RESUMO
In a family encompassing three generations, six of 11 evaluated members have two or three elements of a triad comprising adrenocortical micronodular dysplasia, mucocutaneous lentigines, and cardiac myxomas. Evaluation of the adrenals in affected members revealed characteristic pathologic lesions of micronodular adrenal hyperplasia and corticotropin-independent steroidogenesis that correlated with age, suggesting a progressive lesion that begins in early childhood. Since all subjects with micronodular hyperplasia and/or cardiac myxomas also had mucocutaneous lentigines, the skin lesions were markers for affected subjects. This family is one of the larger reported with this syndrome. Of special note was the finding of rare visceral tumors in affected family members, including melanocytic schwannomas and a fibrolamellar hepatoma, signaling another feature of the syndrome. Since 60% of this family encompassing three contiguous generations were affected, the syndrome appears to be inherited as an autosomal or X-linked dominant gene.
Assuntos
Doenças do Córtex Suprarrenal/genética , Síndrome de Cushing/genética , Neoplasias Cardíacas/genética , Mixoma/genética , Neoplasias Primárias Múltiplas/genética , Transtornos da Pigmentação/genética , Adolescente , Adulto , Criança , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Feminino , Genes Dominantes , Humanos , Masculino , Melanoma/genética , Pessoa de Meia-Idade , Linhagem , SíndromeRESUMO
This 32-year-old man had noticed right leg pain for 4 years and developed classic right sciatica after heavy lifting, followed by episodes of buckling of both legs 1 month prior to admission. His medical history included congenital left abducens palsy. Examination revealed a right Lasègue's sign and Fajersztajn's sign with mild weakness of the right extensor hallucis longus. Magnetic resonance imaging revealed a 1.5 x 2.0-cm enhancing intradural lesion at the L3-4 level. Following laminectomy of L-3 and L-4 and intradural exposure, the tumor was found to be draped loosely by the roots of the cauda equina and attached to a single root without any adherence to dura. Transection of the adherent fascicles and typical microdissection of arachnoidal filaments permitted its complete removal without violation of the capsule, allowing the preservation of a large fascicle. The patient's recovery was uneventful. Postoperatively, a mild right lateral foot hypalgesia and diminution of the right ankle jerk implicated the S-1 root. Histological and immunohistochemical analyses diagnosed the specimen as a clear cell meningioma.
Assuntos
Dura-Máter/patologia , Neoplasias Meníngeas/patologia , Meningioma/patologia , Adulto , Humanos , Imuno-Histoquímica , Região Lombossacral , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/metabolismo , Meningioma/diagnóstico , Meningioma/metabolismo , Raízes Nervosas Espinhais/patologiaRESUMO
A 58-year-old postmenopausal woman with primary ovarian serous carcinoma presented with the syndrome of inappropriate antidiuresis (SIAD). Preoperative workup showed serum sodium level of 110 mEq/liter and antidiuretic hormone level of 3.3 pg/ml. The serum and urine osmolarity were 239 and 371, respectively. Antidiuretic hormone was demonstrated in tumor cells by immunohistochemistry. To the best of the authors' knowledge, this represents the first case of SIAD due to primary ovarian tumor.