Spinocerebellar ataxia is a hereditary neurological disorder with heterogeneous features. Cerebellar ataxia is frequently seen together with cerebellar and non-cerebellar symptoms. Celiac disease (CD) is known to be associated with neurologic and psychiatric disorders including cerebellar ataxia, peripheral neuropathy, epilepsy, dementia, and depression. In this study, we illustrate a 30-year-old female patient with Friedrich's ataxia (FA) who came to our clinic with chronic backache and eventually diagnosed with Ankylosing Spondylitis (AS) and celiac disease (CD). She had no gastrointestinal symptoms. It remains unclear whether gluten sensitivity contributes to the pathogenesis of these disorders or whether it represents an epiphenomenon. Diagnosis of ataxia, AS and CD diseases coinciding in a patient will be clarified by the unanswered questions of immunopathogenesis of these diseases.
Abstract:Introduction: Neurofibromatosis (NF) is an autosomal dominantly inherited disease, classified as NF type 1 (von Recklinghausen disease) and type 2 (NF2). Palindromic rheumatism can be characterized either by permanent deformity or rapid arthritic or para-arthritic attacks that do not cause radiographic changes. These attacks can continue for hours, days, or weeks. Case Report: A 59-year-old female presented with diffuse pain and joint swelling attacks that had prevailed for one year. Many soft neurofibromas were observed on her body, with skin-colored palpations ranging in size from 0.5 to 5 cm. Brown, mm-sized, axillary freckles were observed on both her underarms. There were five cafe-au-lait spots on abdominal trunk. Diffuse sensitivity and swelling was observed on both wrists. She had thoracolumbar kyphoscoliosis and macrocephaly. Conclusion: Palindromic rheumatism in a NF has rarely been reported.
Background: Osteonecrosis (ON) is a complex disease, and has been rarely reported. Vascular failure, metabolic changes, and sub-chondral fractures play an important role in the pathogenesis of ON. Case Report: Here, we present a case of 54-year-old male with knee osteonecrosis following a one month course of steroid therapy. Conclusion: Non-traumatic ON is a clinical case that occurs in rheumatologic and hematologic diseases depending on the chronic use of glucocorticoids. Additionally other underlying risk factors should be considered as seen in our case. If it is not diagnosed early, it can cause serious joint deformities and disabilities. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (creativecommons.org/licenses/by/3.0) Conflict of interest: None declared | Source of funding: Nil | DOI: http://dx.
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