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.

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.

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.

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.

[Environmental awareness of the residents of Szczecin].

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.

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.

[Usefulness of cerebral SPECT in the children with migraine].

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.

[Osteoblastoma of the dens axis in a 14-year-old boy. A case report].

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.

[Moyamoya disease associated with stenosis of extracranial arteries: a case report and review of the literature].

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.

[Ataxia telangiectasia syndrome: clinical picture and immunological abnormalities].

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.