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Key Clinical Message: Pleomorphic adenoma is a common epithelial tumor but is unusual to involve the nasolacrimal duct and lacrimal sac. Current reported cases are sparse but may be helpful for delineating patterns of malignant transformation in the future. Abstract: This is a report of a 66-year-old patient with a pleomorphic adenoma involving the nasolacrimal duct and lacrimal sac, which is an unusual location for these tumors. To our knowledge, there are scarce publications in the current literature of similar cases.
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The calcium/calmodulin-dependent protein kinase II-beta ( CAMK2B ) gene is important for calcium signaling and glutamatergic synapses, which impacts neuroplasticity and learning. Mutations in the CAMK2B gene, which cause autosomal dominant mental retardation 54 (Online Mendelian Inheritance in Man # 617799), can have multisystemic clinical impact. Due to the rarity of CAMK2B mutations at present, case reports about patients with CAMK2B mutations are limited. The present case report describes a patient with CAMK2B -related disorder confirmed by whole exome sequencing and adds to the current information in the literature. We review three case reports in literature with detailed descriptions of patients presenting with mutations in the CAMK2B gene. While there is a broad spectrum of phenotypic presentations, there appears to be an emerging neurobehavioral phenotype. Optimal management of patients will require attention to behavioral issues as well as involvement of neuropsychiatric expertise along with other supports for development and vision abnormalities.
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NUT midline carcinomas are rare, aggressive, and poorly differentiated tumors that must be considered in the differential diagnosis of midline head and neck tumors. Despite the scarce data, proton therapy could be an option for some patients.