Neuropediatrics 2000; 31(6): 321-324
DOI: 10.1055/s-2000-12949
Short Communication

Georg Thieme Verlag Stuttgart · New York

Presence of Delayed Myelination and Macrocephaly in the Sister of a Patient with Vacuolating Leukoencephalopathy with Subcortical Cysts

Roberta Biancheri1 , C. Pisaturo1 , M. V. Perrone1 , A. Pessagno1 , A. Rossi2 , E. Veneselli1
  • 1 Child Neuropsychiatry Unit, Department of Neuroscience, G. Gaslini Institute, University of Genoa, Italy
  • 2 Department of Paediatric Neuroradiology, G. Gaslini Institute, University of Genoa, Italy
Further Information

Publication History

Publication Date:
31 December 2000 (online)

Leukoencephalopathy with swelling and a discrepantly mild clinical course (“van der Knaap disease”) is a recently identified syndrome. It is characterised by macrocephaly occurring during the first year of life, initially normal or nearly normal development, and slowly progressive ataxia and spasticity with initial preservation of intellectual functions. MRI shows diffuse abnormality in signal intensity, as well as swelling of the hemispheral white matter with subcortical cyst-like spaces in the fronto-parietal and anterior temporal areas. It is thought to have an autosomal recessive mode of inheritance, since many patients have consanguineous parents and more than one affected patient is often present within the same family. We report on two sibs: a 5-year old boy affected with “van der Knaap disease” and his macrocephalic sister whose first MRI (2 years 6 months) showed delayed myelination, which led us to suspect the same disease as her brother, however with subsequent normalisation at the second MRI (3 years 6 months).

References

  • 1 Bešenski N, Bošnjak V, Cop S, Pavic D, Mikulic D, Oršolic K. Neuroimaging and clinically distinctive features in van der Knaap megalencephalic leukoencephalopathy.  Int J Neuroradiol. 1997;  3 244-249
  • 2 Goutières F, Boulloche J, Bourgeois M, Aicardi J. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five cases.  J Child Neurol. 1996;  11 439-444
  • 3 Koeda T, Takeshita K. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy.  Brain Dev. 1998;  20 245-249
  • 4 Matthieu J M. An introduction to the molecular basis of inherited myelin diseases.  J Inher Metab Dis. 1993;  16 724-732
  • 5 Mejaski-Bosnjak V, Bešenski N. Megalencephalic leukoencephalopathy: a further case of a new neurodegenerative white matter disease.  Dev Med Child Neurol. 1997;  39 561-563
  • 6 Parazzini C, Baldoli C, Bianchini E, Scotti G, Triulzi F. Terminal zones of myelination - MR evaluation of children between 20 and 40 months of age (Abstr.). Proceedings of the American Society of Neuroradiology. Atlanta (USA), 3 - 8 April. 2000: 176
  • 7 Thelle T, Baslev T, Christensen T. Van der Knaap's vacuolating leukoencephalopathy: two additional cases.  Europ J Paediatr Neurol. 1999;  3 83-86
  • 8 van der Knaap M S, Valk J. Magnetic Resonance of Myelin, Myelination and Myelination Disorders. Berlin; Springer-Verlag 1995
  • 9 van der Knaap M S, Valk J, Barth P G, Smit L ME, van Engelen B GM, Tortori Donati,  P. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis.  Neuroradiology. 1995;  37 670-686
  • 10 van der Knaap M S, Barth P G, Stroink H, van Nieuwenhuizen O, Arts W FM, Hoogenraad F, Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.  Ann Neurol. 1995;  37 324-334

Dott. ssa Roberta Biancheri

Divisione e Cattedra di Neuropsichiatria Infantile
Dipartimento di Scienze Neurologiche e di Neuroriabilitazione
Istituto G. Gaslini

Largo G. Gaslini 5

16147 Genova

Italy

Email: roberta.biancheri@tin.it