ROMANIAN JOURNAL OF NEUROLOGY – VOLUME XVII, NO. 4, 2018 200 FABRY DISEASE Ioana Simina Barac 1,2 , Doru Flaviu Tomesc 1,2 , Adina Stan 1,2 , Vitalie Vacaras 1,2 , Fior Dafin Muresanu 1,2 1 Neurology, Department no.10 – Neurosciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania 2 County Clinical Emergency Hospital, 2nd Neurology Clinic, Cluj-Napoca, Romania ABSTRACT Fabry disease is a rare genetic disease involving a deficiency of an enzyme. A decrease in the enzyme activity leads to a selective suffering of specific anatomic and functional structures resulting in heteromorphic clinical signs that increase the difficulty of early diagnosis. Knowing and identifying the clinical signs suggestive for this disease makes it easier to initiate the methods needed for confirming this diagnosis. The introduction of enzyme replacement therapy from the onset, slows down the complications of the disease, im- proves the quality of life and reduces the emotional and mental burden caused by the clinical symptoms. The patient presented in the reported case received clinical explorations according to the data presented in the liter- ature, confirming the diagnosis of Fabry disease, thus enabling to start the therapy as soon as possible and including the patient in the National Program for Fabry disease. Following enzyme replacement therapy, the clinical symptoms and the quality of life were improved. The emotional, mental and physical impact of this disease can be greatly reduced by knowing the clinical signs that allows for the diagnosis and early initiation of the treatment. Keywords: Fabry disease, diagnosis, treatment Author for correspondence: Lecturer Vitalie Vacaras, County Clinical Emergency Hospital, 2nd Neurology Clinic, 43 V. Babes, Street, Cluj-Napoca E-mail: vvacaras@umfcluj.ro CASE REPORTS INTRODUCTION Fabry disease, known as corporis diffuse hu- mangiokeratoma, is a recessive lysosomal disease, X-linked caused by the deficiency of the enzyme α-galactosidase A (1,2). Due to this enzymatic defi- ciency, there is a progressive lysosomal accumula- tion of glycosphingolipids (globotriaosylcer- amide-Gb3), located mainly endothelial and in the vascular smooth muscle, causing a progressive multisystemic damage of the cornea, skin, kidneys, central and peripheral nervous system (amygdaloid nuclei, hypothalamus, substantia nigra, reticular system, nuclei of the brainstem, spinal cord and sympathetic dorsal root ganglia) and heart , through inflammation and fibrosis (2). Globally, the preva- lence of Fabry disease is estimated to be between 0.85 and 2.5 cases per 100,000 inhabitants (1). The onset of symptomatology occurs during childhood, with the occurrence of complications at the age of young adult in the absence of replace- ment treatment (2). Clinical manifestations consist of cutaneous an- giokeratomas, neuropathic limb pain in the extrem- ities, acroparaesthesiaes, heat intolerance, anhidro- sis, premature cerebrovascular complications, renal insufficiency and hypertrophic cardiomyopathy due to progressive vasculopathy and small fibers neuropathy, which in turn are caused by the accu- mulation of glycosphingolipids in the endothelial cells (2,3). In the disease progression, a degree of motor dysfunction is validated, involving the gait, the speed of execution of the fine movements and their precision, in correlation with the severity of the dis- ease (3). Motor involvement may be due to small fiber neuropathy, lesions of the neurons in the brainstem or cerebrovascular damage (3). On a MRI evaluation, T2 sequence shows hy- perintense lesions, located periventricular, in the Ref: Ro J Neurol. 2018;17(4) DOI: 10.37897/RJN.2018.4.5