Multi-minicore Disease Revisited.

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followed-up for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.62935-

Analysis of 52 patients with head trauma assisted at pediatric Intensive Care Unit: considerations about intracranial pressure monitoring

OBJECTIVES: Analysis of 52 pediatric patients with head trauma assisted at Intensive Care Unit; to present considerations about epidemiologic factors of trauma, clinical presentation, tomografic aspects, hemodynamic changes and treatment options of intracranial hypertension; to present considerations about the intracranial pressure (ICP) monitoring. METHOD: Retrospective study involving 52 patients with head trauma and 17 patients submitted to a ICP monitoring. RESULTS: We found a male predominance, mean age 7.75 years-old, main cause was run over (38.5%); 21.2% patients presentd arterial hypotension; 67.3% were considered severe head trauma. According to Marshall tomografic grading we had 19.2% type I, 65.4% type II, 3.8% type III, 3.8% type IV and 7.7% type V. Seizures occurred in 25% children ICP monitoring was made in 32.7% of all patients. Mortality rate was 11.5%. In 58% the maximum ICP level occured at the second day of trauma. CONCLUSION: Prognosis was related to severity of trauma, arterial hypotension, Marshall's tomografic gradind III and IV and ICP high values. The ICP monitoring was considered useful to allow the identification and treatment of intracranial hypertension.OBJETIVO:Análise de 52 pacientes pediátricos com trauma de crânio (TCE) assistidos em Unidade de Terapia Intensiva, considerando fatores epidemiológicos do trauma, manifestações clínicas, aspectos tomográficos, variações hemodinâmicas e opções de tratamento da hipertensão intracraniana; avaliar a utilização da monitorização da pressão intracraniana (PIC). MÉTODO:Estudoretrospectivo de 52 pacientes com TCE e 17 destes submetidos a monitorização da PIC. RESULTADO:Houve predominância masculina e a média de idade foi 7,75 anos. Atropelamento foi a principal causa (38,5% dos casos). Encontramos 21,2% dos pacientes com hipotensão arterial. Foram classificados como TCE grave 67,3% dos pacientes. Tivemos graduação tomográfica de Marshall tipo I em 19,2%, II em 65,4%, III em 3,8%, IV em 3,8% e V em 7,7%. Apresentaram crise convulsiva 25%. Foram submetidos a monitorização da PIC 32,7%. A taxa de mortalidade foi 11,5%. O maior valor pressórico ocorreu no segundo dia em 58,8%. CONCLUSÃO: O prognóstico se relacionou com a severidade do trauma, hipotensão arterial, graduação tomográfica de Marshall tipo III e IV e altos valores de PIC. A monitorização da PIC permite facilidades no diagnóstico e tratamento da hipertensão intracraniana

Cisticercose medular relato de dois casos, revisão da literatura e comentários sobre a patogenia

Relato de dois casos de cisticercose medular, sendo o primeiro referente a uma paciente de 13 anos de idade, apresentando a forma intramedular, e o segundo a uma paciente de 51 anos de idade com cisticercose espinhal leptomeníngea. Numa revisão de literatura (desde 1856), foram encontrados 95 casos publicados de cisticercose medular somados a dois de nossa casuística, mostrando a freqüência da doença. Dentro da patogenia da forma extra-medular, os autores defendem a hipótese da migração dos cisticercos do espaço subaracnóide intracraniano para o espinhal, baseando-se na distribuição topográfica dos parásitos na medula