This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. The meningeal signs were equivocal, although the patient had noninfectious pleocytosis, intracranial hypertension, delayed radioisotope clearance on cisternography, and multiple old cerebral infarcts. Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache. Although its mode of action remains obscure, prednisolone was effective for treating the headache and the aseptic meningeal reaction.Key words: Fabry's disease, headache, aseptic meningeal reaction, corticosteroid treatment, intracranial hypertension, multiple cerebral infarction (Headache 1995;35:498-501) X-linked Fabry's disease is caused by mutations of the a-galactosidase A gene located at Xq22. 1,2 The enzymatic defect results in the systemic accumulation, primarily in the plasma and in vascular endothelial lysosomes, of glycosphingolipids, including globotriaosylceramide, digalactosylceramide, and blood group B substance. 1-3 This leads to the major clinical manifestations of the disease that include the onset of pain crises in the extremities (acroparesthesias), angiokeratoma, hypohidrosis, corneal opacities, and progressive vascular diseases in the kidney, heart, and central nervous system. 2,3 The cerebrovascular manifestations such as thromboses, transient ischemic attacks, aneurysm, and cerebral hemorrhage that result from the primary involvement of multifocal small vessels are well known. 4-7 However, the headache and aseptic meningeal reaction in this disorder is poorly understood.We present a juvenile patient with Fabry's disease whose initial symptoms were headaches associated with aseptic meningeal reaction, but with no painful crises in the extremities. The first trial of treating these unusual Fabry's disease symptoms with a corticosteroid was successful.
CASE HISTORYThe patient is an 18-year-old boy who was healthy until 2 years before evaluation, when he began having headaches. These varied in degrees, lasted from a few hours to several days, occurred one to three times a month, and did not respond to nonsteroidal anti-inflammatory drugs. The headache was usually bilateral, nonpulsating, and did not worsen by walking up stairs. Although only occasional, he had several episodes of throbbing headache with vomiting without aura. Cranial CT scans performed 2 months after the onset of headaches, led to a diagnosis of old multiple cerebral infarcts, but the exact cause of the headache was not established. From age 17, the patient gradually experienced difficulties in running, walking, and writing at a normal speed. His intellectual functions also deteriorated, and he could not finish senior high...