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552
Abstracts
quadriplegia was due to a myopathic component (critical
illness myopathy) overlapping the pharmacologicallyinduced
neuromuscular transmission blockade, exacerbated
by the use of corticosteroids and the concomitant renal deficiency
and plasma acidosis. This blockade lasted longer,
however, than is usually reported in the literature.
FP-I-041
Role of genetic analysis in definition of nosological
diagnosis in pathology of peripheral motoneuron in
pediatric patients
L.G. Khachatrian, V.M. Studenikin
Division of Psychoneurology, Research Institute of Pediatrics,
Scientific Center of Child Health (Russian Academy of
Medical Sciences), Moscow, Russia
Background: Clinical features of spinal cord anterior horn
cell lesions Include palsy, hypotonia, reduced or absent
reflexes, muscular weakness and delay in motor milestones.
Aim: To determine the role of molecular genetic analyses in
nosological diagnostics of neuron pathology. Methods: Case
histories of 28 pediatric patients (aged 3–18 months) with
clinical Signs of spinal cord anterior horn lesions were
analysed. Diagnostic algorithm included electroneuromyography
(ENMG), CT and MRT scan of brain, molecular
genetic analysis. Results: All patients were divided into
two groups. There were 19 patients with SMA: 13 cases
with type 1 SMA (Werdnig-Hoffman disease), six cases
with intermediate type 2 (Fried-Emery disease). Group 2
consisted of nine patients with myelodysplasia. All patients
had the same clinical features and similar ENMG pattern, as
well (poor interference pattern, fibrillation potentials, F-
wave fall-out, and reduced M-reply amplitude). Twentyfour
percent of Group 2 patients had ventriculomegaly
according to MRT scan results. Typical deletion in chromosome
5 (locus 11.2–13.3 in survival motor neuron) were
revealed by molecular genetic method. Besides, in six most
acute cases with type 1 SMA defect of neuronal apoptosis
inhibitory protein was detected. Conclusion: Molecular
genetic analysis is indicated as necessary investigational
method in pathology of motoneuron. This technique allows
to establish the diagnosis reliably and also to determine the
prognosis and the extent of required treatment.
FP-J
Neuro-Oncology
FP-J-001
A rare case of primary diffuse leptomeningeal
gliomatosis in a child: presentation, imaging, and results
of temozolomide therapy
L. Dom a , E. Duval b , D. De Surgeloose c , I. Neetens d ,E.
Michiels b , P.P. De Deyn a
Departments of a Neurology and Child Neurology, b Paediatrics,
c Neuroradiology and d Pathology, Algemeen Ziekenhuis
Middelheim and Koningin Paola Kinderziekenhuis,
Antwerp, Belgium
We report the case of a 12-year old girl with diffuse leptomeningeal
gliomatosis. One year prior to admission she was
diagnosed elsewhere with communicating hydrocephalus
treated by ventriculo-peritoneal shunting. In the course of
the next year school results deteriorated and she presented
multiple episodes of headache, confusion and infantile behaviour
once associated with convulsions. She was admitted to
our hospital due to another of these episodes. Except for her
behaviour her neurological examination was normal. Urgent
CT scan of the brain showed stabilised hydrocephalus.
Cranial MRI showed multiple nodular hyper intensities on
the cerebellar and cerebral surface with minimal meningeal
contrast enhancement. Spinal MRI disclosed leptomeningeal
thickening and gadolinium enhancement from C1 to the
cauda. In addition there was a non-enhancing hypointense
lesion at C7. Analysis of CSF disclosed mononuclear pleocytosis
(13/mm 3 ), raised protein value (447 mg/dl), normal
glucose concentration and no oligoclonal bands. Cultures
and serological tests were negative. Biopsy of the cerebellar
arachnoidea and surface showed a grade 2 mixed astrocytic
and oligodendrocytic leptomeningeal gliomatosis compatible
with a diagnosis of diffuse leptomeningeal gliomatosis.
Diffuse leptomeningeal gliomatosis (DLG) is a rare condition
characterized by diffuse infiltration of the leptomeninges
by glioma. In primary DLG, there is no parenchymal tumour
of the brain or spinal cord. It is considered to arise from
heterotopic glial cells. About 25 cases have been reported
so far. It has to be differentiated from diffuse leptomeningeal
seeding from a parenchymal tumour. This may require postmortem
examination. In our case we considered the possibility
of a primary intraparenchymal spinal tumour at C7.
However the lesion is non-enhancing on spinal MRI which
is a strong argument against an intramedullary neoplasm.
Neuroimaging features in this case are furthermore remarkable
for the absence of intracranial gadolinium enhancement
and the nodular lesions on the cerebellar surface. These characteristics
have only been described once by S. Kastenbauer
et al. Therapy was initiated with vincristine and carboplatin.
Despite this, her condition deteriorated and repeat cranial and
spinal MRI disclosed progression of the disease. Her therapy
was switched to temozolomide in November 2001. Results of
this therapeutic follow-up will be presented. To my knowledge
it is the first case of primary diffuse leptomeningeal
gliomatosis in childhood treated with temozolomide.
FP-J-002
EEG in diagnosing childhood brain tumor – do we still
need it?
I. Prpić, E. Paučić-Kirinčić, A. Sasso
University Children Hospital ‘Kantrida’ and Medical
Faculty of University of Rijeka, Rijeka, Croatia