RESUMEN
Pilocytic astrocytoma with leptomeningeal dissemination is a rare phenomenon and can be associated with obstructive hydrocephalus and an unfavorable prognosis. Herein, we report a seventeen-year-old boy with a history of ventriculo-peritoneal shunt insertion due to severe hydrocephalus who presented with progressive headache and vomiting together with ocular and cerebellar signs and symptoms. Neuroimaging confirmed the presence of multiple intracranial masses in the cerebellum and thalamus. Intracranial dissemination of tumor to the the leptomeninges was seen during neuroendoscopy. Simultaneous biopsy and endoscopic third ventriculostomy were performed and the diagnosis of low-grade pilocytic astrocytoma with leptomeningeal dissemination was made by histological examination. The patient underwent chemotherapy in combination with radiotherapy to reduce the risk of reoccurrence of the primary tumor and was followed for one year.
Asunto(s)
Astrocitoma/patología , Neoplasias Encefálicas/patología , Neoplasias Meníngeas/secundario , Adolescente , Astrocitoma/tratamiento farmacológico , Astrocitoma/radioterapia , Astrocitoma/cirugía , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirugía , Humanos , Hidrocefalia , Masculino , Neoplasias Meníngeas/tratamiento farmacológico , Neoplasias Meníngeas/radioterapia , Neoplasias Meníngeas/cirugía , Neuroendoscopía , Derivación Ventriculoperitoneal , VentriculostomíaRESUMEN
PURPOSE: This study was performed in 24 members of a family with spontaneous pneumothorax to test clinical suspicion of Birt-Hogg-Dubé syndrome (BHDS). METHODS: Computed tomography scan was performed for confirmation of pneumothorax, while genetic tests were done using real-time quantitative polymerase chain reaction. RESULTS: Genetic studies showed a deletion of exon 1 in the FLCN gene in the index case as well as nine other individuals, including two with clinical phenotypes of pneumothorax and seven who are symptom-free to date. CONCLUSIONS: Proper imaging and taking accurate family history could be the keys to test clinical suspicion in some syndromes, including BHDS.