A 6-year old Turkish boy with a recently defined entity: “leukoencephalopathy with
vanishing white matter” is described. He was born to consanguinous parents. His psychomotor
development was normal till he first presented with fever and generalized tonic-clonic
seizures at the age of 2.5, followed by rapid motor and mental deterioration. Decerebrate
posture and marked spasticity subsequently developed. The initial MRI examination
showed diffuse involvement of white matter, including subcortical U-fibers, with signal
intensity parallel to CSF on all sequences. The white matter appeared swollen. The
ventricles were slightly enlarged and there was cavum septi pellucidi et vergae. The
posterior crus of the internal capsule, external and extreme capsules were affected.
Cerebellar hemispheres and vermis showed atrophy. The involvement pattern of brainstem
was noteworthy in that pontine tegmentum and cruri cerebri were affected. Follow-up
MRI obtained after three years did not show any interval change. Brain biopsy showed
thinned cortex with relatively preserved cortical layering and neuronal structure.
There was rarefaction of the white matter with cystic degeneration. Fibrillary gliosis
and increased number of oligodendroglial cells were observed within the cerebral white
matter.
Key words
Vanishing white matter disease - Brain; white matter - Magnetic resonance imaging
- Demyelination
References
- 1
Aicardi J.
The inherited leukodystrophies: a clinical overview.
J Inher Metab Dis.
1993;
16
733-743
- 2
Hanefeld F, Holzbach U, Kruse B, Wilichowski E, Christen H J, Frahm J.
Diffuse white matter disease in three children: an encephalopathy with unique features
on magnetic resonance imaging and proton magnetic resonance spectroscopy.
Neuropediatrics.
1993;
24
244-248
- 3
Schiffmann R, Moller J R, Trapp B D, Shih H H, Farrer R G, Katz D A. et al .
Childhood ataxia with diffuse central nervous system hypomyelination.
Ann Neurol.
1994;
35
331-340
- 4
Topcu M, Saatci I, Topcuoglu M A, Kose G, Kunak B.
Megalencephaly and leukodystrophy with mild clinical course: a report on 12 cases.
Brain Dev.
1998;
20
142-153
- 5
van der Knaap M S, Barth P G, Stornik H, van Nieuwenhuizen O, Arts W FM. et al .
Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight
children.
Ann Neurol.
1995;
21
164-168
- 6
van der Knaap M S, Barth P G, Gabreëls F JM, Franzoni E, Begeer J H, Stroink H. et
al .
A new leukoencephalopathy with vanishing white matter.
Neurology.
1997;
48
845-855
- 7
van der Knaap M S, Kamphorst W, Barth P G, Kraaijeveld C L, Gut E, Valk J.
Phenotypic variation in leukoencephalopathy with vanishing white matter.
Neurology.
1998;
51
540-547
1 This study was supported by the Turkish Child Neurology Association.
Prof. Dr. Meral Topçu
Department of Child Neurology Hacettepe University
Sihhiye 06100 Ankara
Turkey
Email: E-mail: mtopcu@genetic.gen.hun.edu.tr