The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n = 3123) and in a clinically heterogeneous group of 1289 patients. Recessive pathogenic variants, including six novel ones were revealed in 22/26 patients. Infantile Alpers-Huttenlocher syndrome and adulthood ataxia spectrum were the most common found in our group. Distinct molecular profile identified in the Polish patients with significant predominance of p.Trp748Ser variant (50% of mutant alleles) reflected strikingly low population frequency of the three remaining variants and slightly higher p.Trp748Ser allele frequency in the general Polish population as compared to the non-Finish European population.

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by increased mammalian target of rapamycin (mTOR) activation and growth of benign tumors in several organs throughout the body. In young children with TSC, drug-resistant epilepsy and subependymal giant cell astrocytomas (SEGAs) present the most common causes of mortality and morbidity. There are also some reports on the antiepileptic and antiepileptogenic potential of mTOR inhibitors in TSC. However, the data on everolimus efficacy and safety in young children are very limited. AIMS: To show the long-term safety data and the effect of everolimus treatment on epilepsy in children under the age of 3 who received everolimus for SEGAs associated with TSC. METHODS: We present the results of everolimus treatment in 8 children under the age of 3 who participated in EXIST-1 study. Five patients presented with active, drug-resistant epilepsy at baseline. The mean follow-up is 35 months (33-38 months) and all children are still on treatment. RESULTS: In 6 out of 8 children, at least a 50% reduction in SEGA volume was observed. In 1 child with drug-resistant epilepsy, everolimus treatment resulted in cessation of seizures and in 2 other children, at least a 50% reduction in the number of seizures was noted. The incidence of adverse events (AE) was similar to that observed in older children and adults. CONCLUSIONS: This study suggests that everolimus is effective and safe in infants and young children with epilepsy and SEGA associated with TSC and offers a valuable treatment option.

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex.

BACKGROUND: Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-resistant epilepsy and mental retardation in more than 80% of patients. Clinical epileptic seizures are preceded by deterioration of EEG recording thus infants with high risk of epilepsy can be identified. AIMS: We hypothesized that preventative antiepileptic treatment of infants with multifocal activity on EEG might lower the incidence of drug-resistant epilepsy and mental retardation. METHODS: Forty-five infants with early diagnosis of tuberous sclerosis complex were included in the open-label study. They were divided in two groups: standard (n=31) and preventative one (n=14). In standard group the antiepileptic treatment was launched early, but after the onset of seizures. In preventative group medication was commenced when active epileptic discharges were seen on EEG, but before the onset of clinical seizures. Children were followed till the end of 2 years of age. RESULTS: At 24 months of age mental retardation was significantly more frequent and severe in "standard" vs "preventative" group (48% vs 14%; p=0.031; mean IQ score 68.7 vs 92.3; p<0.05). The "preventative" group was characterized by higher ratio of seizure-free patients (93% vs 35%; p=0.004), lower incidence of drug-resistant epilepsy (7% vs 42%; p=0.021) and lower number of patients requiring polytherapy (21% vs 55%; 0.039) than the "standard group. CONCLUSIONS: Preventative antiepileptic treatment of infants with tuberous sclerosis complex and high risk of epilepsy markedly improves their neurodevelopmental outcome and reduces the incidence of drug-resistant seizures.

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex.

PURPOSE: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome. METHODS: A single-center, retrospective analysis was performed of patients with documented TSC seen from 1988 to 2010 at the Children's Memorial Health Institute, Warsaw, Poland. KEY FINDINGS: Sixty-two patients were analyzed, and there was a significant correlation between younger age at the first seizure and developmental delay. The patients who did not develop seizures had normal development, despite some presenting with higher tuber load than those with seizures. There was a statistically significant negative correlation between the number of tubers within the right temporal lobe and cognition. SIGNIFICANCE: Our findings confirm our hypothesis that the cognitive outcome in TSC is more dependent on the age of the seizure onset rather than on the tuber count.

Epidermal nevus syndrome and intraspinal hemorrhage.

The epidermal nevus syndrome (ENS) is a rare neurocutaneous disease characterized by extensive epidermal nevi and a wide variety of abnormalities involving brain, eyes, and skeleton. Neurological symptoms in ENS include seizures, paresis, and mental retardation and are usually ascribed to hemimegalencephaly and various migration disorders. It was suggested that in some patients neurological symptoms might be secondary to vascular abnormalities. We report a case of a patient with diagnosed ENS without any primary CNS lesions, who developed paraplegia resulting from spinal cord hemorrhage. The patient presented many vascular and skeletal anomalies.

[Environmental awareness of the residents of Szczecin]. / Swiadomosc ekologiczna mieszkanców szczecina.

PURPOSE: The aim of the study was to examine environmental awareness of the residents of Szczecin. MATERIAL AND METHODS: The study was carried out in 2004-2005 among 132 residents of Szczecin between the age of 18 and 55 years. The main research tool was a questionnaire which included fifteen questions about the sensitivity to environmental issues, attitudes, ecological knowledge, and pro-ecological behavior of the respondents. RESULTS AND CONCLUSIONS: Most of the respondents declared that they are able to foster improvements in the natural environment and are aware of the problems connected with environment pollution in their vicinity. The pro-ecological behavior is manifested by reducing water (68%) and electric energy consumption (75%), by pro-ecological consumer attitudes (66%) and waste sorting (55%). Very few of Szczecin's residents are members of ecological organizations (5%). The main sources of knowledge about environmental protection are the radio and television (38%), press (31%) and the internet (16%). Among the respondents there was a group of people (15%) showing interest in and sensitivity to environmental issues and was therefore called a pro-ecological group. Nevertheless, environmental awareness of the residents of Szczecin is rather low and still needs to be improved through professional educational activities.

[Osteoblastoma of the dens axis in a 14-year-old boy. A case report]. / Guz zeba kregu obrotowego (osteoblastoma) u 14-letniego chlopca. Opis przypadku.

We present a case of osteoblastoma of C1 in a 14-year-old boy. The case deserves attention because it is a conglomerate of issues important from the point of view of clinical practice. Key issues associated with this interdisciplinary pathology are discussed, such as diagnostic problems, stabilisation of the cervical spine and extensive surgery associated with the risk of severe bleeding in a Jehovah Witness. A short review of pertinent literature is included.

[Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature]. / Choroba moyamoya wspólistniejaca ze zwezeniem tetnic pozaczaszkowych--opis przypadku i przeglad pismiennictwa.

We report on a 6-year-old boy with a 2.5-year history of recurrent cerebral ischemic strokes and moderate systemic hypertension. Brain angio-MR examination revealed stenosis of cerebral arteries with a network of collateral vessels that are characteristic features for moyamoya disease. However, further examination, including angio-CT of abdominal vessels, revealed a significant stenosis of the aorta, celiac trunk and bilateral renal arteries. As the literature shows worse prognosis for moyamoya hypertensive patients having their blood pressure reduced, our patient, though hypertensive, remains disqualified for blood pressure reduction.

[Usefulness of cerebral SPECT in the children with migraine]. / Przydatnosc badania SPECT mózgu u dzieci z migrena.

UNLABELLED: The aim of the study was to evaluate the regional cerebral blood flow (rCBF) occurring interictally in children with migraine using SPECT The study included 30 patients (16 boys and 14 girls) aged 8-16 with migraine with and without aura during attacks. SPECT scans were performed after i. v. injection of 99mTc-ECD of 0.3 mCi/kg b.m. Uptake of the tracer was determined in different regions of interest in the cortex. 11 patients showed homogenous distribution over all cortical regions and rCBF expressed as a cerebral/cerebellar ratio was within the normal range. Reduced perfusion and asymmetry ranging between the right and left hemisphere within 7-10% was observed in 19 out of 30 patients with migraine attacks. In all these 19 cases we observed localization of hypoperfused foci in SPECT imaging matched with the side of migraine pain. CONCLUSIONS: The interictal rCBF is both reduced and asymmetric in children suffering from migraine and the side of migraine pain is in accordance with the localization of hypoperfusion in SPECT.

[Ataxia telangiectasia syndrome: clinical picture and immunological abnormalities]. / Zespól ataksja-teleangiektazja: obraz kliniczny i zaburzenia immunologiczne.

Ataxia-telangiectasia (AT) is the primary immunodeficiency with chromosomal instability. AT is a multisystem, autosomal recessive disorder characterised by progressive cerebellar ataxia, oculocutaneous telangiectasia, and increased susceptibility to recurrent respiratory tract infections and cancer predisposition. The cells from AT patients are radiosensitive to ionizing radiation and DNA repair damage. The gene responsible for AT is localised at chromosome 11q23.1, and encodes protein ATM that is important in the cell cycle control. In AT, both the humoral and cellular immune systems are affected including deficiency of serum IgA (70% of patients), IgG2 and IgG4, and deficiency of serum IgG (30% of patients). Functional tests of lymphocytes T revealed poor proliferative responses to phytohemagglutinin.