Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.

Epilepsy is one of the most common neurological disorders with diverse phenotypic characteristics and high genetic heterogeneity. Epilepsy often occurs in childhood, so timely diagnosis and adequate therapy are crucial for preserving quality of life and unhindered development of a child. Next-generation-sequencing (NGS)-based tools have shown potential in increasing diagnostic yield.

Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.

We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer.

Malformations of cortical development in children with congenital cytomegalovirus infection - A study of nine children with proven congenital cytomegalovirus infection.

Congenital cytomegalovirus (CMV) infection is the most common vertically transmitted disease with the rate of the infection ranging from 0.2 to 2.4% in newborn infants.

Infantile spasms in children with Down syndrome.

Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5-13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and antiepileptic drugs.

Lenticulostriatal vasculopathy - a marker for congenital cytomegalovirus infection?

Lenticulostriate vasculopathy (LSV) is an ultrasound (US) visible lesion of the brain, which appears as echogenic streaks or spots in the arteries of thalamus and basal ganglia. LSV has varied etiology. Transfontanelar Color Doppler (TFCD) can easily display lenticulostriatal blood flow and assess: stage I LSV with present flow within echogenic changes and stage II LSV in which the flow disappears, despite a presence of streaks and spots, which at this stage most probably correspond to calcification.

[Diagnostic procedures in pediatric migraine].

The "gold standard" in the diagnosis of pediatric migraine includes personal history, clinical and neurological examination. Many important data on previous morbidity, psychosocial status and recent sickness (today's headache) can be found by using an interview, "face to face", or by "headache diary". On clinical examination, it is important to pay due attention to cardiovascular and respiratory systems as well as to examination of the skin.