Rett syndrome (RTT) is a neurodevelopmental disorder in which a period of normal development is followed by regression of previously acquired skills. RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it is not a female-only disorder as cases of males with similar phenotype were reported. RTT was considered lethal in males as it has an X-linked dominant inheritance. The purpose of this review is to report a case of RTT in young male and elaborate genetics and phenomenology of this disorder in males.
Giant cell arteritis (GCA) or temporal arteritis (TA) is a granulomatous inflammation of medium to large-sized arteries. It may have a diverse presentation. The most common presenting symptoms of GCA are fever, malaise, unilateral headache, jaw claudication, polymyalgia rheumatica (PMR) and ophthalmoplegia. Most severe sequelae of GCA could be blindness. We report a case of a 65-year-old Caucasian male who presented for the third time with recurrent episodes of diplopia. Neurologic exam showed bilateral cranial nerve (CN) VI palsy, slightly worse on the right than the left side. Other focal neurological deficits were absent. GCA was considered and biopsy of the temporal artery was performed which showed necrotizing pan-arteritis, consistent with GCA. The patient was empirically treated with intravenous (IV) methylprednisolone while awaiting the biopsy results which resulted in the resolution of the symptoms. As far as we know, this is the second case in the literature about the bilateral sixth CN involvement in the background of GCA.
Neuropathies can occur in patients with diffuse large B-cell lymphoma (DLBCL) at any stage of the disease as a presenting symptom or during later stages of illness. A wide spectrum of neurological association is known to occur with DLBCL, ranging from cranial nerve palsies to peripheral neuropathies. Evaluation of cranial and peripheral neuropathies in patients with DLBCL requires meticulous clinical, imaging, and electrodiagnostic testing. A 75-year-old right-handed female with a known history of multiple cranial neuropathies and DLBCL presented with acute dysphagia and upper extremity weakness of one-week duration. On evaluation, she was found to have right vagal nerve palsy. Cerebrospinal fluid (CSF) analysis along with flow cytometry testing showed CD19 and CD20 positive B cells, confirming neoplastic infiltration of CSF. We describe the case and review the literature of the association of cranial nerve palsies with DLBCL.
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