Vanhaesebrouck, PJ, Leroy, JG. MRI findings in a neonate with cerebellar agenesis. Pediatr Neurol. 1998;19(2):139–42.CrossRefGoogle Scholar
12 Zafeiriou, DI, Vargiami, E, Boltshauser, E. Cerebellar agenesis and diabetes insipidus. Neuropediatrics. 2004;35(6):364–7.CrossRefGoogle ScholarPubMed
13 Glickstein, M. Cerebellar agenesis. Brain. 1994;117(Pt 5):1209–12.CrossRefGoogle ScholarPubMed
14 Leestma, JE, Torres, JV. Unappreciated agenesis of cerebellum in an adult: case report of a 38-year-old man. Am J Forensic Med Pathol. 2000;21(2):155–61.CrossRefGoogle Scholar
15 Boyd, CA. Cerebellar agenesis revisited. Brain. 2010;133(Pt 3): 941–4.CrossRefGoogle ScholarPubMed
16 Steinlin, M. Cerebellar disorders in childhood: cognitive problems. Cerebellum. 2008;7(4):607–10.CrossRefGoogle ScholarPubMed
17 Frank, B, Schoch, B, Richter, S, Frings, M, Karnath, HO, Timmann, D. Cerebellar lesion studies of cognitive function in children and adolescents - limitations and negative findings. Cerebellum. 2007;6(3):242–53.CrossRefGoogle ScholarPubMed