RESUMO
In this paper, first time a rare case of solitary metastasis of papillary carcinoma of thyroid in the kidney diagnosed by fine needle aspiration cytology has been described.
Assuntos
Carcinoma Papilar , Neoplasias da Glândula Tireoide , Biópsia por Agulha Fina , Carcinoma Papilar/diagnóstico , Carcinoma Papilar/patologia , Humanos , Câncer Papilífero da Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/patologiaRESUMO
Menkes disease is a neurodegenerative metabolic disorder. It is an X-lined recessive disorder of copper metabolism. It is characterized by seizures, developmental delay with loss of achieved milestones, along with skin and hair changes. We present such a genetically proven case of Menkes disease in a 17-month-old boy with seizures, cyanosis, and dyspnea. On evaluation, the child had low serum copper and ceruloplasmin. Magnetic resonance imaging revealed diffuse atrophy of the cerebrum, cerebellum with tortuosity of intracranial vessels. Autopsy confirmed the imaging findings along with dense gliosis, myelin loss, and significant loss of neurons in the cortex. Cerebellum showed aberrant dendritic arborization, somal sprouts, and axonal torpedoes within the Purkinje neurons. This report illustrates the classical presentation of in a genetically proven case of Menkes disease at autopsy, which has not been described in the recent literature.
Assuntos
Encéfalo/patologia , Síndrome dos Cabelos Torcidos/patologia , Autopsia , Humanos , Lactente , MasculinoRESUMO
Cytodiagnosis of metastatic neuroblastoma presenting as subcutaneous swellings.
Assuntos
Neoplasias/diagnóstico , Neoplasias/patologia , Biópsia por Agulha Fina/métodos , Citodiagnóstico/métodos , Feminino , Humanos , LactenteRESUMO
A 24-year-old woman visited the Ear Nose Throat (ENT) outpatient department with complaints of hoarseness for 2 months not responding to conservative management. Laryngoscopic examination revealed a whitish ulceroproliferative lesion in the anterior commissure and anterior two-thirds of bilateral true vocal cords with surrounding necrosis. In view of the above findings, the patient was planned for biopsy under general anaesthesia. Intraoperative findings showed multiple whitish necrotic friable tissue involving anterior two-thirds of bilateral false vocal cords, ventricle, bilateral true vocal cords, both aryepiglottic folds and laryngeal surface of epiglottis. Postoperative histopathology was consistent with tuberculosis. A pulmonology consultation was taken, and the patient was started on anti-tuberculosis chemotherapy. One month post therapy, the voice was symptomatically better. A flexible fibreoptic laryngoscopic examination was done, which revealed almost complete resolution of the lesion with minimal ulceration at the anterior one-third of right true vocal cord.