RESUMO
Alveolar rhabdomyosarcoma (ARMS) has a predilection for the peripheral extremities, and brain metastases are rare, with only a few cases reported after the initial diagnosis. We present a 22-year-old male patient with a right orbital-ethmoidal ARMS who presented with a recurrence to the brain 1 year after the initial diagnosis. He was referred to our institution due to acute neurological deterioration. A brain MRI was performed, showing an enhancing bilateral parafalcine lesion centred about the bilateral cingulate gyri with extension into the corpus callosum. The patient was taken to the operating room for a stereotactic biopsy under general anaesthesia, which was compatible with metastatic ARMS. Our case is exceedingly rare, considering the initial diagnosis of an orbital/ethmoidal ARMS, its subsequent metastasis to the brain and its clinical sequelae after a biopsy. Prognosis after cerebral metastatic ARMS is dismal, with most patients expiring due to central nervous system metastatic disease.
Assuntos
Neoplasias Encefálicas , Rabdomiossarcoma Alveolar , Rabdomiossarcoma , Adulto , Encéfalo/diagnóstico por imagem , Neoplasias Encefálicas/diagnóstico por imagem , Humanos , Masculino , Recidiva Local de Neoplasia , Rabdomiossarcoma Alveolar/diagnóstico por imagem , Adulto JovemRESUMO
BACKGROUND: This is a case of a man aged 40 years with a past medical history of smoking, hypertension, polycythemia vera, intellectual disability, and schizophrenia who presented with generalized headaches, progressive loss of balance, and visual disturbance for 1 month. CASE DESCRIPTION: Head computed tomography and magnetic resonance imaging revealed a right cerebellar hematoma associated to heterogenous lesion with cystic components and flow-voids in the right cerebellar hemisphere. A ventriculoperitoneal shunt was placed with partial improvement of symptoms. Further vascular studies confirmed presence of a vascular nidus with significant arteriovenous shunting. The patient later required intervention for cerebellar arteriovenous malformation (AVM) removal. Microscopic evaluation of the lesion showed the AVM nidus, as well as large, vacuolated stromal cells and numerous thin-walled vessels. Immunostaining with inhibin and S-100 highlighted the stromal cells with numerous lipid-containing vacuoles. The earlier mentioned findings were consistent with the diagnosis of an AVM with coexistent hemangioblastoma of the right cerebellar hemisphere. CONCLUSIONS: Coexistence of hemangioblastomas and AVMs are extremely rare, and only 3 cases have been reported previously in the literature.
Assuntos
Fístula Arteriovenosa/complicações , Doenças Cerebelares/complicações , Neoplasias Cerebelares/complicações , Hemangioblastoma/complicações , Malformações Arteriovenosas Intracranianas/complicações , Adulto , Fístula Arteriovenosa/patologia , Doenças Cerebelares/patologia , Neoplasias Cerebelares/patologia , Hemangioblastoma/patologia , Humanos , Malformações Arteriovenosas Intracranianas/patologia , MasculinoRESUMO
We report on the first autopsy performed on a neonate with congenital Zika syndrome in Puerto Rico. A term male was born to a mother with confirmed Zika virus infection; he had a prenatal diagnosis of microcephaly and multiple cerebral calcifications, among other anomalies, and a normal male karyotype (determined by amniocentesis). He required neonatal resuscitation at birth and died at 2 days ofage. At autopsy, his head circumference was only 1.5 standard deviations below the mean, not fulfilling the criteria for microcephaly. He presented scissor legs, clenched and hyperflexed hands, and multiple contractures (arthrogryposis). The central nervous system findings were consistent with Zika encephalopathy: ventriculomegaly, lissencephaly, and severe encephalic degeneration with numerous dystrophic calcifications, among other findings. These anomalies were most likely secondary to congenital ZV infection. Although prenatally diagnosed with microcephaly, he did not fulfill the criteria after birth, which fact indicates the need for reassessment of the definition of microcephaly as it applies to patients exposed prenatally to the ZV.
Assuntos
Anormalidades Múltiplas/virologia , Microcefalia/virologia , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/congênito , Autopsia , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Porto RicoRESUMO
Inclusion body myositis (IBM) is an inflammatory myopathy that is generally unresponsive to immunosuppressive drugs. The coexistence of IBM with other autoimmune connective tissue diseases is rare. We present a case of a 76-year-old woman with systemic lupus erythematosus (SLE) who developed proximal muscle weakness of lower extremities and mild elevation of serum creatine kinase (CK) at 495 U/L. Muscle biopsy showed changes of endomysial inflammation and rimmed vacuoles consistent with IBM. She was treated with prednisone 40 mg daily and methotrexate 12.5 mg weekly. One month later, her physical examination showed minimal proximal weakness of lower extremities. CK levels decreased to 44 U/L. Prednisone dose was gradually decreased to 5.0 mg daily. She remained stable with normal CK levels during a follow-up period of 10 months. This case, together with other reports, suggests that IBM in the setting of SLE represents a different subtype that can benefit from immunosuppressive treatment.
Assuntos
Imunossupressores/administração & dosagem , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Miosite de Corpos de Inclusão/tratamento farmacológico , Idoso , Feminino , Humanos , Imunossupressores/uso terapêutico , Metotrexato/administração & dosagem , Metotrexato/uso terapêutico , Prednisona/administração & dosagem , Prednisona/uso terapêutico , Resultado do TratamentoRESUMO
Ependymoma is a slowly growing tumor in children and young adults originating from the wall of the ventricles or from the spinal canal that is composed of neoplastic ependymal cells. Tanycytic ependymoma is a rare variant of ependymoma usually arising in the intra medullary spine. The World Health Organization classifies the tanycytic ependymoma as a grade II tumor. The diagnosis of tanycytic ependymoma is challenging since the morphology of the lesions resemble those found in schwannoma and astrocytomas. In the present study, we show a case of a 76 years old male with a progressive paraparesis for 8 years, due to a spinal tumor. Radiological and histological studies were used to classify the tumor as tanycytic ependymoma. Therefore, it is important to be aware of tanycytic ependymoma and its immunohistochemistry profile in older patients, especially within the Caribbean Hispanic population. To our knowledge this is the oldest patient known to have this rare tumor and the first case reported in Puerto Rico.