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J Juryńczyk

Publications and source records attributed to J Juryńczyk.

12 recordsLinked to original sources
PubMed2000

[Devic disease: a rare cause of retrobulbar optic neuritis: a case report].

A case of 58-year-old woman with recurrent retrobulbar optic neuritis (ron) and transverse myelitis is presented. The patient was admitted to the opthalmology unit because of acute right retrobulbar optic neuritis. In 1997 she complained of left retrobulbar optic neuritis. One year later transverse myelitis of thoracic spine with spastic paraparesis occurred. MRI examination showed T2 hyperintensive focus in the thoracic spine (Th8-Th9, probably demyelinisation). Nowadays MRI examination of the optic nerves and brain showed demyelinisation focus in the right optic nerve. There was no pathological changes in the brain. The diagnosis of Devic disease was established. Treatment with intravenous methyloprednisolon was administered with slight improvement. The pathology and clinical course of Devic disease are discussed.

Anti-Inflammatory Agents↗
PubMedDate not supplied

[A case of myotonic dystrophy proved by DNA analysis].

The authors describe a case of a 53 years old man with myotonic dystrophy. Based on characteristic clinical symptoms and EMG results the diagnosis was established and proved on DNA examination. Myotonic dystrophy gene analysis showed on 3' untranslated region one hundred and fifty CTG triplet repeats. The accessory examinations revealed: cataract arrhythmias, gallbladder stones, impotence, cerebral atrophy on neuroimaging (CT and MRI). Apathy, somnolence, concentration troubles were present. Pedigree of the presented patient and possibility of spontaneous mutation are discussed.

Brain↗
PubMedDate not supplied

[Hemicrania continua: a case report].

Hemicrania continua is a rare idiopathic headache of unknown etiology. The clinical course is characterized by usually unilateral, continuous headache. There are some clinical variants of pain character and other symptoms. Indomethacin (50-150 mg per day, rarely higher) leads to complete remission in all patients. Current diagnostic procedures (including neuroimaging) should be recommended in all cases to exclude organic cause of headache. The authors report a case of a 46-year old woman with 3 years history of drug resistant, unilateral headache. Complete remission after administration of indomethacin (75 mg TID) was achieved. Problems of diagnostic, clinical course and treatment of hemicrania continua are discussed.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMedDate not supplied

[Lamotrigine in add-on therapy: assessment of efficacy in drug resistant epilepsy].

The authors presented the results of treatment with lamotrigine (LTG, Lamictal) in 13 patients with drug resistant epilepsy (add-on therapy). There were 8f, 5m. aged 16-60 years, mean age 28.8 years. Generalized seizures occurred in 8 patients (62%). In this group there was 1 patient (aged 16 years) with the Lennox-Gastaut syndrome and 1 patient (aged 20 years) with valproate resistant juvenile myoclonic epilepsy. Complex partial seizures and complex partial with secondary generalization occurred in 5 patients (38%). Before LTG addition mean seizure frequency was from 3/month to several times/day. The mean duration of epilepsy was 16.6 years. The 8 patients were treated with CBZ and VPA, one with PHT and VPA, one CBZ and VGB. Monotherapy with VPA was introduced in 3 patients. After 6 months of treatment with LTG the efficacy was evaluated. 12 patients took LTG with VPA, 1 LTG with CBZ. Complete reduction of seizures was achieved in 3 cases (23%), at least 50% reduction in 3 patients (23%), reduction below 50% in 4 patients (31%). In 3 cases (23%) the results of treatment were negative (increase or no change in seizure frequency). Beneficial psychotropic effect was observed in 9 patients (69%). Adverse effects occurred in 2 patients (15%). Headache, vertigo, sleepness were observed in one case. Rash occurred in 1 patient (treated with LTG and VPA). After 6 months 3 patients were excluded from the study because of negative effects of treatment. LTG is helpful and well tolerated in drug-resistant epilepsy.

Adolescent↗
PubMedDate not supplied

[A case of Steel-Richardson-Olszewski syndrome].

A case of Steele-Richardson-Olszewski disease is reported calling attention to diagnostic difficulties in cases of chronic dementia with neurological signs. The authors propose including therapy with antiviral and antiparkinsonian drugs in S-R-O disease. The presented case confirms the effectiveness of this treatment.

Aged↗
PubMedDate not supplied

[A case of sporadic hypokalemic form of familial periodic paralysis].

A case is reported of sporadic hypokalemic form of periodic paralysis, calling attention to the presence of certain rare signs, that is bilateral facial palsy and speech disturbances. The most modern reports on the aetiology and pathogenesis of periodic paralysis are discussed.

Adult↗
PubMedDate not supplied

[A case of periodic hypersomnia in a 14-year-old boy].

A 14-years-old boy is reported with paroxysmal sleep disturbances associated with bulimia. Despite absence of EEG verification it seems that it was Kleine-Levine syndrome developing probably after cranial trauma.

Adolescent↗
PubMedDate not supplied

[Current problems in myotonic dystrophy].

Myotonic dystrophy (m.d.) is an autosomal dominant multisystem disorder involving muscles, brain, heart, eye, endocrine system, alimentary and respiratory systems. M.d. is the most frequent cause of muscle dystrophy. Unstable CTG trinucleotide repeat at 3' untranslated end of the myotonic protein kinase gene on chromosome 19q 13.3 is the molecular basis of the disease. Normal length of CTG trinucleotide repeat is 5-40. Molecular mechanism of the myotonic dystrophy is discussed. Cataract, heart dysfunction, endocrine organs dysfunction, gallbladder stones, impotence are characteristic changes in patient with m.d. Apathy, drowsiness, sometimes dementia point to central nervous system involvement. Clinical course, correlation between CTG expansion and clinical manifestation are described. Nowadays progress in molecular genetic allows to make the diagnosis by DNA examination. Prenatal diagnosis is also possible.

Chromosomes, Human, Pair 19↗