2005, Vol 5, No 3
Metachromatic leukodystrophy (MLD). Description of case with late form of disease
Aktualn Neurol 2005, 3 (5), p. 213-218

Metachromatic leukodystrophy (MLD) is one of the genetically conditioned diseases of autosomal recessive inheritance, and is characterized by arylsulphatase A deficiency (ARSA) and the accumulation of metachromatic deposits (sulphatides) in the nervous system and internal organs. As a consequence, defuse demyelinisation in the brain and peripheral nerves take place. There are 4 clinical forms that vary by the age at onset: early infantile form, late infantile form, juvenile form and late-onset form. Reduction of the activity of ARSA is the result of the disorder of the gene placed on the long arm of chromosome 22.13. The disturbances can have the character of mutation, deletion or nonsense mutation. Neurochemical research has enabled the isolation of sulphatase from the insufficiency of ARSA activity, being the result of the insufficiency of several kinds of sulphatase and the consequence of the ARSA protein activator insufficiency. The basic diagnostic criteria are the revealing of the presence of metachromatic deposits or increased content of sulphatides in cells and in systemic fluids, and also proving a significant decrease of ARSA activity in leukocytes (of the culture of fibroblasts and in urine). In the clinical picture, polyneuropathy, muscular weakness, muscle hypotomy, astigmatism, speech impairment of the type dysartia, bulbar signs, optic nerve atrophy, intellectual function impairment and epileptic fits usually are dominant symptoms. There are no known effective treatment methods. One can only hope that therapeutic progress will be achieved in the field of gene therapy. 

Keywords: metachromatic leukodystrophy, arylsulphatase A, metachromatic deposits – sulphatides
Successful treatment of drug-resistant status epilepticus – a case report
Aktualn Neurol 2005, 3 (5), p. 209-212
The 18-yer-old woman was transferred to the Department of Neurology from a psychiatric ward. She had 16-yer history of epilepsy with complex partial seizures with secondary generalisation. Cause of epilepsy – unknown. There had been several hospitalisations because of drug resistance and two episodes of status epilepticus partial seizures secondarily generalised. In October 2003 her seizures increased in frequency and were accompanied by behavioural abnormalities. A change of antiepileptic drug /AED/ therapy did not improve seizure control. He patient was hospitalised in the neurological and psychiatric wards and was then admitted to the Department of Neurology where she was developed status epilepticus. Neurological examination revealed asymmetry of the tendon reflex L>R. Brain CT scan was normal. 
The treatment used to resolve status epilepticus included maximum recommended doses of diazepam, clonazepam, valproate solium, phenytoin, phenobarbital, lidocaine, midazolam and 2-days thiopental-inducted coma. The patient was fed through a tube and the formerly used AEDs: TGB, VPA, TPH were continued. Despite this therapy the patient experienced up to 50 seizures daily with an upward rolling of the eyes, blinking, salivation, bradycardia, mouth movements, shoulder jerks and head bend. EEG revealed generalised seizure pathology and CSF analysis showed increased protein levels. Administration of propofol intravenously and levetiracetam through the tube resulted in seizure termination within an hour and improved EEG recording. The propofol therapy caused decreases in arterial blood pressure, witch required a 4-day administration of presser amines. 
On treatment day 14, the patient was extubated. Her neurological status was good, with no intellectual regression. The patient remained seizure – free for 4 weeks. 
Keywords: status epilepticus, refractory status epilepticus, treatment, propofol treatment
Status epilepticus. Clinical characteristics and management
Aktualn Neurol 2005, 3 (5), p. 200-208

Status epilepticus (SE) is a life-threatening emergency in which continuous or recurrent seizures, lasting more than 30 minutes without full recovery of consciousness between seizures occur. Seizures activity lasts more than 60 minutes and fails to respond to appropriate first-line drug treatment in refractory SE. SE is divided into convulsive and non-convulsive. It may occur in the patients with epilepsy (with low antiepileptic drug serum level), or it may be a symptom of acute (organic or metabolic) lesion of CNS. Management in SE should provide: regular functioning of the respiratory and cardiovascular systems, suppressing seizure activity, compensating metabolic disturbance and then diagnosis and casual treatment. The benzodiazepines followed by phenytoin are the first-line drug. Next, other drugs and finally general anesthesia with using barbiturate or unbarbiturate anesthetic agents. EEG performs an important part in diagnosis and monitoring of SE, especially in refractory SE, where medications are administered to achieve a burst suppression pattern on EEG. Every epileptic seizure, lasting more than 10 minutes, should be considered as a potential status epilepticus. 

Keywords: status epilepticus, refractory status epilepticus, benzodiazepines, general anesthesia, EEG
Homocysteine as a risk factor of vascular damage
Aktualn Neurol 2005, 3 (5), p. 194-199

Physiologic role of homocysteine, one of sulfur-containing amino acids, is fairly well understood. During the last few years we are witnessing a trend to correlate hyperhomocysteinemia with blood vessel damage and pathogenesis of atheromatosis. Its role as a risk factor in cerebrovascular accidents (CVA) has been highlighted. In 100 patients with ischemic brain stroke, confirmed by neuroimaging studies (CT and/or MRI) and Doppler sonography of cerebral arteries, we have determined serum levels of homocysteine, vitamin B12 and folic acid. The same tests were performed in 40 controls with no pyramidal signs. Our results show a significant elevation of homocysteine level in CVA patients. In 28% of patients, the difference as compared with the control group was significant, thus indicating that hyperhomocysteinemia may constitute an independent risk factor for stroke. Sonography revealed the presence of vascular lesions and the number of vessels involved, while CT and/or MRI studies visualized areas of brain ischemia. High level of homocysteine did not correlate directly with the number of vessels involved. Noteworthy is that elevated homocysteine level may be controlled by supplementation with group B vitamins and folic acid. The level of homocysteine may be elevated in such neurologic diseases as dementia and Parkinson’s disease. Another noteworthy issue is hyperhomocysteinemia associated with prolonged administration of antiepileptic drugs in persons with epilepsy. 

Keywords: hyperhomocysteinemia, ischemic stroke, risk factors, Doppler sonography of cerebral arteries, neuroimaging studies (CT, MRI)
Stroke – secondary prevention
Aktualn Neurol 2005, 3 (5), p. 189-193

Stroke prevalence, mortality and disability rates are connected with stroke recurrence. Recurrent stroke occurs in 10-12% of patients during first 12 month after stroke onset and in 5-8% of patient each next year. The risk of death and higher degree of disability is higher among the patients with recurrent stroke that in patient with first ever stroke. Prophylactic treatment is the most important management in stroke patients. Risk factors may directly influence incidence or indirectly the natural course of disease. Among reversible risk factors the most important are: hypertension, heart disease, diabetes, smoking, diet and low physical activity. In the last years the results of experimental and clinical studies indicate that high level of homocysteine may be the new modificable risk of vasogenic brain injury. Modification of stroke risk factors together with antiplatelet or anticoagulant therapy had major influence on decrease of stroke mortality in Western Europe and USA, where not only stroke incidence dropped down, but also strokes become less severe. In Poland prevalence of stroke risk factors is high and proper preventive treatment is definitively not enough prescribed. The article presents the principles of secondary prevention stroke in ischaemic stroke.

Keywords: stroke, stroke risk factors, stroke prophylaxis, antiplatelet treatment, antithrombotic treatment
Congophilic angiopathies
Aktualn Neurol 2005, 3 (5), p. 183-188
Congophilic angiopathies (CAA) are a group of neurodegenerations caused by amyloid deposition in the vessel walls. Amyloids are molecularly different and, as in all amyloidoses, CAA may be hereditary caused by mutations in a precursor for a given amyloid or sporadic of unknown cause. “Amyloid” is a generic terms to define diverse proteins of common physicochemical properties. In particular, they are congophilic (stained with Congo red), they fluorescent following staining with thioflavin S and they are composed of fibrils which are visible under transmission electron microscope. 
In this review we will cover: 
- dementia of BRI family: 
- familial British dementia, FBD (peptide ABri), 
- familial Danish dementia, FDD (peptide ADan); 
- hereditary cerebral haemorrhage with amyloidosis, Dutch type, HCHWA-D (peptide Ab); 
- hereditary cerebral haemorrhage with amyloidosis, Icelandic type, HCHWA-I (cystatin C); 
- CAA associated with Alzheimer disease (peptide Ab); 
- familial Finnish amyloidosis (gelsolin). 
Keywords: congophilic angiopathies, familial British dementia, familial Danish dementia, familial Finnish amyloidosis, amyloid
Loss of heterozygosity in paediatric embryonal brain tumours
Aktualn Neurol 2005, 3 (5), p. 171-182

Embryonal tumours, the most common group of malignant solid tumours in children consist about 12-25% of all brain tumours of childhood. The most frequent types are: medulloblastoma (MB), supratentorial primitive neuroectodermal tumour (sPNET) and atypical teratoid/rhabdoid tumour (AT/RT). The loss of genetic material in embryonal tumours is the most often described abnormality, which may be confirmed by loss of heterozygosity analysis (LOH). This method is used to identifying regions harboring putative suppressor genes. 35 children (18 male and 17 female), aged from one year to 13 years were included in this study. There were 26 MB, six sPNETs and three AT/RTs. DNA isolated from tumour tissues and blood samples (control) was amplified in polymerase chain reaction (PCR) with polymorphic markers. Molecular analyses were performed for 35 primary and 12 recurrent tumours. LOH was found in 21 primary tumours (60%). In 14 cases no alteration for all analysed region was confirmed. LOH was detected most often on chromosomes 17p, 22q and 10q. There was no alterations on chromosomes 1p, 1q and 5q. Progression of the molecular changes occurred in one case of recurrent medulloblastoma. LOH on 10q and 17p was found in both primary and recurrent tumour, while losses on 16p and 16q occurred only in the recurrent tumour. The occurrence of LOH in the particular types of tumours is quite different and not specific. Progression of molecular changes in recurrent tumors is rare event and could be connected with radiotherapy. 

Keywords: AT/RT, embryonal brain tumours, medulloblastoma, sPNET, loss of heterozygosity