Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts

R. Biancheri, C. Pisaturo, M. V. Perrone, A. Pessagno, A. Rossi, E. Veneselli

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Leukoencephalopathy with swelling and a discrepantly mild clinical course ("van der Knaap disease") is a recently identified syndrome. It is characterized 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).

Original languageEnglish
Pages (from-to)321-324
Number of pages4
JournalNeuropediatrics
Volume31
Issue number6
DOIs
Publication statusPublished - 2000

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Megalencephaly
Cysts
Siblings
Leukoencephalopathies
Ataxia
Parents
Megalencephalic leukoencephalopathy with subcortical cysts

Keywords

  • Leukoencephalopathy
  • Megalencephaly
  • Mild clinical course
  • White matter swelling

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts. / Biancheri, R.; Pisaturo, C.; Perrone, M. V.; Pessagno, A.; Rossi, A.; Veneselli, E.

In: Neuropediatrics, Vol. 31, No. 6, 2000, p. 321-324.

Research output: Contribution to journalArticle

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AU - Rossi, A.

AU - Veneselli, E.

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