Neuropediatrics 2001; 32(2): 62-68
DOI: 10.1055/s-2001-13882
Original Article

Georg Thieme Verlag Stuttgart · New York

Near-Total Absence of the Cerebellum

R. J. M. Gardner1 , L. T. Coleman2 , L. A. Mitchell2,3 , L. J. Smith4 , A. S. Harvey4 , I. E. Scheffer4,5 , E. Storey6 , M. J. Nowotny7 , R. A. Sloane8 , L. Lubitz8
  • 1 Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia
  • 2 Department of Radiology, Royal Children's Hospital, Melbourne, Australia
  • 3 Department of Radiology, Austin and Repatriation Centre, Melbourne, Australia
  • 4 Department of Neurology, Royal Children's Hospital, Melbourne, Australia
  • 5 Department of Neurology, Austin and Repatriation Centre, Melbourne, Australia
  • 6 Department of Neurosciences, Monash University (Alfred Hospital Campus), Melbourne, Australia
  • 7 Department of Pediatrics, Warragul Hospital, Warragul, Australia
  • 8 Department of Pediatrics, Royal Children's Hospital, Melbourne, Australia
Further Information

Publication History

Publication Date:
31 December 2001 (online)

We report five cases of near-total absence of the cerebellum with accompanying pontine hypoplasia. The cerebellar remnant in each case comprised only antero-superior masses, the posterior fossa being otherwise fluid filled. Three of these patients, two teenagers and an infant, presented a fairly consistent clinical and neuroradiological phenotype, and a few similar cases are recorded in the literature. The cerebellar remnant was irregular and asymmetrical, and no ventral pontine prominence was discernible. In at least the older two, cerebellar motor functions were not greatly compromised, and intellectual handicap was of a mild degree. We propose that these cases represent a distinct entity of “near-total absence of the cerebellum with flat ventral pons, and relatively mild clinical affection”. All cases have been sporadic, implying that the risk of recurrence within a family may be low. Quite different clinical pictures, of considerably greater severity, are demonstrated in the remaining two cases. One had pontocerebellar hypoplasia type 2, while the other had a complex cerebellar and cerebral malformation.

References

  • 1 Aicardi J. Diseases of the Nervous System in Childhood. 2nd ed. London; Mac Keith Press 1998
  • 2 Antoun H, Villeneuve N, Gelot A, Panisset S, Adamsbaum C. Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1.  Pediatr Radiol. 1999;  29 194-198
  • 3 Barth P G. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.  Brain Dev. 1993;  15 411-422
  • 4 Barth P G, Blennow G, Lenard H G. et al . The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.  Neurology. 1995;  45 311-317
  • 6 Glickstein M. Cerebellar agenesis.  Brain. 1994;  117 1209-1212
  • 7 Macchi G, Bentivoglio M. Agenesis or hypoplasia of cerebellar structures.  Handbook of Clinical Neurology. 1987;  6 175-184
  • 8 Millen K J, Millonig J H, Wingate R JT, Alder J, Hatten M E. Neurogenetics of the cerebellar system.  J Child Neurol. 1999;  14 574-582
  • 9 Norman M G, McGillivray B C, Kalousek D K, Hill A, Poskitt K J. Congenital Malformations of the Brain. New York; Oxford University Press 1995
  • 10 Ramaekers V T. Cerebellar malformations. Klockgether T Handbook of Ataxia Disorders. New York; Marcel Dekker 2000: 115-150
  • 11 Ramaekers V T, Heimann G, Reul J, Thron A, Jaeken J. Genetic disorders and cerebellar structural abnormalities in childhood.  Brain. 1997;  120 1739-1751
  • 12 Robins J B, Mason G C, Watters J, Martinez D. Case report: cerebellar hemi-hypoplasia.  Prenat Diagn. 1998;  18 173-177
  • 13 Sener R N. Cerebellar agenesis versus vanishing cerebellum in Chiari II malformation.  Comput Med Imaging Graph. 1995;  19 491-494
  • 14 Sener R N, Jinkins J R. Subtotal agenesis of the cerebellum in an adult. MRI demonstration.  Neuroradiol. 1993;  35 286-287
  • 15 Uhl M, Pawlik H, Laubenberger J. et al . MR findings in pontocerebellar hypoplasia.  Pediatr Radiol. 1998;  28 547-551
  • 16 Van Hoof S C, Wilmink J T. Cerebellar agenesis.  J Belge Radiol. 1996;  79 282
  • 17 Velioğlu S K, Kuzeyli K, Özmenoğlu M. Cerebellar agenesis: a case report with clinical and MR imaging findings and a review of the literature.  Eur J Neurol. 1998;  5 503-506

Dr. R. J. M. Gardner

Victorian Clinical Genetics Services Royal Children's Hospital

Flemington Road

Melbourne

Australia 3052

Email: gardner@cryptic.rch.unimelb.edu.au