Melatonin and childhood refractory epilepsy--a pilot study.

BACKGROUND: The aim of the study was to assess diurnal melatonin secretion in children with refractory epilepsy (N=74) as compared to children without epileptic seizures (N=37) and to compare melatonin secretion in children with focal and generalized refractory epilepsy. MATERIAL/METHODS: In the study group 4 subgroups were defined: children with focal symptomatic epilepsy, focal cryptogenic epilepsy, generalized symptomatic epilepsy, and generalized cryptogenic epilepsy. Melatonin level was measured every 3 hours using the RIA method. RESULTS: Analysis of diurnal melatonin secretion indicated a lower level of the hormone in patients with refractory epilepsy. The daily rhythm of melatonin secretion in the study group was maintained, with a peak shift of melatonin secretion especially visible in the subgroup with generalized symptomatic refractory epilepsy in the age group between 6 months and 3 years of age. CONCLUSIONS: The hypothesis may be formed that a lowered level of melatonin in the study group in relation to the comparison group is the consequence of the natural course of epilepsy or is influenced by antiepileptic drugs.

Association between lipids and fibrinogen levels and ischemic stroke in the population of the Polish children with arteriopathy and cardiac disorders.

INTRODUCTION: The ischemic stroke is a rare problem in childhood. Cardiac problems, arteriopathy, coaguopathies or dyslipidemia are traditional risk factors for stroke. The aim of the present study was to assess the relations between levels of lipids and fibrinogen and stroke among Polish children. MATERIAL AND METHODS: We studied 75 patients (mean age: 8.24 +/- 5.56) and 71 healthy children (mean age: 10.32 +/- 5.7). The diagnosis of ischemic stroke was established with the WHO definition. RESULTS: Serum triacylglycerols level and plasma fibrinogen level may be considered as risk factors for childhood stroke (p=0.004, OR=7.01 and p=0.024, OR=2.16, respectively). In the subgroup of stroke children with cardiac problems the triacylglycerols level is also the risk factor for stroke (p=0.006, OR=7.14). CONCLUSIONS: Levels of triacylglycerols and fibrinogen again differentiated the subgroup of children with neurological deficits from controls. In conclusion, the levels of triacylglycerols and fibrinogen are important risk factors in the etiology of stroke.

Maternal phenylketonuria.

The maternal phenylketonuria (MPKU) syndrome is an example of biochemical teratogenesis caused by high phenylalanine concentrations in serum of a pregnant woman (over 360 micromol/L). Active transport through the placenta increases 1.5-fold the phenylalanine level in the child's blood as compared to concentrations recorded in the mother. Increased phenylalanine concentrations may lead to disorders in proliferation of neural cells, neuronal migrations and affect the process of synaptogenesis and myelination. The authors present two children with maternal phenylketonuria with a characteristic clinical picture. Particular attention was drawn to the fact of diagnosed phenylketonuria in mothers following a suspicion and diagnosis of maternal phenylketonuria in children, as well as the occurrence of refractory epilepsy in one of the patients. The mothers' average phenylalanine concentration exceeded the value of 1300 micromol/L, while in children it ranged between 117-160 micromol/L.

[Sudden infant death syndrome--current opinions on etiology and pathogenesis]. / Zespól naglej smierci dziecka (niemowlecia)--aktualne poglady na etiologie i patogeneze.

Sudden infant death syndrome (SIDS) remains still unsolved medical entity. At present about 80 theories and hypotheses concerning SIDS exist. The authors describe current opinions concerning SIDS pathogenesis and etiology.

[Situation-related seizures in patients at developmental age]. / Napady sytuacyjne u pacjentów w wieku rozwojowym.

The seizures which accompany specified situations occur in about 5% of population. They are frequent in patients at developmental age due to a different degree of brain maturity. A single, occasional seizure event which occurs in specified situations is not an epilepsy but it constitutes a significant clinical problem which requires a thorough diagnostics and procedure. We discuss situation-related seizures (also called acute symptomatic seizures) in children, excluding febrile convulsions. We bring attention to situation-related seizures characteristic only of developmental age.

[Back pain in children]. / Zespoly bólowe kregoslupa u dzieci.

Back pain and pain of the surrounding structures leads to significant diagnostic and therapeutic difficulties which result from a complex pathomechanism. They are the symptom of a large number of pathologic processes that may to a varying extent contribute to pain related manifestation of symptoms. In 80-90% of cases the cause of the back pain remains unknown, only in 10-20% adult patients it is feasible to establish the etiological factor during one year observation. Contrary to the situation in adults, in over 50% of children it is possible to identify the cause of the reported ailments. The authors present etiological factors and clinical symptoms in 44 patients, hospitalized because of back pain in Child Neurology Department of Medical University of Silesia in Katowice in the period between 2004 and 2007.

Angelman syndrome revisited.

OBJECTIVES: Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13. STUDY DESIGN: The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 years) with confirmed Angelman syndrome. The patients complied with the international consensus criteria for AS and were consecutively investigated for psychomotor development, epilepsy, and electroencephalogram (EEG) profiles. RESULTS: The median age at diagnosis was 3.9 years. The motor milestones were delayed. Median developmental quotient level was 26. All patients but 1 experienced predominantly polymorphic seizures. In 4 cases, the epilepsy was refractory to treatment. The EEG of all patients displayed an abnormal sleep pattern and generalized abnormalities, with a maximum over the posterior areas. CONCLUSIONS: Milder or less typical phenotypes of AS may remain undiagnosed, leading to an overall underdiagnosis of the disease. The EEG shows no clear relation to genotype, clinical picture, or to the presence and severity of epilepsy. AS should be considered in the differential diagnosis of children with severe cryptogenic epilepsy and a characteristic configuration of clinical features.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disorder with autosomal recessive inheritance. The major symptoms of PKAN include the onset before the age of 20 years, progressive pyramidal and extrapyramidal signs, retinitis pigmentosa, optic atrophy, dementia, and iron depositions in the globus pallidus. The authors present 3 patients with proven molecular diagnosis of PKAN, in whom 2 novel mutations of PANK2 gene have been identified.

Lipid raft disease? A new severe congenital myopathy.

We report a 5-year-old girl with a unique neuromuscular disorder manifested by early onset of the disease, delayed motor development, joint contractures, dysmorphy, cobbler's chest, generalized muscle hypoplasia and weakness. Morphological examination revealed muscle cell immaturity and the appearance of multilamellar myelin-like structures within and outside the sarcolemma. Overexpression of aberrant lipids on the surface of affected muscle cells may suggest some failure in lipid raft formation.

Clinical and neuropathological picture of familial encephalopathy with bifunctional protein deficiency.

Peroxisomal diseases are a heterogeneous group of genetic metabolic disorders which are caused by incorrect biogenesis of peroxisomes or a defect in activity of particular enzymes located in those organelles.D-bifunctional protein (D-BP) deficiency belongs to the second group of peroxisomal diseases characterised by dysfunction of a single peroxisomal enzyme. Bifunctional protein is a catalyst in the second and third stage of the beta-oxidation of fatty acids. Gene locus of bifunctional protein deficiency comprises chromosomes 5q2 and 3p23-p22. The authors present two siblings with progressing family encephalopathy. In the younger brother the diagnosis of a bifunctional protein deficiency was made. The girl died before a diagnosis was made;however, due to the presence of a very similar clinical condition a suspicion arises that the girl had a peroxisomal disease. In the siblings were ascertained characteristic dysmorphic features, delayed psychomotor development, polymorphic epileptic seizures and generalized muscular hypotonia with areflexia. The neuropathological findings were consistent in general with MRI findings showing features of hypomyelination. Also neuron heterotopias that were found in autopsy are a form of pathology typical for D-BP.

Angelman syndrome and hypothyroidism - coincidence or unique correlation?

Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.

[A first convulsive seizure in children--diagnostic procedures and treatment]. / Pierwszy napad drgawek u dzieci--postepowanie diagnostyczne i leczenie.

The Authors discusses in succession: acute symptomatic seizures, diagnostic program age-related (studies in neonatal convulsions and newborn seizures), general treatment principles as well as a seizure recurrence percentage after a single seizure and management after a first seizure.

[Chickenpox--neurological complications in children]. / Ospa wietrzna--powiklania ze strony osrodkowego ukladu nerwowego.

Chickenpox is one of the most common infectious diseases in children. In most of the cases the disease is mild and no complications of it are being observed. However, in some of the paediatric patients, the disease may have a serious course with different complications. Most of them are not life-threatening, but some of them, like myocarditis, hepatitis or thrombocytopenia, may be dangerous. Neurological complications of Varicella-zoster virus infection, like encephalitis, meningitis, transverse myelitis, cerebellitis, polyneuropathy or an ischemic stroke, are relatively rare. The authors present 5 children with different neurological complications of chickenpox. The neurological complications of chickenpox did not result in permanent sequel but the cost of hospitalization and the exclusion of the child from everyday activity seem to justify the idea of the routine vaccination.

[Diagnostic problems with long QT syndrome in 5-year-old boy]. / Trudnosci diagnostyczne w rozpoznaniu zespolu wydluzonego QT u 5-letniego chlopca.

The authors described the case of 5-year-old boy, in whom a proper diagnosis was established after 19 months. In differential diagnosis, epileptic, tetanic and conversion seizures were taken into consideration.

Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination.

Huntington disease is a dominantly inherited, neurodegenerative disorder, usually with onset in the fourth to fifth decade of life but in a small proportion of patients before the age of 20 years. The early-onset form, juvenile Huntington disease, is clinically different from that of more common adult-onset forms and includes cognitive decline, parkinsonism, myoclonus, and seizures. We report a case of a boy with juvenile Huntington disease with a very early age at disease onset (3 years). The suspected clinical diagnosis was confirmed by DNA analysis, which revealed (CAG)(n) expansion into the range characteristic of juvenile Huntington disease (95 repeats). The clinical course of the disease was typical for the juvenile form of Huntington disease, but the diagnosis was not so obvious because there was no history of any neurodegenerative disorder in the family. The child died at the age of 11 years. The detailed neuropathologic investigations performed postmortem showed the characteristic features of Huntington disease. As the patient's de novo mutation was very unlikely to occur, genetic counseling and the possibility of predictive testing were proposed to the family. Indirect molecular data indicate the familial character of the disease, with strong anticipation of transmission.

Hereditary neuropathy with liability to pressure palsy.

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disease with sensory and motor nerve palsies usually precipitated by trivial trauma or compression. In the majority of cases HNPP is caused by deletion of the peripheral myelin protein 22 gene (PMP22) on chromosome 17p11.2. The authors present a family case with genetically proven HNPP.

Malformations of cortical development in children: clinical manifestation, neuroimaging and neuropathology in selected cases.

Cerebral cortical development can be divided into three steps: cellular proliferation, neuronal migration and organization. Based on known pathologic, genetic and neuroimaging features a classification for malformations of cortical development was proposed by Barkovich in 2001, and updated in 2005. Malformations of cerebral cortex development (MCCD) often demonstrate epileptic seizures and delay in psychomotor development. About 20-40% of children with epilepsy are drug-resistant and there is a large paediatric population requiring epilepsy surgery operations. In our work we performed clinical analysis of 68 children with MCCD treated in our hospital between 2000 and 2006. In our work to consider the type of MCCD we used the updated classification scheme proposed by Barkovich et al. We analyzed epilepsy, gestational and perinatal history, initial symptoms, time to establishing full diagnosis and neurodevelopmental/IQ status. In our results we found that despite similar clinical manifestation neuropathological basis could be significantly different, and vice versa: children with nearly identical neuropathological findings could have completely different neurological and radiological symptoms. Children with drug-resistant epilepsy are potential candidates for neurosurgical treatment; especially lesionectomies in such cases could be very promising in terms of epilepsy management and quality of life as well.

The cerebral form of toxocarosis in a seven-year-old patient.

INTRODUCTION: Toxocarosis is a consequence of human infection by Toxocara canis larvae. There are symptomatic (visceral, ocular) and asymptomatic courses of toxocarosis. The cerebral form is very rare. CASE REPORT: We present a seven-year-old patient who developed a cerebral form of toxocarosis. She demonstrated focal neurological symptoms (epilepsy) confirmed by neuro-imaging and histopathological examinations. A positive test for toxocarosis essentially completed the other outcomes. On the basis of the clinical picture and the conducted tests a diagnosis of a cerebral form of toxocarosis was established. Mebendazole was applied in treatment.

[Niemann-Pick disease, type A: a case report]. / Choroba Niemanna-Picka typu A--opis przypadku.

Niemann-Pick disease (NPD) type A is a rapidly developing metabolic illness, with autosomal recessive mode of inheritance. A deficiency of the lysosomal enzyme--acid sphingomyelinase (ASM) produces the clinical phenotype with multiple organ involvement including the central nervous system. Type A NPD is characterized by failure to thrive, hepatosplenomegaly and rapidly progressive neurodegenerative course that leads to death by the age of 2-3 years. The authors report a 3-year-old boy with fatal course of the disease.

[Schizencephaly--clinical and radiological presentation of pediatric patients]. / Schizencefalia - obraz kliniczny i radiologiczny u pacjentów w wieku rozwojowym.

UNLABELLED: Schizencephaly is a rare central nervous system malformation. The anomaly is characterized by uni- or bilateral clefts in the brain's cerebral hemispheres. There are 2 types of the anomaly distinguished: type I ("closed lips") if there are fused clefts in cerebral mantle and type II ("open lips") if the clefts are separated. The etiology of this malformation is not clear; both environmental (intrauterine cytomegaloviral infection) and genetic risk factors are considered (mutations in EMX2, Lhx2 genes). The aim of the study was the analysis of clinical presentation, neurodevelopment progress and seizures in children with schizencephaly. MATERIAL AND METHODS: We examined 9 children (4 girls, 5 boys) at the age of 3 months to 11 years at the time of schizencephaly diagnosis. The neuroimaging (computed tomography--CT or/and magnetic resonance imaging--MRI) was performed in all of the patients. We found bilateral schizencephaly in 7 patients and unilateral in 2 of them; in 5 patients the brain anomalies other than schizencephaly were found. Epileptic seizures are present in 7 patients; in 2 of them the epilepsy is drug resistant. The development is delayed in all our patients, in spite of one. CONCLUSIONS: Schizencephaly is a severe brain malformation almost always leading to developmental delay and epilepsy. We did not found the correlation between the type of anomaly and clinical course, the degree of developmental delay and the severity of epilepsy in our group patients.