RESUMEN
INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) encompasses several clinical and neuroimaging phenotypes, including cerebral X-ALD, the most common phenotype in children, and adrenomyeloneuropathy, the most common phenotype in adults. A spinocerebellar variant of X-ALD has been described in individuals from the Far East, but the criteria for its diagnosis are unclear. CASE REPORT: A 35-year-old man from Albania was assessed because of a familial, slowly progressive spastic-ataxic gait associated with neurogenic bladder, sexual dysfunctions, and manic-like behavior. There was no definite clinical feature that suggested cerebellar involvement (eg, cerebellar limb ataxia, nystagmus, and dysarthria). A few months earlier, he had received a diagnosis of Addison disease. Brain magnetic resonance imaging showed a leukoencephalopathy with predominant cerebellum and brainstem involvement, and FDG-PET revealed marked cerebellar hypometabolism. The diagnosis of X-ALD was made because we found an increase of very long chain fatty acids, and a new ABCD1 mutation (c.1627C>T, p.Pro543Ser). CONCLUSIONS: X-ALD should be included in the differential diagnosis of adult leukoencephalopathies with predominant involvement of infratentorial structures, that is, the cerebellum and brainstem. From a classification perspective, our patient (of white origin), like others (all of Asian origin), should be considered as suffering from a variant of adrenomyeloneuropathy rather than from spinocerebellar X-ALD. Actually, the term "spinocerebellar" or similar ones, such as "cerebello-brainstem dominant form," should be limited to those exceptional cases, in which both the clinical and neuroimaging findings point exclusively (or at least predominantly) to the involvement of infratentorial structures.
Asunto(s)
Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP/genética , Adrenoleucodistrofia/diagnóstico , Adrenoleucodistrofia/genética , Cerebelo/patología , Adrenoleucodistrofia/patología , Adulto , Tronco Encefálico/patología , Humanos , Masculino , Sustancia Blanca/patologíaRESUMEN
BACKGROUND: Lightning injuries may produce a variety of medical conditions, and specific neurological complications have been identified, with the character of immediate aftershock effects or even long-term consequences. AIM: The authors describe the incidental finding following a routine unenhanced brain MRI performed to a young female patient, suffering from a headache. CASE REPORT: Diffuse white matter changes with the character of a leukoencephalopathy were seen, which strictly interested only the right cerebral hemisphere. The parents referred that she suffered from an indoor lightning strike at age of seven months, although she survived with almost no external burns or signs, and recovered uneventfully at that time. A discussion over the effects of electrocution and lightning strike on the human body in general, and over the nervous system, is made. Particular attention must be shown when making the differential diagnosis of leukoencephalopathies with a strictly one-hemisphere extension since several other conditions might resemble each other under the radiological aspect, here including brain viral infections, genetic disorders, and so on. CONCLUSION: The particularity of the long-term aftershock effects of the lightning strike on the central nervous system raise again the necessity of collecting data and duly reporting every electrical accident, lightning events included.
RESUMEN
BACKGROUND: Acute Pancreatitis (AP) is an inflammatory pathology with large regional variations in incidence and etiology. AIM: The aim of the study was to provide a description of the epidemiologic situation of AP in Albanian population, regarding incidence, etiology and severity of the disease. METHODS: We have studied all the files of all patients with acute pancreatitis admitted at the UHC 'Mother Theresa" during an eight year period (2005-2012). THE RESULTS: We had 964 admissions with the diagnosis acute pancreatitis, making an incidence of 5.64 per 100 000 inhabitants per year. Mean age of patients was 54.5 ± 16.93 years old. Among risk factors, alcohol consumption was found in 382 patients (39.6%), gallstone in 362 patients (37.6%), and others in 220 patients (22.8%). CONCLUSION: The incidence of acute pancreatitis in Albania ranges from 3.6 - 5.64 new cases per 100 000 inhabitants per year, with an increasing trend during the last years. The incidence of AP among females almost doubles during 2005-2012. Alcohol consumption is the predominating etiologic factor among young males.