Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system.

OBJECTIVE: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. METHODS: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. RESULTS: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. CONCLUSION: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system / Craniossinostoses sindrômicas: habilidades neuropsicolinguísticas e análise por imagem do sistema nervoso central

ABSTRACT Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

RESUMO Objetivo: Caracterizar as habilidades neuropsicolinguísticas de indivíduos com craniossinostoses sindrômicas e apresentar esses achados com as anomalias do sistema nervoso central. Métodos: Participaram do estudo 18 sujeitos com diagnóstico clínico de craniossinostose sindrômica, 44,4% com a síndrome de Apert e 55,6% síndrome de Crouzon. Todos os sujeitos foram submetidos a avaliação fonoaudiológica, psicológica e exames de ressonância magnética do encéfalo. A avaliação fonoaudiológica foi contemplada pela Observação Comportamental da Linguagem, Teste Peabody (TVIP), Teste Token e Teste de Desempenho Escolar (TDE); enquanto a psicológica utilizou a WISC-III e a WAIS. Resultados: Observou-se alteração nas habilidades de linguagem em todos os protocolos utilizados, sendo o TDE o que apresentou maior porcentagem de alteração (66,67%).A avaliação cognitiva evidenciou quociente de inteligência dentro da média em 39,3% dos sujeitos, enquanto que 46,4% apresentaram malformações congênitas do sistema nervoso central. Conclusão: Constatou-se alterações nas habilidades de linguagem na maioria dos sujeitos com craniossinostoses sindrômicas, bem como o baixo desempenho cognitivo.

Decompressive Hemicraniectomy in a South American Population--Morbidity and Outcomes Analysis.

BACKGROUND: Malignant cerebral artery strokes have a poor prognosis, with nearly 80% of mortality in some series despite intensive care. After a large randomized trial, decompressive hemicraniectomy has been performed more often in stroke patients. Here, we describe patients in a tertiary teaching hospital in Brazil, emphasizing the impact of age on outcomes. METHODS: A retrospective cohort of patients, with malignant strokes which received a decompressive hemicraniectomy, from paper and electronic medical records, from January 2010 to December 2013 was divided into two groups according to age. RESULTS: The final analysis included 60 patients. The overall mortality was higher among patients older than 60 yrs (67% vs. 41%; p = 0.039), whose group also had a worse outcome (76% with mRS 5 or 6) at 90 days (OR 3.91 CI95% 1.30-11.74), whereas only 24% had mRS of 0-4 (p = 0.015). All patients who presented with sepsis died (p = 0.003). The incidence of pulmonary infection was very high in the elderly group (76%) with significant intergroup differences (p = 0.027, OR 8.32 CI95% 0.70-98.48). CONCLUSIONS: Older patients present more commonly with infections, more disabilities and a higher mortality, highlighting very poor results in elderly population. These results should be proved with a South American trial, and if confirmed, it can impact on future decisions regarding decompressive craniectomy for acute ischemic stroke in our region.

Long-term follow-up in sacroiliac joint pain patients treated with radiofrequency ablative therapy.

Sacroiliac joint (SIJ) pain is responsible for up to 40% of all cases of lumbar back pain. Objective Report the long-term efficacy of radiofrequency denervation for sacroiliac joint pain at six, twelve and eighteen months.Method Third-two adults' patients with sacroiliac join pain diagnosis were included for a prospective study. Primary outcome measure was pain intensity on the Numeric Rating Scale (NRS). Secondary outcome measure was Patient Global Impression of Change Scale (PGIC).Results Short-term pain relief was observed, with the mean NRS pain score decreasing from 7.7 ± 1.8 at baseline to 2.8 ± 1.2 at one month and to 3.1 ± 1.9 at six months post-procedure (p < 0.001). Long-term pain relief was sustained at twelve and eighteen months post-procedure, with NRS pain remaining at 3.4 ± 2.1 and 4.0 ± 2.7, respectively.Conclusion Radiofrequency denervation of the SIJ can significantly reduce pain in selected patients with sacroiliac syndrome.

Long-term follow-up in sacroiliac joint pain patients treated with radiofrequency ablative therapy / Seguimento longo em pacientes com sacroileíte submetidos a terapia de radiofrequência ablativa

Sacroiliac joint (SIJ) pain is responsible for up to 40% of all cases of lumbar back pain. Objective Report the long-term efficacy of radiofrequency denervation for sacroiliac joint pain at six, twelve and eighteen months.Method Third-two adults’ patients with sacroiliac join pain diagnosis were included for a prospective study. Primary outcome measure was pain intensity on the Numeric Rating Scale (NRS). Secondary outcome measure was Patient Global Impression of Change Scale (PGIC).Results Short-term pain relief was observed, with the mean NRS pain score decreasing from 7.7 ± 1.8 at baseline to 2.8 ± 1.2 at one month and to 3.1 ± 1.9 at six months post-procedure (p < 0.001). Long-term pain relief was sustained at twelve and eighteen months post-procedure, with NRS pain remaining at 3.4 ± 2.1 and 4.0 ± 2.7, respectively.Conclusion Radiofrequency denervation of the SIJ can significantly reduce pain in selected patients with sacroiliac syndrome.

A Sacroileíte pode ser responsável por até 40% dos casos de dor lombar crônica. Objetivo Análise da eficácia da denervação por radiofrequência na articulação sacro-ilíaca em seis, doze e dezoito meses.Método Trinta e dois pacientes com diagnóstico de sacroileíte foram incluídos em estudo prospectivo. O prognóstico primário foi avaliado pela escala visual analógico (NRS). O prognóstico secundário foi avaliado pela escala de impressão global de mudança pelo paciente (PGIC).Resultados Melhora a curto prazo da dor foi observada, com redução media na NRS de 7,7 ± 1,8 para 2,8 ± 1,2 após 1 mês e para 3,1 ± 1,9 em 6 meses do procedimento (p < 0,001). Após 12 e 18 meses, o NRS manteve-se 3,4 ± 2,1 e 4,0 ± 2,7, respectivamente.Conclusão A denervação da articulação sacro-ilíaca por radiofrequência pode reduzir significativamente a dor em pacientes com sacroileíte.

Current management of brain metastases / Manejo atual de metástases cerebrais

Brain metastases are the most common tumors within the central nervous system. Recent advances on diagnosis and treatment modalities have allowed for longer survival. In this paper we review the indication of each modality of treatment: surgery, whole brain radiotherapy and stereotactic radiosurgery, as also recent advances on the knowledge of brain metastases biology that may improve the use of medical treatment and chemotherapy.

Metástases cerebrais são os tumores mais comuns do sistema nervoso central. Avanços recentes no diagnóstico e modalidades de tratamento têm aumentado a sobrevida dos pacientes. Neste artigo, revisamos a indicação de cada modalidade de tratamento: cirurgia, radioterapia convencional, radiocirurgia estereotáxica, como também os recentes avanços no conhecimento da biologia das metástases cerebrais que poderão ampliar o uso do tratamento clínico com quimioterapia.

Sinking skin flap syndrome with delayed dysautonomic syndrome-An atypical presentation.

INTRODUCTION: Sinking skin flap syndrome or "syndrome of the trephined" is a rare complication after a large craniectomy, with a sunken skin above the bone defect with neurological symptoms such as severe headache, mental changes, focal deficits, or seizures. PRESENTATION OF CASE: We report a case of 21 years old man with trefinated syndrome showing delayed dysautonomic changes. DISCUSSION: Our patient had a large bone flap defect and a VP shunt that constitute risk factors to develop this syndrome. Also, there is reabsorption of bone tissue while it is placed in subcutaneous tissue. The principal symptoms of sinking skin flap syndrome are severe headache, mental changes, focal deficits, or seizures. Our patient presented with a delayed dysautonomic syndrome, with signs and symptoms very characteristics. Only few cases of this syndrome were related in literature and none were presented with dysautonomic syndrome. CONCLUSION: We reported here a very uncommon case of sinking skill flap syndrome that causes a severe dysautonomic syndrome and worsening the patient condition.

Pilomyxoid astrocytoma of the brainstem.

A pilomyxoid astrocytoma is a recently described tumor that occurs predominantly in the hypothalamic-chiasmatic region and is rarely found elsewhere. It has similar features as pilocytic astrocytomas, but has distinct histological characteristics and a poorer prognosis. A pilomyxoid astrocytoma is an aggressive tumor, and increased awareness is necessary with a suspect case. We present the first case of a pilomyxoid astrocytoma of the brainstem described after the newest World Health Organization classification of central nervous system tumors.

Intradural lumbar disc herniation: report of five cases with literature review.

INTRODUCTION: Intradural lumbar disc herniations are uncommon presentations of a relatively frequent pathology, representing less than 1% of all lumbar disc hernias. They show specific features concerning their clinical diagnosis, with a higher incidence of cauda equina syndrome, and their surgical treatment requires a transdural approach. METHODS: In this article, we describe five cases of this pathology and review the literature as well as some considerations about the difficulties in the preoperative diagnostic issues and the surgical technique. CONCLUSION: We concluded that for intradural disc herniations the diagnosis is mainly intraoperative, and the surgical technique has some special aspects.

Purely cortical anaplastic ependymoma.

Ependymomas are glial tumors derived from ependymal cells lining the ventricles and the central canal of the spinal cord. It may occur outside the ventricular structures, representing the extraventicular form, or without any relationship of ventricular system, called ectopic ependymona. Less than fifteen cases of ectopic ependymomas were reported and less than five were anaplastic. We report a rare case of pure cortical ectopic anaplastic ependymoma.

Achados neuropsicolinguísticos na síndrome de Crouzon: relato de caso / Neuropsycholinguistic findings in Crouzon syndrome: case report

O objetivo do trabalho foi relatar um caso clínico sobre a síndrome de Crouzon, englobando as habilidades neuropsicolinguisticas. O estudo foi realizado com uma criança de oito anos e dois meses, do gênero masculino, com diagnóstico clínico da síndrome de Crouzon. Para a caracterização das habilidades foi realizada avaliação interdisciplinar com fonoaudiólogo, psicólogo e neurologista. A avaliação fonoaudiológica incluiu a avaliação das habilidades comunicativas, da linguagem oral, considerando as habilidades fonológicas, sintáticas, semânticas e pragmáticas, e da linguagem escrita. Para a avaliação neuropsicológica utilizou-se a escala Wechsler Scale for Children. A avaliação neurológica foi centrada no exame de ressonância magnética de encéfalo. O paciente também realizou avaliação audiológica, e apresentou perda auditiva condutiva de grau leve. Na avaliação clínica e formal da linguagem oral foi possível observar alterações nos aspectos fonológico e semântico da linguagem. Já com relação à linguagem escrita, observou-se desempenho aquém do esperado para a idade, caracterizado principalmente por alterações na escrita e na aritmética. Os resultados da avaliação neuropsicológica evidenciaram valores de Quociente Intelectual dentro dos padrões da normalidade. O resultado da ressonância magnética do encéfalo demonstrou alteração estrutural do sistema nervoso central. Pode-se concluir que os achados evidenciaram alterações nas habilidades de linguagem oral e escrita, além da presença de alteração estrutural do sistema nervoso central.

The aim of this study was to relate the neuropsycholinguistic abilities of a male child with eigth years and two months, diagnosed with Crouzon syndrome. The characterization of neropsycholinguitic abilities was based on a interdisciplinary evaluation carried out by a speech-language pathologist, a neurologist, and a psychologist. Speech-language evaluation included the assessment of communication skills, oral (phonological, syntactic, semantic and pragmatic abilities) and written language. The neuropsychological assessment used the Wechsler Scale for Children. The neurological evaluation was focused on the results of magnetic resonance imaging. The subject also carried out an audiological evaluation, which showed mild conductive hearing loss. In the oral language assessment, phonological and semantic deficits were observed. Written language performance was also below the expected for the subject's age, characterized mainly by writing and arithmetic deficits. The neuropsychological evaluation showed normal Intellectual Quotient. The results of the magnetic resonance imaging showed structural alterations of the central nervous system. Thus, the findings evidenced oral and written language deficits, and presence of structural alterations of the central nervous system.

Results of microsurgical treatment of medulla oblongata and spinal cord hemangioblastomas: a comparison of two distinct clinical patient groups.

PURPOSE: To analyze the surgical outcome of a consecutive and single center series of medulla oblongata (MO) and spinal cord hemangioblastomas (HB). PATIENT AND METHODS: We retrospectively reviewed the medical charts of all MO and spinal HB patients operated on in our institution between 1985 and 2002. All patients had pre- and at least one post-operative MRI. McCormick classification was used to assess neurological status and functional outcome. RESULTS: Forty surgical procedures have been performed on 34 patients (19 females and 15 males, mean age of 41 years). Twenty-five (73%) patients had Von Hippel Lindau (VHL) disease confirmed by genetic screening, and nine patients had sporadic disease. Complete clinical, radiological, and genetic studies were done in all cases. The most frequent clinical symptom was pain (28 patient, 85%) followed by motor (42%) and sensitive deficits (42%). Fourteen lesions (19%) were located in the MO, 28 (38%) in the cervical spine, 25 (34%) in the thoracic spine, 4 (5%) in the lumbar spine and 3 (4%) in the Cauda Equina. In the VHL group, 15 patients (60%) presented multiple lesions and 10 a single neurological lesion (40%). A cyst was present in 23% of VHL patients and in 55% of the non-VHL group. A complete removal was achieved in 85% of all cases. No deaths related to surgery occurred. At the end of the follow-up period (mean 60 months) 50% of patients were stabilized, while the condition of 32.35% was improved and of 17.65% worsened. Comparing the clinical evolution considering the presence or not of VHL we have seen that there are no differences in terms of functional outcome between VHL and non-VHL groups. CONCLUSION: Our results confirmed that surgery remains a safe and effective treatment for medulla oblongata and spinal hemangioblastoma. Only symptomatic lesion required surgical treatment. In other cases, especially in VHL patients, a close and regular follow-up (clinical and MRI) is necessary.

[Crouzon syndrome: factors related to the neuropsychological development and to the quality of life]. / Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida.

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and 132 months. The multidisciplinary evaluation included : social evaluation, cognitive evaluation, brain studies by magnetic resonance imaging and quality of life evaluation. The intelligence quotient values observed were between 46 and 102 (m=84.2) and was correlated (inverted correlation) to the factor IV of the short-form of the Questionnaire on Resources and Stress. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.

Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida / Crouzon syndrome: factors related to the neuropsychological development and to the quality of life

A síndrome de Crouzon é caracterizada por deformidade craniana, alterações faciais e exoftalmia. O retardo no desenvolvimento neuropsicomotor é observado em alguns casos. Este estudo tem como objetivo analisar a influência do momento da cirurgia, da classe sócio-econômica associada ao nível educacional dos pais e da ocorrência de malformações do sistema nervoso central no desenvolvimento cognitivo destes pacientes correlacionando estes achados à qualidade de vida deles e de suas famílias. Foram estudados 11 pacientes com diagnóstico de síndrome de Crouzon com idade entre um ano e quatro meses e treze anos. A avaliação multidisciplinar dos pacientes incluiu, avaliação social, avaliação cognitiva, estudo do encéfalo por ressonância magnética e avaliação da qualidade de vida. O quociente de inteligência variou de 46 a 102 (m=84,2) e foi correlacionado de forma inversa com o Fator 4 do Questionário de Recursos e Estresse Simplificado (incapacidade da criança); não se correlacionou com as alterações encefálicas, com a condição sócio-econômica dos pais e nem com o momento do tratamento neurocirúrgico.

Crouzon syndrome is characterized by cranial and facial abnormalities and exophtalmos. Mental retardation is sometimes observed. The objective of this study was to correlate brain malformations, timing for surgery and also social classification of families and parents education to the neuropsychological evaluation and to the quality of life of these families. Eleven patients with Crouzon syndrome were studied, whose ages were between 16 and 132 months. The multidisciplinary evaluation included : social evaluation, cognitive evaluation, brain studies by magnetic ressonance imaging and quality of life evaluation. The intelligence quotient values observed were between 46 and 102 (m=84.2) and was correlated (inverted correlation) to the factor IV of the short-form of the Questionnaire on Resources and Stress. Mental development was not correlated to brain malformation, neither to the age at time of operation or to the level of family environment and parents education.

[Prototyping as an alternative to cranioplasty using methylmethacrylate: technical note]. / Prototipagem como forma alternativa para realização de cranioplastia com metilmetacrilato: nota técnica.

The prototyping is a method for reconstruction of human body segments by computer software. It has been used in neurosurgery for cranial reproduction in patients allowing the programming of surgical procedures and the production of prosthesis to reconstruct bone failures in the skull. We present two cases of cranioplasty performed with the use of acrylic prosthesis constructed by prototyping. After 10 months of follow-up, they do not present signs of infection and show good aesthetic result. The advantages pointed at the literature for this method (reduction of surgical time, easy technical handle, and good aesthetic result) were confirmed.

Prototipagem como forma alternativa para realização de cranioplastia com metilmetacrilato: nota técnica / Prototyping as an alternative to cranioplasty using methylmethacrylate: technical note

A prototipagem, método de reconstrução de segmentos do corpo humano através de programas de computação, tem sido usada na neurocirurgia para reproduzir o crânio de pacientes permitindo a programação de atos cirúrgicos e a produção de próteses para reconstruir falhas ósseas no crânio. Apresentamos dois casos de cranioplastia realizadas com o uso de próteses de acrílico construídas por prototipagem. Após 10 meses de acompanhamento, os pacientes não apresentaram sinais de infecção e apresentam bom resultado estético. As vantagens apontadas na literatura para este método (redução do tempo cirúrgico, facilidade técnica e bom resultado estético) foram observadas.