Elżbieta Marszał
Medical University of Silesia
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Featured researches published by Elżbieta Marszał.
Childs Nervous System | 2006
Justyna Paprocka; Ewa Jamroz; Dariusz Adamek; Elżbieta Marszał; Marek Mandera
IntroductionParry–Romberg syndrome (progressive facial hemiatrophy) is a unilateral, slowly progressive atrophy affecting the skin, subcutaneous tissues, muscles, and bones. The relationship between Parry–Romberg syndrome and connective tissue disorders, especially scleroderma en coup de sabre, is still unclear. The neurological symptoms, including epilepsy, migraine, and brain lesion, on neuroimaging may be similar. Rasmussen encephalitis (RE) is connected with chronic inflammation and damage of one hemisphere. Clinically, it is manifested by epileptic partial seizures and unilateral neurological symptoms.Case ReportThe authors present the case of a 10-year-old girl with features suggestive of RE, with refractory partial motor dextrolateral seizures followed by development of hemiparesis and with progressive intellectual deterioration. At the age of 2 years, some changes on the left part of the face typical of Parry–Romberg syndrome or a linear form of scleroderma were noticed.DiscussionThe authors discussed the difficulties in differential diagnosis in that patient. The presented girl constitute the case from the borderline zone of the aforementioned disorders.
Journal of Child Neurology | 2000
Elżbieta Marszał; Ewa Jamroz; Jacek Pilch; Ewa Kluczewska; Halina Jablecka-Deja; Robert Krawczyk
In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardis syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination. (J Child Neurol 2000;15:401-405).
Journal of Child Neurology | 2009
Iwona Zak; Beata Sarecka-Hujar; Ilona Kopyta; Ewa Emich-Widera; Elżbieta Marszał; Janusz Wendorff; Joanna Jachowicz-Jeszka
Ischemic stroke is a very rare and multifactorial disease in children. The aim of the study was to analyze the relationship between the methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and stroke in Polish children and to observe whether there is any significant transmission of MTHFR alleles from heterozygous parents to their affected offspring. We analyzed 64 patients with stroke, 122 parents, and 59 healthy children. The MTHFR polymorphism was genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism. The T allele was more frequent in the stroke group (38%) than in controls (25%, P = .029, odds ratio = 1.84). We also found higher frequency of T allele in male patients compared to male controls (46% vs. 25%, P = .009, odds ratio = 2.53). The number of T allele carriers was again more prevalent in boys with stroke (71%) than in healthy boys (45%, P = .023, odds ratio = 3.09). The T allele was significantly transmitted in male patients (P < .019). We conclude that the MTHFR 677C>T polymorphism may be considered as a genetic risk factor of childhood stroke, especially in boys.
Journal of Child Neurology | 2006
Katarzyna Wojaczyńska-Stanek; Dariusz Adamek; Elżbieta Marszał; Dorota Hoffman-Zacharska
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 patients 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.
Journal of Child Neurology | 2007
Beata Kazek; Ewa Jamroz; Martin Gencik; Aleksandra Jezela Stanek; Elżbieta Marszał; Katarzyna Wojaczyńska-Stanek
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.
Journal of Child Neurology | 2009
Ewa Jamroz; Dariusz Adamek; Justyna Paprocka; Maciej Adamowicz; Elżbieta Marszał; Ron A. Wevers
Congenital disorders of glycosylation are a heterogeneous group of disorders with multisystemic involvement. The most common form is phosphomannomutase deficiency or congenital disorders of glycosylation type Ia with an autosomal recessive inheritance and incidence estimated at 1/20000— 1/50000 live born. Congenital disorders of glycosylation Ia can manifest as severe multisystemic disease of infancy or milder disorder with only neurological problems including ataxia, hypotonia, and psychomotor retardation. The brain pathological findings in congenital disorders of glycosylation type Ia patients corroborate with cerebellar dysfunction. Usually the most affected part is the anterior lobe of the vermis. Microscopic analysis demonstrates the prominent Purkinje cell loss and subtotal loss of the external and internal granule cell layers. The authors present clinical and pathological picture of a 4-month-old girl with congenital disorders of glycosylation type Ia, additionally complicated by congenital cytomegalovirus infection. The diagnosis was confirmed by low phosphomannomutase activity in patients fibroblasts and mutations on both alleles of phosphomannomutase 2 gene.
Clinical Genetics | 2010
Maria A. Kalina; Barbara Kalina-Faska; Justyna Paprocka; Ewa Jamroz; Antoni Pyrkosz; Elżbieta Marszał; Ewa Małecka-Tendera
Kalina MA, Kalina‐Faska B, Paprocka J, Jamroz E, Pyrkosz A, Marszał E, Małecka‐Tendera E. Do children with Adams‐Oliver syndrome require endocrine follow‐up? New information on the phenotype and management.
Medical Science Monitor | 2010
Justyna Paprocka; Renata Dec; Ewa Jamroz; Elżbieta Marszał
Folia Neuropathologica | 2006
Beata Kazek; Ewa Jamroz; Grażyna Bierzyńska-Macyszyn; Ewa Kluczewska; Elżbieta Marszał
Folia Neuropathologica | 2006
Justyna Paprocka; Maciej Kajor; Ewa Jamroz; Jacek Jesipowicz; Pavel Seeman; Elżbieta Marszał