Background This case study documents the first familial case of Blau syndrome (BS) in Palestine characterized with mutation in CARD15/NOD2. Case presentation Eighteen years old female was initially misdiagnosed with Juvenile idiopathic arthritis (JIA). The patient had been on steroids and methotrexate treatment for the last 16 years, but did not respond well to treatment. Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. The patient’s sister (aged 19 years) had bilateral intermediate uveitis and camptodactyly. Both eyes of their father had signs of old posterior uveitis. Father’s left eye showed 360 degrees posterior synechia, mature cataract with old Keratic precipitates (KPs). He also had camptodactyly. The patient was referred to pediatric rheumatologist to rule out sarcoidosis. Lung CT scan showed bronchiectasis, genetic consultation followed. Complete eye examination, full history, refraction, and Optical coherence tomography (oct) were done. Systemic and topical steroid therapy could not control the ocular inflammation. The family then was referred to a geneticist. Genetic analyses showed that the proband and all three family members had an R334q mutation in the CARD15/Nod2 gene. Conclusions BS should be considered in the differential diagnosis of childhood uveitis, especially in low and middle income countries where it is misdiagnosed in many cases, which delay appropriate diagnosis and thus control. Genetic analysis of the CARD15/Nod2 gene is helpful in the diagnosis. Steroids alone are not enough to control the disease, other immunosuppressants and biologics are needed.
Cranial nerve neuropathy could be a part of neurological spectrum of COVID-19 disease. Research suggests SARS-CoV-2 infection can trigger an aberrant immune response in some individuals, causing inflammatory nerve damage leading to anosmia and neuropathy. We report here a 50-year-old female patient who presented to the outpatient clinic in Saint John Eye Hospital with a two months history of binocular, horizontal diplopia five days after recovery from SARS-CoV-2 infection, PCR positive test obtained by a nasopharyngeal swab on April 1st, 2021 with upper respiratory tract symptoms. The patient was diagnosed with bilateral abducens nerve palsy. The main cause was presumed to be post-viral as the patient had controlled diabetes “HBA1C: 7%” and had no pre-existing microvascular risk factors. Diplopia still exists after two months of bilateral abducens nerve palsy. Measurements confirmed bilateral limited abductions in both eyes with right or alternating convergent squint. This case report supports the hypothesis that direct or indirect virally mediated injuries along the routes of the cranial nerves can cause neuropathy and olfactory dysfunction. The longer latency effects of COVID-19 infection are not well understood. This case report aims to raise awareness amongst clinicians of coronavirus-induced neurological symptoms
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