Canavan disease: a novel mutation.

Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.

Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies.

AIM: The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology. METHOD: Clinical and neuroimaging (acute and follow-up) findings were analysed prospectively in 79 children (48 males, 31 females) aged 2 months to 15 years 8 months (median 5 y 3 mo) at the time of stroke by the Swiss Neuropaediatric Stroke Registry from 2000 to 2006. RESULTS: Stroke was confirmed in the acute period in 36 out of 41 children who underwent computed tomography, in 53 of 57 who underwent T2-weighted magnetic resonance imaging (MRI) and in all 48 children who underwent diffusion-weighted MRI. AIS occurred in the anterior cerebral artery (ACA) in 63 participants and in all cases was associated with lesions of the middle cerebral artery (MCA). The lesion was cortical-subcortical in 30 out of 63 children, cortical in 25 out of 63, and subcortical in 8 of 63 children. Among participants with AIS in the posterior circulation territory, the stroke was cortical-subcortical in 8 out of 16, cortical in 5 of 16, and thalamic in 3 out of 16 children. INTERPRETATION: AIS mainly involves the anterior circulation territory, with both the ACA and the MCA being affected. The classification of Ganesan is an appropriate population-based classification for our Swiss cohort, but the neuroimaging pattern alone is insufficient to determine the aetiology of stroke in a paediatric population. The results show a poor correlation between lesion pattern and aetiology.

Intraoperative monitoring of motor-evoked potentials in children undergoing spinal surgery.

STUDY DESIGN: Clinical case series. OBJECTIVE: To study the combined use of modifications of stimulation methods and adjustments of anesthetic regimens on the reliability of motor-evoked potential (MEP) monitoring in a large group of children undergoing spinal surgery. SUMMARY OF BACKGROUND DATA: Monitoring of MEPs is advocated during spinal surgery, but systematic data from children are sparse. METHODS: A total of 134 consecutive procedures in 108 children <18 years of age were analyzed. MEPs were elicited by transcranial electrical stimulation (TES) and supplemented by temporal and spatial facilitation. The standard anesthesia regimen consisted of propofol, nitrous oxide, and remifentanil. Propofol was replaced with ketamine if no reliable MEPs could be recorded. In children <6 years of age, a ketamine-based anesthesia was used. RESULTS: With temporal facilitation alone, reliable MEPs were obtained in 78% (105 of 134) of the procedures and, if combined with spatial facilitation, in 96% (129 of 134) of the procedures. Reliable MEPs were documented in 98% (111 of 113) of children >6 years and in 86% (18 of 21) in children <6 years of age. CONCLUSIONS: Combining spatial facilitation with a TES protocol improved monitoring of corticospinal motor pathways during spinal surgery in children. A ketamine-based anesthetic technique was preferred in children <6 years of age.

Improvement of motor-evoked potentials by ketamine and spatial facilitation during spinal surgery in a young child.

Monitoring motor evoked potentials is desirable during spine surgery but may be difficult to obtain in small children. In addition, the recording of reliable signals is often hampered by the presence of various anesthetics. We report the case of a young child whose motor evoked potentials were successfully monitored using a ketamine-based anesthesia and a newly introduced stimulation technique consisting of combined spatial and temporal facilitation.

Incidence and diagnosis of unilateral arterial cerebral infarction in newborn infants.

AIMS: Magnetic resonance imaging (MRI) is accepted as the gold standard for the diagnosis of arterial cerebral infarction (ACI), but few studies have reported the incidence of neonatal ACI based on MRI findings. We provide new population-based epidemiologic and diagnostic data on all infants diagnosed between 1997 and 2002 in our center with an MRI-confirmed diagnosis of unilateral neonatal ACI. RESULTS: Nine patients were identified, giving an incidence of 1:2300 unilateral ACIs in our inborn population. In all patients the middle cerebral artery was affected. Seven patients showed epileptic seizures, usually starting within the first 3 days of life. EEG was pathologic in all patients. Only three infarctions were diagnosed by ultrasound. Initial MRI established diagnosis of ACI in eight out of nine patients and subsequent MRI described the exact location of infarctions in all patients. Six out of nine patients developed hemiparesis and five had deficits in language development. There is a substantial need for special care facilities and long-term therapeutic interventions. CONCLUSIONS: The incidence of neonatal ACI is higher than previously reported. The sensitivity of early cerebral ultrasound for diagnosis of ACI is low. Seizures in the first 3 days of life combined with pathologic EEG findings should lead to MRI, regardless of normal cerebral ultrasound.