First Autopsy of a Newborn with Congenital Zika Syndrome in Puerto Rico.

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.

Rapid Brainstem Infiltration of a Cerebellar Glioblastoma.

A 79-year-old female complained of a one-month history of imbalance and headache. Brain MRI showed an irregular rim enhancing solid and cystic mass centered in the superomedial left cerebellar hemisphere. Resection of the lesion was recommended; however, the patient opted to undergo the procedure the following month because of the nearby Christmas holidays. When the patient returned 30 days later, a new brain MRI showed an enlargement of the cerebellar mass, extending to the brainstem and infiltrating the left brachium pontis, left posterior aspect of the tegmentum of the pons, and posterolateral medulla oblongata. Subtotal resection was performed without complications, and pathology was compatible with a primary cerebellar glioblastoma negative for IDH1/2 gene mutation. Because of the poor prognosis, the patient and her family members opted for hospice treatment, with the patient dying three weeks later. This case illustrates that cerebellar glioblastoma can rapidly infiltrate the brainstem.

Trigeminal Numbness After Intracranial Repair of a Spontaneous Meningoencephalocele of the Lateral Wall of the Sphenoid Sinus.

A 58-year-old female with an eight-year history of rhinorrhea and a two-day history of subjective fever, chills, and vomiting presented to the emergency department for neurosurgical evaluation. Brain MRI demonstrated herniation of the meninges and portions of the inferomedial right temporal lobe through a defect of the lateral wall of the right sphenoid sinus, extending to the sphenoethmoidal recess and posterior right ethmoid air cells. A right pterional craniotomy was performed where the herniated part of the right temporal lobe, and its associated meninges, were excised. After surgery, she had hypoesthesia at the right maxillary division of the trigeminal nerve. This finding was caused by the proximity of the trigeminal nerve to the dural dissection that we performed at the bone defect. This rare complication has never been described after intracranial surgery. Only eight literature reports have described hypoesthesia or paresthesia of the trigeminal nerve after endoscopic resection of a sphenoid sinus meningoencephalocele. The patient has not had any recurrence of rhinorrhea after a six-month follow-up period.

Alveolar rhabdomyosarcoma metastatic to the brain.

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.

Cerebellar Arteriovenous Malformation with Coexistent Hemangioblastoma.

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.

Leptomeningeal Carcinomatosis as the Initial Manifestation of Metastatic Disease diagnosed in Postmortem Examination: A Case Series.

Leptomeningeal carcinomatosis (LMC) refers to the infiltration of malignant cells in the pia-arachnoids. LMC is undiagnosed until autopsy in about 20% of cases. A nonspecific neurologic symptomatology makes diagnosis challenging; especially in the scenario of unknown malignancy. Diagnosis is made by the identification of malignant cells in CSF; though studies have shown that serial examination may be required for acceptable accuracy. We report 3 cases with distinct neurological presentations, negative cerebrospinal fluid (CSF) examinations and neurological imaging. A 52 year old woman with history of breast cancer on remission, a 2 year old male with left ear rhabdomyosarcoma status post resection, and a 59 year old woman with communicating hydrocephalus of unknown etiology. LMC was diagnosed at autopsy and confirmed by immunohistochemistry. LMC is a complication requiring a high level of clinical suspicion. Postmortem examination is an invaluable tool to confirm LMC as part of the multidisciplinary approach aiming towards the improvement of clinical diagnosis.

Efficacy of immunosuppressive treatment in a systemic lupus erythematosus patient presenting with inclusion body myositis.

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.

Aggressive and atypical manifestations of Erdheim-Chester disease.

Erdheim-Chester disease (ECD) is a disseminated non-Langerhans' cell histiocytosis with multisystem involvement, including characteristic sclerotic musculoskeletal lesions. We present the case of a 27-year-old woman with a fulminant course and atypical involvement by ECD manifesting as extensive cerebrovascular disease and lytic musculoskeletal lesions. This case represents an unusual and aggressive presentation of ECD owing to the patient's young age, the severity of the cerebrovascular involvement and the lytic osseous lesions.

Tanycytic ependymoma in a 76-year-old Puerto Rican male.

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.

Cisticercosis autoctona: informe de dos casos / Autochthonus cysticercosis: two cases report

Se reportan 2 casos autóctonos de cisticercosis, uno de localización encefálica y otro del tejido celular subcutáneo. Se describe en cada uno el cuadro clónico, la evolución y los aspectos anatomopatológicos. Se comprobó la presencia de ganchos en el escólex invaginado de uno de los casos, lo cual estableció el dianóstico definitivo de Cisticercus cellulosae

Cisticercosis autoctona: informe de dos casos / Autochthonus cysticercosis: two cases report

Se reportan 2 casos autóctonos de cisticercosis, uno de localización encefálica y otro del tejido celular subcutáneo. Se describe en cada uno el cuadro clónico, la evolución y los aspectos anatomopatológicos. Se comprobó la presencia de ganchos en el escólex invaginado de uno de los casos, lo cual estableció el dianóstico definitivo de Cisticercus cellulosae

Aplicación de las técnicas morfométricas al diagnóstico de la micosis fungoides / Application of morphometric techniques to the diagnosis of mycosis fungoides

Se aplica la técnica automatizada de estudio morfométrico a un caso diagnosticado clinicamente y por técnicas histopatológicas convencionales como micosis fungoides en el Servicio de Anatomía Patológico del Hospital Clinicoquirúrgico "Hermanos Ameijeiras". Se analizan y tabulan los datos obtenidos y se comparan con resultados de otros autores, se valora la utilidad de esta nueva técnica, aplicada al diagnóstico histopatológico

Esquizofrenia: resultados del estudio inmunoelectromicroscópico en animales de experimentación inoculados con líquido cefalorraquídeo; datos adicionales / Schizophrenia: results of the immunoelectronmicroscopic study of trial animals inoculated with cerebrospinal fluid; additional data

Se presentan los resultados encontrados en un estudio a doble ciegas de un segundo grupo de embriones de pollo inoculados con líquido cefalorraquídeo de cinco pacientes esquizofrénicos, analizando los mismos a la luz de los requerimientos epidemiológicos generales para las enfermedades infecciosas aplicados a la esquizofrenia

Esquizofrenia: resultados del estudio inmunoelectromicroscópico en animales de experimentación inoculados con líquido cefalorraquídeo; datos adicionales / Schizophrenia: results of the immunoelectronmicroscopic study of trial animals inoculated with cerebrospinal fluid; additional data

Se presentan los resultados encontrados en un estudio a doble ciegas de un segundo grupo de embriones de pollo inoculados con líquido cefalorraquídeo de cinco pacientes esquizofrénicos, analizando los mismos a la luz de los requerimientos epidemiológicos generales para las enfermedades infecciosas aplicados a la esquizofrenia