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A homozygosity mapping method is used to examine the real cause of acute liver failure and lactic acidemia in some infants with normal mtDNA content, earlier believed to be caused by mtDNA depletion. Results reveal that acute infantile liver failure is caused by mutations in the TRMU gene, encoding a mitochondria-specific tRNA-modifying enzyme called tRNA 5-methylaminomethyl-2-thiouridylatemethyltransferase, which severely reduce levels of thio-modified mitochondrial tRNAs.

The technique of homozygosity mapping is employed for the identification of different mutations in the LP1N1 gene that cause recurrent, massive and acute myoglobinuria in childhood. Such recurrent rhabdomyolysis is shown to be caused by the different errors of glycogenolysis and oxidative phosphorylation.

The database of a major microbiology laboratory in Israel was searched to determine the prevalence of nontuberculous mycobacterial lymphadenitis in immunocompetent children. We observed a 4-fold increase in nontuberoulous mycobacteria [...]

3-Methylglutaconic aciduria has been described in two distinct syndromes. In one there was deficient 3-methylglutaconyl coenzyme A hydratase in fibroblast extracts where the only clinical manifestation was retarded speech development. In the second syndrome, the enzyme activity was normal but prominent neurological deterioration was noted. We describe two siblings with 3-methylglutaconic aciduria with normal enzyme activity who had choreoathetoid movements, optic atrophy, and mild developmental delay. The boy demonstrated developmental improvement in his second year of life, and his sister developed well, with normal school performance. These patients represent a new clinical variant of the second syndrome with a relatively favorable prognosis.

This study sought to investigate the need for thrombophilia screening in pediatric migraineurs. The cohort included 45/824 children (5.5%) aged 3-18 years with migraine who were tested for thrombophilia at a tertiary pediatric headache clinic. Results were analyzed by background factors and indications for screening. Rates of thrombotic factors were compared with a healthy historical control group. At least 1 thrombotic factor was positive in 19/45 patients (42%). The total thrombophilia risk rate was higher in patients with aura (n = 32). Lipoprotein(a) was the factor most often abnormal in the thrombophilia group of all factors tested (8/19, 42%), regardless of migraine type or gender. It was the only factor with a significantly higher prevalence in the migraine than the historical control group. Full thrombophilia testing in migraine in pediatric headache clinics does not seem to be justified. The high prevalence of elevated lipoprotein(a) in children with migraine warrants further investigation. [ABSTRACT FROM AUTHOR]

Background: Allodynia is prevalent in adults with migraine and has been associated with long disease duration and severe course. Studies of the pediatric population are sparse. The aim of this study was to evaluate the rate of cephalic cutaneous allodynia in children and adolescents within the first 6 months of migraine onset and to identify associated clinical and migraine-related parameters.Methods: The electronic database of a tertiary pediatric headache clinic from 2014 to 2017 was retrospectively searched for all children and adolescents diagnosed with migraine headache within 6 months or less of symptom onset. Cephalic cutaneous allodynia was identified by validated questionnaire. Demographics, symptoms, and headache-related parameters were compared between patients with and without allodynia.Results: The cohort included 119 patients, 69 girls (58.0%) and 50 (42.0%) boys, of mean age 11.6 ± 3.6 years. Mean time since onset of migraine disease was 3.6 ± 1.8 months. Cephalic cutaneous allodynia was reported by 31.1% of patients. It was significantly associated with female gender ( p = 0.03), older age at admission ( p = 0.037), older age at onset ( p = 0.042) migraine with aura ( p = 0.002), and higher rate of awakening pain ( p = 0.017).Conclusions: Cephalic cutaneous allodynia may occur in children and adolescents already in the first 6 months of migraine onset. Contrary to adult studies, we found no association of allodynia with migraine frequency or long disease duration. Allodynia was significantly associated with migraine with aura, female gender, and awakening pain. A genetic tendency may contribute to the appearance of allodynia in the pediatric age group. [ABSTRACT FROM AUTHOR]

Migraine is known to run in families and has long been considered a strongly heritable disorder. We sought to investigate the age of onset of migraine between successive generations. Our retrospective cohort included 102 children with migraine who were referred to a pediatric headache clinic and their affected parent(s). Age at migraine onset was significantly lower in the children with a history of maternal or paternal migraine than in their mothers or fathers (P < .001). In conclusion, data on parental history of migraine showed that children with migraine were significantly younger at first appearance of the disease than their affected parents. [ABSTRACT FROM AUTHOR]