A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.

Lafora disease is a severe form of progressive myoclonic epilepsy with autosomal recessive inheritance diagnosed by inclusion body in biopsy. A 26-year-old woman was admitted due to complaints of frequent twitches and fainting. The 0.5x0.3x0.3 cm axillary skin punch biopsy was subjected to routine histopathological evaluation. Cytoplasmic PAS-positive inclusion bodies were observed at the basal side of the eccrine and apocrine glands. The diagnosis of Lafora disease can also be made by the observation of the polyglycosan cytoplasmic inclusion bodies in the brain, liver and skeletal muscle biopsies. Although we need more work to understand the etiopathogenesis of Lafora disease, we would like to draw attention to the importance of skin biopsy in the differential diagnosis of young patients with clinically refractory epilepsy, myoclonus, and cognitive decline.

Relationship between restless leg syndrome and quality of life in uremic patients.

OBJECTIVES: Patients with RLS suffer nonrestorative sleep, daytime sleepiness, fatigue, and concentration problems. In addition, dialysis itself effects the psychological and social life of the patient negatively. The aim of this study was to determine the prevalence of RLS in patients on regular hemodialysis, and its relationship with patients' quality of life, socio-demographic and laboratory data. METHODS: One hundred and eighteen stable chronic hemodialysis (HD) patients referring to the hemodialysis unit of Turkish Kidney Foundation and 49 patients that met IRLSSG diagnostic criteria were included into the study. IRLSSG Diagnostic Criteria and International Restless Leg Syndrome rating scale were used as a guideline to diagnose and evaluate the severity of RLS. Short form-36 health survey was used to evaluate the quality of life. For statistical analysis, the "SPSS for Windows" package program was used. RESULTS: A total of forty-nine patients, of whom 26 were female and 23 were male, that met IRLSSG diagnostic criteria were included into the study. Mean age of the patients was 61.35 ± 13.17 years. There was a negative correlation between the IRLSS score and SF36 Physical Score, Mental Score and Total Score, respectively (p=0.018 r=-0.351, p=0.01 r=-0.380, p=0.00 r=-0.499). There was no significant correlation between the IRLSS score and dialysis duration, blood ferritin and parathyroid hormone and other comorbid diseases. CONCLUSION: RLS is a common distressing problem in patients with ESRD, which negatively impacts functional health status. Clinicians should be aware of the symptoms of RLS to decrease morbidities related with quality of life.

Primary orthostatic tremor: analysis of three cases.

Primary orthostatic tremor (POT) is a rare form of tremor characterized by unsteadiness and quivering of lower extremities while standing. These symptoms relieve when sitting or reclining It is much less apparent when leaning against an object or during walking. The rhythmic tremor activity with a frequency of 13-18 Hz can be obtained electromyography recordings. Here we report three cases that have typical clinical and electrophysiological findings of POT.

Cranial magnetic resonance imaging findings in patients with migraine.

OBJECTIVE: To investigate the frequency of cranial magnetic resonance imaging abnormalities in patients with migraine and their relationship to type, duration, and frequency of migraine attacks. METHODS: Forty-five patients (43 women, 2 men) with migraine whose ages ranged between 19 and 53 years (mean, 40.91 [SD, 7.69]) were evaluated. Of the 45 patients, 20 had migraine with aura and 25 had migraine without aura, according to the diagnostic criteria of the International Headache Society. RESULTS: In 13 (28.8%) of 45 patients, white matter foci were present on magnetic resonance imaging. Eight of these patients (61.5%) had migraine with aura, and 5 patients (38.4%) had migraine without aura. The presence of white matter foci was significantly higher in the patients with aura (8 [40%] of 20) than in those without aura (5 [20%] of 25). It was found that as the frequency of attacks per month increased, the number of patients with white matter foci also increased. Although the mean duration of migraine was longer in patients with white matter foci (149.5 months [SD, 87.9]) than in those without white matter foci (134.1 months [SD, 88.3]), there was no significant difference (P >.05). CONCLUSION: Although there are no specific magnetic resonance imaging findings peculiar to migraine, detection of white matter foci should be taken into consideration in patients with migraine (especially migraine with aura). Frequency of attacks is an important indicator of existence of white matter foci.