Search results for "misdiagnosis."
showing 4 items of 4 documents
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs
2018
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by a galactosidase A (a-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes a-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involv…
Poor patient awareness and frequent misdiagnosis of migraine: findings from a large transcontinental cohort.
2019
Background and purpose Although migraine is the second most disabling condition worldwide, there is poor awareness of it. The objective was to assess the awareness of migraine and previous diagnostic and therapeutic consultations and treatments in a large international population of migraineurs. Methods This was a multicentre study conducted in 12 headache centres in seven countries. Each centre recruited up to 100 patients referred for a first visit and diagnosed with migraine. Subjects were given a structured clinical questionnaire-based interview about the perceptions of the type of headache they suffered from, its cause, previous diagnoses, investigations and treatments. Results In all,…
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
2022
Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound h…
Familial Trichostrongylus Infection Misdiagnosed as Acute Fascioliasis
2015
To the Editor: Human fascioliasis, infection with Fasciola spp. flukes, is highly pathogenic in both acute and chronic phases and can result in death (1). This disease has been recently emerging, in part linked to climate and global changes (2). Human Fasciola infection has been reported in 5 continents and is related to the disease’s wide spread in livestock. Guilan Province in northern Iran is a fascioliasis-endemic area where the largest human epidemics have occurred, together affecting ≈15,000 persons (3). In 2014, 3 sisters (ages 35, 33, and 38) and their 41-year-old brother (patients 1–4, respectively) sought medical care at the same time, all with a 3-week history of symptoms. The pa…