RESUMO
Allergic fungal rhinosinusitis (AFRS) forms a significant group of patients presenting with the commonest health problem encountered in rhinology. Patients commonly present with typical symptoms of sinusitis, and the diagnosis is often made after imaging and/or intraoperatively. Infections caused by Chrysosporium species are very rare and are very rarely been reported to cause sinusitis in humans. Usually, human chrysosporial infections are mild and unmarked by symptoms. We report a rare case of allergic fungal sinusitis (AFS) caused by Chrysosporium species in a 41-year-old male with the history of diabetes mellitus.
Assuntos
Sinusite Fúngica Alérgica , Chrysosporium , Micoses , Sinusite , Masculino , Humanos , Adulto , Micoses/diagnóstico , Micoses/microbiologia , Sinusite/diagnóstico , Sinusite/microbiologiaRESUMO
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.