E. Kontopoulos

L-2-hydroxyglutaric aciduria presenting with severe autistic features

L-2-Hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive neurometabolic disorder characterized by psychomotor delay, ataxia, macrocephaly and typical neuroradiological findings of subcortical leucoencephalopathy. Recently, the disease causing gene has been discovered (L2HGDH) encoding L-2-hydroxyglutarate dehydrogenase. We present a 3-year-old boy with L-2-HGA, who demonstrated macrocephaly, noted already in utero with ultrasound. Cranial MRI demonstrated diffuse subcortical encephalopathy with increased signal of the subcortical white matter. Subsequent metabolic screening revealed increased levels of L-2-HGA, and genomic DNA analysis demonstrated two missense mutations in L-2-HGDG. Patients further motor development was mildly impaired, whilst his speech development was profoundly impaired (first words at the age of 2 years). Since the age of 2 years he started demonstrating autistic repetitive behaviors and movements, increasing aloofness to his environment and limitations in the variety of spontaneous activity (CARS score: 44/60-severe autism). Autism has not so far been described in L-2-HGA and may be considered as an additional feature of the phenotypic spectrum.

Using postural reactions as a screening test to identify high-risk infants for cerebral palsy: a prospective study

To clarify the predictive value of the seven more commonly used postural reactions (PR) in the 1st year of life regarding the diagnosis of cerebral palsy (CP), we prospectively examined 204 high-risk infants of whom 58 developed CP, 22 had developmental retardation (DR) and 124 were normal at follow-up at 3 years of age. Abnormalities of five or more PR from the 1st month of life were correlated with spastic CP, while five or six abnormal PR were also correlated with athetoid CP. Three or less abnormal PR correlated with a normal outcome. All seven PR tested were significantly abnormal in children with spastic CP from the 1st month compared to normal children. Athetoid children demonstrated abnormalities of the Peiper-Isbert (P-I) reaction and Vojta reaction from the 1st month and of the vertical, horizontal and Collis vertical suspension from the 3rd month. Children with DR had significantly abnormal Collis horizontal and Collis vertical suspension, Vojta reaction and traction response from the 1st month and Peiper-Isbert reaction from the 3rd month. Ataxic children demonstrated significantly abnormal traction response from the 1st month, Collis horizontal reaction from the 7th month and Peiper-Isbert reaction from the 11th month. We conclude that the examination of PR is a useful quantitative and qualitative diagnostic screening tool for high-risk infants from the 1st month of life.

Single dose immunoglobulin therapy for childhood Guillain-Barrésyndrome

To establish the efficacy of intravenous immunoglobulins (IVIG) in the treatment of acute Guillain-Barré syndrome (GBS), we treated nine consecutive pediatric cases (age 2.5-13.5 years) fulfilling the criteria for GBS with a single dose of IVIG (Sandoglobulin; 2 g/kg/BW). None of the patients experienced any IVIG related side-effects. The mean time required to improve by at least one grade on the functional GBS scale after IVIG treatment was 3.5 days, while the mean period to regain ambulation was 11.2 days. Full mobilization without evidence of relapse in the follow-up period (mean 14.5 months) was noted in all but one patient who relapsed after 5 months. We conclude that the early use of a single IVIG dose may prevent further progression of the disease, thus shortening the clinical course of childhood GBS. The most beneficial IVIG dose regimen remains to be determined by controlled trials.

Somatosensory Evoked Potentials in Children With Bilateral Spastic Cerebral Palsy

Alterations were monitored of somatosensory evoked potentials in children with bilateral spastic cerebral palsy and these findings correlated with relevant clinical and laboratory parameters. Fifty-one children with bilateral spastic cerebral palsy (31 boys, 20 girls; age range 24-168 months) participated in the study. Abnormal somatosensory evoked potentials latencies were recorded in 23 of 34 (67.6%) cortical recordings of the median nerve and in 38 of 51 (74.5%) cortical recordings of the tibial nerve. Abnormal tibial nerve somatosensory evoked potentials were strongly correlated with abnormal electroencephalogram (P=0.014), while impaired median nerve recordings were correlated with abnormal visual evoked potentials (P = 0.02) and a history of perinatal or neonatal infection (P=0.016). Furthermore, perinatal/neonatal infection adversely effected the recordings in both tibial and medial nerves in quadriplegic patients (P=0.023). Sensory impairment is strongly related with abnormal visual evoked potentials, abnormal electroencephalogram, and a history of perinatal or neonatal infection.

Parental reports of health-related quality of life in greek children with neurofibromatosis type 1

To the Editor: We read with interest the article by Krab et al. We would like to add our experience on the impact of Neurofibromatosis type 1 (NF1) on the Health-Related Quality of Life (HRQoL) of Greek school-aged children. The parents of 43 nonselected children with NF1 (27 boys and 16 girls), ages 6 to 14 years (mean: 10.1 years, SD: 3 years), completed the Child Health Questionnaire–Parent Form 50 (CHQ–PF50) in a prospective observational study. The parental form of CHQ is the only quality-of-life instrument currently translated in Greek, validated, and cross-culturally adapted for use in Greek children. All the children included in the study met the diagnostic criteria of the National Institutes of Health and had been regularly followed from the age of the diagnosis at the Department of Pediatrics of a tertiary care university hospital. The results of the parental reports of the NF1 group were compared with those of a group of 61 healthy aged-matched peers (Table). The comparison between the two groups showed that almost every aspect of the HRQoL of children with NF1 is, according to their parents, significantly affected by their condition. A significant positive correlation has been found between lower CHQ-PF 50 scores and disease complications, especially optic pathway gliomas (P < .05) and cognitive deficits (P < .01). Furthermore, better family relations and stronger family cohesion positively correlated with better physical and psychological adjustment of the children (P < .01). Our results are in accordance with the observations already made in adolescents and children demonstrating that NF1 adversely affects HRQoL of affected children. Diseaserelated and family-related variables seem to influence the outcome of HRQoL measures. Athanasios Vardarinos, MD, PhD Dimitrios I. Zafeiriou, MD, PhD Euthymia Vargiami, MD, PhD Polyxeni Pratsidou-Gertsi, MD, PhD Eleutherios Kontopoulos, MD, PhD Florentia Kanakoudi-Tsakalidou, MD, PhD First Pediatric Department Aristotle University of Thessaloniki