Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.

Pelizaeus-Merzbacher disease (PMD) is an X-linked myelination disorder most frequently caused by duplication of a genomic segment of variable length containing the PLP1 gene. We studied five PMD male patients affected by the classic PMD form carrying a PLP1 gene duplication. On the basis of clinical and neuroradiological features, two of the five patients appeared to be the most severely affected. In order to establish a possible genotype-phenotype correlation, the extent of the duplication was determined in each patient and in the respective mother by quantifying the copy number of genomic markers surrounding the PLP1 gene by a real-time PCR-based approach. Duplications, ranging in size from 167-195 to 580-700 kb, were in the same genomic interval of the majority of the reported duplications. The extent of the duplicated genomic segments does not correlate with the clinical severity. Interestingly enough, each duplication had one of the two breakpoints in or near to low copy repeats (LCRs), supporting recent evidence concerning a possible role of LCRs in the generation of the duplications in PMD.

Comorbidity of DCD and SLI: Significance of epileptiform activity during sleep.

BACKGROUND: In children affected by specific language impairment (SLI), many authors have investigated a link between language and epileptiform discharges during sleep resembling the focal sharp waves typical of benign epilepsy with centro-temporal spikes (BECTS), the so-called rolandic spikes. On the other hand, the same electroencephalographic trait occurs in more than 50% of children affected by learning or behavioural disabilities without seizures, supporting the hypothesis of a common genetic disposition. The biological background of Developmental Coordination Disorder (DCD) is currently unknown, but a genetic liability may be assumed. The aims of our study were first to estimate the prevalence of sleep-related epileptiform discharges in children affected by DCD and second to investigate the occurrence of DCD in a population of children affected by BECTS. METHODS: We selected a group of eight children with severe DCD. In this group, the presence of epileptiform activity was investigated. We also searched for DCD among a group of 13 children affected by BECTS. RESULTS: We found rolandic spikes in more than 70% of the children with severe DCD and severe DCD in more than 30% of the children with BECTS. CONCLUSIONS: In children with severe DCD other disabilities are frequently associated. In these children, epileptiform activity during sleep is very frequently found and in our opinion, this represents a hallmark of 'Hereditary Impairment of Brain Maturation', a term only partially resembling 'Atypical Brain Development'.

Benign parasomnias and nocturnal frontal epilepsy: differential diagnosis in a case report.

We report the case of a 13-year-old boy who complained of complex motor episodes during sleep characterized by sudden arousal followed by deambulation associated with automatic movements and vocalization. His family history included both epileptic and psychiatric disorders. The patient himself presented psychopathologic traits and adaptive difficulties. In support of an epileptic origin of these phenomena were the stereotyped fashion in which they appeared and their responsiveness to carbamazepine. We classified the present case as a nocturnal frontal epilepsy with variable manifestations that can be classified as paroxysmal arousals, paroxysmal dystonia, and epileptic nocturnal wanderings. It was possible to differentiate such events from the most common parasomnias on the basis of videopolysomnographic studies.

Epilepsy associated with infantile hemiparesis: predictors of long-term evolution.

To study the evolution of epilepsy associated with infantile hemiparesis (IH) in relation to age and identification of factors predictive of pharmacoresistance. Thirty-four children with epilepsy and associated IH were followed for a period of 13 years and 3 months (range 5-19 years). All the patients underwent clinical evaluation and EEG, CT and/or MRI. Disease course was evaluated from the time of diagnosis of epilepsy to end of follow-up by differentiating the cases with severe pharmacoresistance from those with favourable outcome. Several possible prognostic factors were identified predicting evolution toward intractable epilepsy. Univariate statistical analysis by calculating odds ratio (OR) with 95% confidence interval (CI) and multivariate analysis by logistic regression were performed. Eleven cases presented severe epilepsy evolving toward pharmacoresistance; duration of epilepsy was always longer than 8 years. Twenty-three cases (seven with severe epilepsy and 16 with mild epilepsy) evolved toward remission; in these patients epilepsy duration was shorter (2-7 years) and a complete remission was obtained within 12 years of age. Significant prognostic factors associated with pharmacoresistance included: non-vascular causes, cortical lesions, mixed and frequent seizures during the first two years of epilepsy. Our results show that surgical treatment could be considered in cases with unfavourable prognostis factors.

[Thrombocytopenia, arthritis and enteropathy: a casual association or the expression of a unique entity?]. / Trombocitopenia, artrite, enteropatia: associazione occasionale o espressione di un'unica entità?

The arthropathy of inflammatory bowel disease (IBD) is a noninfectious arthritis occurring before or during the course of either regional enteritis or ulcerative colitis. Two patterns of joint disease are described: a chronic asymmetric oligoarthritis affecting peripheral joints, and a spondylo-sacroiliitis similar to the idiopathic type. Different criteria for diagnosis and classification (ACR and EULAR) of arthropathies associated with IBD are used and this is not helpful in order to a correct nosography. An unusual case of ulcerative colitis with thrombocytopenia and oligoarticular arthritis at onset, 4 and 2 years before the assessment of IBD, is reported. Moreover the arthritis had characteristics much more similar to a juvenile chronic arthritis (JCA) with pauciarticular onset of type I (FR-; ANA+) than to an enteropathic arthropathy.

[The use of n-3 fatty acids in chronic juvenile arthritis]. / Impiego degli acidi grassi n-3 nell'artrite cronica giovanile (ACG).

Juvenile Chronic Arthritis (JCA) is a chronic disease still lacking of a complete therapeutic solution. Therapy traditionally used consists of non steroidal anti-inflammatory drugs and in some selected cases of gold salt and immuno-suppressive agents. Recently it has been described the possibility of a dietary supplementation of n-3 fatty acids in addition to conventional pharmacotherapy. The aim of our study is to demonstrate the real efficacy of this dietary supplementation on JCA symptoms. The group of 16 patients treated, compared to a control group of 16 patients, has shown a significative decrease of CRP.