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there is no causal therapy only symptomatic interventions
(physiotherapy, baclofen and tizanidine) were possible.
Conclusion: Canavan’s disease is very rare in non-Jewish
caucasion popupulation. In children with macrocephaly, severe
developmental delay and increasing spasticity the diagnosis is
made by MRI and metabolic investigations (NAA peak in the
white matter). Mutation analysis can show novel mutations of the
ASPA gene particularly in patients with non-Jewish ancestry.
57
Cerebellar clefts: confirmation of the neuroimaging
pattern
A. Poretti 1 , TAGM Huisman 2 , F.M. Cowan 3 , E. Del Giudice 4 ,
P.Y. Jeannet 5 , D. Prayer 1 , M.A. Rutherford 3 , A.J. du Plessis 7 ,
C. Limperopoulos 8 , E. Boltshauser 1
1
Department of Pediatric Neurology, University Children’s
Hospital, Zürich, Switzerland, 2 Division of Pediatric Radiology,
Russell H. Morgan Department of Radiology and Radiological
Science, The Johns Hopkins University School of Medicine,
Baltimore, United States, 3 Department of Paediatrics and
Imaging Sciences Department, MRC Clinical Sciences Centre,
Hammersmith Campus, Imperial College, London, United
Kingdom, 4 Section of Child Neuropsychiatry, Department of
Pediatrics, University “Federico II”, Naples, Italy, 5 Pediatric
Neurology and Neurorehabilitation Unit, Centre Hospitalier
Universitaire Vaudois, Lausanne, Switzerland, 6 Department
of Neuroradiology, Medical University, Vienna, Austria, 7 Fetal-
Neonatal Neurology Research Program, Department of
Neurology, Children’s Hospital Boston and Harvard Medical
School, Boston, United States, 8 Department of Neurology and
Neurosurgery, School of Physical and Occupational Therapy,
and Pediatrics, McGill University, Montreal, Canada
Introduction: In 2008 we described neuroimaging and clinical
findings in children with cerebellar clefts (Poretti A et al.,
Neuropediatrics, 2008) and proposed that these clefts represent
disruptive changes following prenatal cerebellar hemorrhage.
We now report an additional series expanding on our experience.
Methods: Analysis of clinical and neuroimaging findings of 9
patients with cerebellar cleft collected from multiple institutions.
Results: The clefts were located in the left cerebellar
hemisphere in 5 cases, in the right in 3, and bilaterally in one
child who had bilateral cerebellar hemorrhages as a preterm
at 30 weeks gestation. In one patient born at 24 weeks of
gestation a unilateral cerebellar hemorrhage has been found at
the age of 4 months. Other typical cerebellar findings included
disorderly alignment of the folia and fissures, irregular grey/
white matter junction, and abnormal arborisation of the white
matter in all cases. The cerebellar cleft extended into the fourth
ventricle in 3 cases. Supratentorial abnormalities (periventricular
nodular heterotopias, atretic occipital encephalocele, and
ventriculomegaly) were found in 4 cases. The 9 patients were
3 months to 12.4 years (mean: 4 years) old at the latest
follow-up. All but 2 patients were born at term. The early
postnatal course was unremarkable in all but 3 cases. Truncal
ataxia or expressive language delay were present in 4 patients,
oculomotor apraxia, muscular hypotonia, mild cognitive
impairment, or attention deficit hyperactivity disorder in 2,
and dysarthria in 1.
Conclusions: We confirm the neuroimaging pattern of cerebellar
clefts. The documented fetal cerebellar hemorrhage in our first
series, the uneventful perinatal history, and the neuroimaging
similarities with the previous reported cases argue for residual
disruptive changes after a prenatal cerebellar hemorrhage.
Exceptionally, as now documented in 2 patients, cerebellar
clefts can be found also after neonatal cerebellar hemorrhages
in preterm infants. The outcome in these children was variable
ranging from almost normal development to mild developmental
impairment and language and speech disorders.
58
Cerebral Sinus Venous Thrombosis in Swiss Children
S. Grunt 1 , K. Wingeier 1 , E. Wehrli 1 , E. Boltshauser 2 , A. Capone 3 ,
J. Fluss 4 , D. Gubser-Mercati 5 , P.Y. Jeannet 6 , E. Keller 7 ,
J.P. Marcoz 8 , T. Schmitt-Mechelke 9 , P. Weber 10 , M. Weissert 11 ,
M. Steinlin 1
1
Department of Neuropaediatrics, University Children’s
Hospital, Berne, Switzerland, 2 Department of Neuropaediatrics,
University Children’s Hospital, Zürich, Switzerland, 3 Department
of Neuropaediatrics, Children’s Hospital, Aarau, Switzerland,
4
Neuropaediatrics, Paediatric Subspecialties Service, University
Children’s Hospital, Genève, Switzerland, 5 Champreveyres 4,
Neuchâtel, Switzerland, 6 Department of Neuropaediatrics,
University Children’s Hospital, Lausanne, Switzerland,
7
Department of Neuropaediatrics, Children’s Hospital, Chur,
Switzerland, 8 Rue de Lausanne 20, Sion, Switzerland,
9
Department of Neuropaediatrics, Children’s Hospital, Luzern,
Switzerland, 10 Department of Neuropaediatrics, University
Children’s Hospital, Basel, Switzerland, 11 Department of
Neuropaediatrics, Children’s Hospital, St. Gallen, Switzerland
Aim: Describe the characteristics of paediatric cerebral sinus
venous thrombosis (CSVT) in Switzerland.
Methods: Data on clinical features, neuroimaging, risk factors
and treatment were collected for all children younger than
16 years old suffering from CSVT in Switzerland between
January 2000 and December 2008. A follow-up examination and
a cognitive assessment were performed. Differences between
neonates and children (patients older than 28 days) were
assessed, and predictors of outcome were determined.
Results: Sixty-five cases of CSVT were reported. The incidence
of paediatric CSVT in Switzerland was 0.558 per 100,000
per year. In neonates, the deep venous system was more
often involved and parenchymal injuries were more common.
Predictors of poor outcome were neonatal age (OR = 42.2;
p = 0.001), parenchymal injuries in neuroimaging (OR = 20;
p = 0.008) and the absence of anticoagulant treatment (OR =
12.6; p = 0.005). Most children showed global cognitive abilities
within the normal range, but impairments in single cognitive
subdomains were frequent.
Interpretation: Paediatric CSVT is rare. Its outcome is poor
in neonates. Most children have good neurological outcomes,
but some patients suffer from individual neuropsychological
impairments.
59
Congenital Myastheni – a treatable neuromuscular
disease
A. Klein 1 , D. Beeson 2 , M. Tröger 3 , St. Robb 4
1
Neuropädiatrie, Universitäts Kinderspital, Zürich, Switzerland,
2
Radcliffe Hospitals, Oxford, United Kingdom, 3 Kantonsspital,
Aarau, Switzerland, 4 Dubowitz Neuromuscular Centre, London,
United Kingdom
Introduction: Congenital myasthenic syndromes are
increasingly recognised as a differential diagnosis of congenital
myopathies. As most respond to medication and some may
lead to life threatening events this is an important differential
diagnosis.
Methods: Case report
Results: We report a 10 year old girl, born at term after an
uneventful pregnancy to non- consanguineous parents of Italian
origin. Two maternal cousins died at the age of less than a week
of a diaphragmatic hernia. First concerns were raised at the
age of a few months because of poor head control in the prone
position. She never crawled, bottom shuffled, walked at age
15 months. She was never able to run, had frequent falls and
difficulties getting up from the floor. At the age of 4 years she was
first investigated for a neuromuscular disease. On examination
she had proximal and axial weakness in the antigravity range,
no facial weakness and full eye movements. CK and lacate
were normal. Muscle biopsy showed mild variation of fibre
size, no signs of de- or regeneration, no increase of connective
tissue and normal immunohistochemistry. On further follow up,
she showed a slowly progressive weakness, predominantly
proximal but also distal and axial, a minimal facial weakness,
no ptosis or limitations of eye movements. Arm abduction and
elevation was in the MRC 3- range, all other muscle groups
were >MRC 3+. Muscle MRI of the thighs was normal. Because
of the discrepancy of marked weakness compared to the mild
findings on biopsy and on MRI a congenital myopathy seemed
unlikely. On further questioning she described fluctuations of the
weakness over weeks. Repeated Gowers manoeuvre showed
fatigability. Repetitive stimulation of the accessory nerve showed
a pathological decrement of 32%. Because the clinical findings
were suggestive for a mutation in the DOK7 gene, we started
salbutamol 3 x 2 mg. 2 weeks later she started to improve, which
continued over the following months. Functional measurements
showed a marked amelioration after 6 months. Molecular genetic
analysis of DOK7 confirmed a frequently reported duplication
c.1124_1127dupTGCC and mutation c.512G>A which has not
previously been reported.
Conclusion: Congenital myasthenia should be considered in the
differential diagnosis of myopathies, fluctuations and fatigability
are often less obvious than in autoimmune myasthenia.
Salbutamol is a good alternative to ephedrine with a good side
effect profile and is available in Switzerland.
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