Neuroleptic malignant syndrome (NMS) is a potentially fatal adverse event associated with the use of antipsychotics (AP). The objective of this study was to investigate the profile of cases of NMS and to compare our findings with those published in similar settings. A series of 18 consecutive patients with an established diagnosis of NMS was analyzed, gathering data on demography, symptoms and signs. Two thirds of all cases involved woman with a past medical history of psychiatric disorder receiving relatively high doses of AP. The signs and symptoms of NMS episodes were similar to those reported in other series and only one case had a fatal outcome, the remaining presenting complete recovery. As expected, more than two thirds of our cases were using classic AP (68%), however the clinical profile of these in comparison with those taking newer agent was similar. Newer AP also carry the potential for NMS. Key words: atypical antipsychotics, typical antipsychotics, neuroleptic malignant syndrome.Síndrome neuroléptica maligna RESUMO A síndrome neuroléptica maligna (SNM) é um evento adverso potencialmente fatal associado ao uso de antipsicóticos (AP). O objetivo deste estudo foi investigar as características clínicas de cases da SNM e comparar nossos resultados com os publicados na literatura. Uma série de 18 pacientes com diagnóstico confirmado de SNM foram analisados, associando dados demográficos, apresentação clínica, diagnóstico e tratamento. Dois terços dos casos envolveram mulheres com antecedentes psiquiátricos que recebeceram doses relativamente altas de AP. Os sinais e sintomas foram semelhantes àqueles já relatados na literatura e a maioria dos pacientes teve uma recuperação completa, exceto por um caso com desfecho fatal. Houve predomínio de pacientes que usam medicamentos neurolépticos clássicos (68%), porém não houve diferença nas manifestações destes casos em relação àqueles que usavam AP novos. AP mais novos também têm o potencial de causar SNM. Palavras-Chave: neurolépticos atípicos, neurolépticos típicos, síndrome neuroléptica maligna.

The use of oral anticoagulation treatment (OAT) in patients with an international normalized ratio (INR) higher than 1.7 is a contraindication to thrombolysis in acute ischemic stroke. The aim of the present study is to compare the use of point-of-care (POC) coagulometers to the standard coagulation analysis (SCA) procedure of the INR as a decision-making test for use with patients taking OAT. Method: Eighty patients on chronic OAT underwent a POC and an SCA during a regular outpatient evaluation. Results: When comparing the abilities of the POC test and the SCA test to identify adequate levels for thrombolysis (#1.7), the POC had a sensitivity of 96.6% (95%CI 88.4-99.1) and a specificity of 60.0% (95%CI 38.6-78). POC overestimated INR levels by 0.51 points compared to the SCA test. Conclusion: POC has a high sensitivity compared to the SCA test for the identification of patients within the cut-off point for thrombolysis.Keywords: ischemic stroke, thrombolytic therapy, warfarin, contraindications, anticoagulation. RESUMOValores acima de 1.7 no RNI de pacientes em uso de terapia anticoagulante (ACO) é uma contraindicação para a trombólise no AVC isquêmico. O Objetivo do presente estudo é comparar o teste capilar rápido (TCR) com o exame tradicional de RNI como método de decisão para indicação de terapia trombolítica em pacientes em uso de ACO. Método: Oitenta pacientes em uso crônico de ACO foram submetidos ao TCR e ao exame tradicional durante consulta ambulatorial. Resultados: Ao serem comparados os resultados do TCR com o exame tradicional com o ponto de corte de 1,7 de RNI, o teste rápido teve sensibilidade de 96,6% (IC95% 88,4-99,1) e especificidade de 60,0% (IC95% 38,. O TCR superestimou os níveis de RNI em 0,51 pontos comparado ao exame tradicional. Conclusão: O TCR apresentou elevada sensibilidade, comparado ao exame tradicional para a identificação de pacientes em uso de ACO com indicação de trombólise.Palavras-chave: acidente vascular cerebral, terapia trombolítica, testes de coagulação sanguínea, varfarina, antagonistas da vitamina K, anticoagulação oral.

Cervical and intracranial arterial evaluation is an important issue for acute ischemic stroke (IS). Objective: Compare the use of the neurovascular ultrasound examination (NVUE) to digital subtraction angiography (DSA) in acute IS patients for diagnosing significant extracranial and intracranial arteriopathy. Method: Nonconsecutive patients with IS or transient ischemic attack admitted within 12 hours of the onset of symptoms were evaluated retrospectively. Standardized NVUE and DSA were done in all patients within the first 120 hours of hospital admission. Results: Twenty-four patients were included in the study. Compared to DSA, the NVUE demonstrated 94.7% sensitivity and 100% specificity for identifying symptomatic extracranial and/or intracranial arteriopathy. Conclusion: The standardized NVUE technique demonstrated high sensitivity and specificity compared to DSA for diagnosing arterial abnormalities in acute IS patients.Keywords: transcranial Doppler, ultrasonography, digital substraction angiography, ischemic stroke. RESUMOA avaliação cervical e intracraniana é uma etapa importante no AVC isquêmico (AVCi) agudo. Objetivo: Comparar o uso do ultrassom neurovascular (USNV) com técnica padronizada e a angiografia digital (AD) em paciente com AVCi agudo no diagnóstico de doença arterial significativa extra e/ou intracraniana. Método: Pacientes com AVCi e AIT admitidos em até 12 horas do início dos sintomas foram retrospectivamente avaliados. Todos os pacientes foram submetidos a USNV e AD padronizado em até 120 horas da admissão. Resultados: Vinte e quatro pacientes foram incluídos no estudo. Em comparação com a AD, o USNV apresentou sensibilidade de 94,7% e especificidade de 100% para o diagnóstico de doença arterial significativa extra e/ou intracraniana. Conclusão: O uso de técnica padronizada de USNV demonstrou elevada sensibilidade e especificidade para o diagnóstico de doença arterial significativa extra e intracraniana quando comparado a AD.Palavras-chave: ultrassom diagnóstico, ultrassom, angiografia, acidente vascular cerebral isquêmico.

No abstract

In 1980, Hall et all described a syndrome characterized by “hamartoblastoma”, hypopituitarism, unperfurated anus, polydactyly postaxial and numerous visceral anomalies, today known as Pallister-Hall Syndrome. On the study, Hall et all reported six cases of children with that malformation syndrome - lethal on neonatal period. None of the newborns had anterior hypophysis and the hypothalamic tumor was apparent in the inferior part of the brain, going from the optic chiasm to the interpeduncular fossa. Besides, other anomalies were found, such as: laryngeal split, abnormal pulmonary lobation, renal agenesis or dysplasia, shorts fourth metacarpals, nail dysplasia, multiple mouth frenulum, hypoadrenalism, congenital cardiomyopathy and intrauterine growth retardation. Every case was sporadic, the chromosome were apparently normal, without consaguinity relations. Several similar, milder and even asymptomatic cases were described later on. Kletter and Biesecker (1992), Topf et all (1993) and Penman Splitt et all (1994), define the disease as dominant autosomal inheritance. Kettler and Biesecker (1992) stated that most cases as sporadic as a result of a gene mutation with variable expressiveness. According to Biesecker et al (1996), an international workshop determined diagnostic criteria to the Syndrome: Hypothalamic Hamartroma and Central Polydactyly; First degree relative with hypothalamic hamartroma and polydactyly; Dominant autosomal parrent inheritance or in a consistent form with germaine mosaicism. The radiological changes are important for differential diagnosis between Pallister-Hall Syndrome and other hamartroma-present diseases. The hypothalamic hamartroma isolated has phenotypical features and causes hormonal disorders such as early puberty. On the MRI (Magnetic resonance imaging) it shows hyperintese sign on attenuated fluid. On the other hand, the Pallister-Hall Syndrome the hamartroma shows itself as a isointense signs along with other deformities as polydactyly, for example. According to Kuo et al (1999), on MRI, the classic hypothalamic hamartroma isn’t calcified, is homogenous and isointense to the grey matter on weight images in T1, and isointense and often hyperintense on weight images in T2. Those findings are pretty distinctive and help distinguish the hypothalamic hamartroma from ordinary lesions, as craniopharyngioma and hypothalamic/opticalchiasmic glioma, observed in children. Case report: The patient ALDV, male, born in 30/12/1995, was referred to evaluation on the Medical Genetic Service from HCPA. At the time, aged one year and 8 months, he was the only son of a young, healthy couple with no consanguinity. The family history of similar cases or other genetic pathologies are unknown. The prenatal happened with no intercurrences, unless the smoking mother. It was a natural birth; Birth Weight: 2kg; High: 42cm; PC: 32cm. APGAR 9. At 8 months, starts an investigation for precocious puberty, and a karyotype was performed in her hometown: 46, XY (normal). He presents convulsive crises since one year old. DNPM: cephalic support when he had 8 months, sat without support at the age of one. Physical examination: Head circumference in the 97th percentile, length above the 97th percentile. Good general condition, dysmorphic, facies with fusion of eyebrows (sinofre), epicanthus, small nose, dysplastic ears with a broad shield, three café-au-lait spots on the body. Presence of pubic hair. Increase in length and diameter of the penis, as well as of the testicles, in relation to chronological age. In the hands, significant brachydactyly with bitateral hexadactyly. In the feet, bilateral hexadactyly. Proximal cutaneous syndactyly between the 2nd and 3rd bilateral arthroids, mainly on the right. Additional exams: Rx of hands and wrists for bone age: 7 years; Chronological Age: 1 year and 10 months. Normal abdominal ultrasound; Computed Tomography of Skull/Magnetic Resonance of Skull: hypothalamic expansive lesion (3 cm), compatible with hamartoma; triventricular hydrocephalus; Cavum septum pellucidum. Endocrinological Evaluation: compatible with precocious puberty of central cause. High resolution karyotype: 46, XY (normal). Computed tomography of the brain: Examination for neurological control, performed on 10/12/2014, 18-year-old patient. It was observed solid nodular formation in the hypothalamic region, hypodense, with well-defined limits, in close contact with the mesencephalon, without impregnation by contrast medium administered intravenously, measuring about 2.9 X 2.4 X 3.0 cm, in the respective laterolateral, anteroposterior and craniocaudal planes, which in correlation with the patient’s clinical history may be related to hypothalamic Hamartoma.