Neural cell adhesion molecules.

Adhesion molecules are expressed on the surface of various cells and establish cell-cell interaction, playing important roles in development, inflammatory reaction, immune response, and tissue regeneration. Neural adhesion molecules, found on neurons or glial surfaces, are involved in the migration of neurons, neurite formation, myelination, and denervation--reinnervation. The roles of cell adhesion molecules in malignancies, normal and abnormal development and as receptors in viral infections, constitute major fields of research and may have important diagnostic and therapeutic implications.     

A case of relapsing acute disseminated encephalomyelitis with high dose corticosteroid treatment.

We report a 16-month-old boy with acute disseminated encephalomyelitis (ADEM) who had an early relapse despite prompt treatment with high dose methylprednisolone. The second episode responded to intravenous immunoglobulin (IVIg). This case illustrates the probability of relapses or treatment failures in ADEM after steroid treatment, and the use of alternative drugs.     

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.

Forty-two missense, truncation, or splice-site mutations of the acetylcholine receptor (AChR) subunit genes have been reported to date in patients with congenital myasthenic syndromes. Here we report a homozygous mutation, epsilon-155G --> A, in the promoter region of the AChR epsilon subunit gene that converts the Ets-binding site of the promoter region from CGGAA to CAGAA. The asymptomatic parents and brother are heterozygous and an affected sister is homozygous for epislon-155G --> A. The Ets-binding site mediates synapse specific expression of the AChR epsilon subunit gene. An identical G-to-A mutation in the mouse Ets-binding site was previously shown to decrease the binding affinity of the Ets-binding site for the GA binding protein, a transactivating factor for the Ets-binding site, and to reduce the synapse specific expression of the epsilon subunit. The decreased synaptic expression of the epsilon subunit readily accounts for the congenital myasthenic phenotype.     

Language development and affecting factors in 3- to 6-year-old children

The aim of this study was to assess factors affecting language developmental screening test results in 33.0- to 75.0-month-old children. The study group consists of 402 children, 172 (42.8 %) boys and 230 (57.2 %) girls, aged 33.0–75.0 months who were examined in four age groups: 3 years (33.0–39.0 months), 4 years (45.0–51.0 months), 5 years (57.0–63.0 months) and 6 years (69.0–75.0 months). Demographic data and medical history obtained by a standard questionnaire and Denver II Developmental Test results were evaluated. Maternal factors such as mother’s age, educational level, and socioeconomic status (SES) correlated with language items in all age groups. Linear regression analysis indicated a significant effect of mother’s education and higher SES on certain expressive and receptive language items at 3 and 4 years. Fine motor items were closely related to language items at all ages examined, while in the younger (3- and 4-year-old) group gross motor items also were related to language development. Maternal and socioeconomic factors influence language development in children: these effects, already discernible with a screening test, can be potential targets for social and educational interventions. The interpretation of screening test results should take into account the interaction between fine motor and language development in preschool children.     

Molecular genetic analyses in neurofibromatosis type 1 patients with tumors

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentiation. We performed mutation analyses in the NF1-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NF1 patients with tumors. We identified a large deletion in the NF1 gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with an optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NF1 locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the NF1 gene may provide further insights into the pathogenesis of NF1 tumors.     

Phenylketonuria in pediatric neurology practice: a series of 146 cases

The neurologic manifestations of patients with phenylketonuria treated at different ages are illustrated in this series of 146 cases, including 9 sib pairs. In addition to well-known findings such as mental retardation, autistic features, microcephaly, and tremor, motor retardation was common and responded promptly to dietary treatment. Hypotonia and diminished reflexes were more frequent findings than hypertonia. Four sib pairs showed divergent features, such as the later-treated sibling having higher function than the early-treated one. Because siblings have a similar genotype and similar environmental and dietary conditions, this observation can be explained by differences in phenylalanine transport to the brain or additional metabolic or perinatal factors influencing the neurologic outcome.     

Clinical presentation of anti-N-methyl-d-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: A series of 24 cases

Objective

The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features.

Tuberculosis and atopy: a study in an endemic area

Atopy is expected to be less frequent and milder in patients with early exposure to bacterial infections because of regulatory immune mechanisms. The definition of the hygiene hypothesis and most of the related studies have been performed in children. In a population where both tuberculosis (tbc) and atopy are prevalent, we investigated skin test results to allergens in adults with tbc. A standard panel of skin-prick tests (SPTs) was applied to patients with active (n = 21) or inactive (n = 72) tbc and age-matched healthy control subjects (n = 76) from the same environment. Patients also had tuberculin skin tests applied twice at 8 weeks' interval. Patients with inactive tbc had a higher rate of allergic symptoms than those with active tbc (P < 0.01). SPTs were less frequently positive in tbc patients than in control subjects (P < 0.005). Tuberculin skin reactions were not related to SPTs positivity. Our results suggest allergic skin test reactions may be suppressed in patients with tbc: the interpretation of SPTs should be made accordingly.