Multiple sclerosis under the age of ten: the challenge of a rare diagnosis in a special population - a case series.

Introduction: Multiple sclerosis (MS) is a chronic inflammatory demyelinating and degenerative disease of the central nervous system which, when it begins before the age of 18, is defined as paediatric MS. Most common clinical presentations include long tract involvement, brainstem/cerebellum syndromes, optic neuritis and acute disseminated encephalomyelitis. Paediatric-onset MS typically has a more inflammatory-active course and a higher lesion burden in imaging studies, but an extensive post-relapse recovery, with a slower long-term disability progression. The first demyelinating clinical attack occurs before 10 years old in less than 1% of patients, and, in this special population, the condition has particularities in clinical presentation, differential diagnosis, diagnostic assessment, current treatment options and outcome. Clinical cases: We present the cases of four Caucasian children (2 girls) diagnosed with relapsing-remitting MS before the age of ten, with a mean age at the time of the first relapse of 7.4 ± 2.4 years. Clinical presentation included optic neuritis, myelitis, brainstem syndrome, and acute disseminated encephalomyelitis. Baseline MRI identified several lesions, frequently large and ill-defined. Two patients were included in clinical trials and two patients remain in clinical and imaging surveillance. Conclusion: Diagnosis of MS before the age of 10 years is rare, but it has significant long-term physical and cognitive consequences, as well as a substantial impact on the current and future quality of life of the child and family. Early and correct diagnosis is essential. Prospective, randomized, large cohort studies are needed to assess the efficacy and safety of disease-modifying treatments in children under the age of ten.

Spinal cord ischaemic injury while playing in a playground.

Spinal cord ischaemia is a rare condition in children in which imaging diagnosis can be difficult and treatment guidelines are not well established. We describe a case of a previously healthy 13-year-old girl admitted to the emergency department with an acute flaccid paralysis of the lower limbs, abdominal and dorsal pain, and bladder dysfunction. A few hours earlier, she had been playing on a swing with hyperextension and an arched back position. Spinal cord MRI was normal in the first hours, but ischaemic signs were described in a second examination performed some hours later. We discuss the extensive investigation for differential diagnosis and the management of this case.

Sacral Myeloid Sarcoma Manifesting as Radiculopathy in a Pediatric Patient: An Unusual Form of Myeloid Leukemia Relapse.

Myeloid sarcoma (MS), granulocytic sarcoma or chloroma, is defined as a localized extramedullary mass of blasts of granulocytic lineage with or without maturation, occurring outside the bone marrow. MS can be diagnosed concurrently with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). The authors report a case of sacral MS occurring as a relapse of myeloid leukemia in a 5-year-old girl who was taken to the emergency department with radiculopathy symptoms.

[Neuroimaging in Human Immunodeficiency Virus infection]. / Neuroimagem na infecção Vírus da Imunodeficiência Humana.

INTRODUCTION: Central Nervous System (CNS) infection by Human Immunodeficiency Virus (HIV) occurs early in the course of the disease and is associated with changes that can reach any level of the neuroaxis. Neuroimaging plays an increasingly important role both in diagnosis and in longitudinal monitoring of these complications, which can be divided into three major categories: injuries directly associated with HIV, opportunistic infections and malignancies. OBJECTIVES: To identify and to describe the neuroradiological changes found in a population of HIV positive patients. METHODS: Retrospective study with analysis of clinical processes and review of neuroimaging studies of HIV positive patients admitted to the Centro Hospitalar de Coimbra - E.P.E. in the period between 1st January 2008 and 31st March 2011. RESULTS: During the study period we identified 337 episodes of hospitalization of patients with HIV infection, accounting for a total of 196 patients. Of these, 88 underwent at least one neuroimaging examination, with a mean age of 47.1 (27-89) years, of which 75% were males. In 12.5% of the examinations we did not find any relevant changes. In 69.3% atrophy was observed, in 31.2% sequelae lesions with different aetiologies (vascular, infectious), and eight cases of HIV encephalitis were identified. In 19.3% of patients it was diagnosed the presence of an opportunistic infection (11 cases of toxoplasmosis, four of progressive multifocal leukoencephalopathy, one case of tuberculosis and one of neurosyphilis). There were also 10 cases with evidence of recent vascular lesions. Although considered in the differential diagnosis in some cases, in our sample we did not identify any case of tumours. CONCLUSIONS: Recognition of CNS changes associated with HIV infection and of their imaging patterns is of critical importance to the establishment of the diagnosis and to the appropriate treatment. Advanced techniques of Magnetic Resonance Imaging may have an important role in this context.

[Glioblastoma multiforme mimicking limbic encephalitis]. / Glioblastoma multiforme mimetizando encefalite límbica.

Selective and bilateral involvement of the limbic system by gliomas is rarely reported. The authors report the case of a 58 years-male complaining of short-term memory loss in the preceding three weeks. The initial MRI revealed areas of hyperintensity on T2 and FLAIR sequences involving both hippocampus, amygdala, parahippocampus gyrus and the fornix, with contrast enhancement in the right mesial temporal region. Limbic encephalitis diagnosis was assumed and steroid therapy was applied. All other evaluation work-up was negative and follow-up imaging was compatible with tumor. The neuropathologic study of the right temporal lesion revealed glioblastoma multiforme. Glioblastoma can crossover through the commissural white matter to the opposite cerebral hemisphere, most often through the corpus callosum. However, selective and bilateral invasion of the limbic system is rare and when it occurs it may mimic limbic encephalitis.

Cerebellar abscess by Gemella morbillorum in a patient with inter-atrial communication.

Gemella morbillorum, a commensal of the oropharynx, upper respiratory, urogenital and gastrointestinal tract is rarely associated with infections in humans. However, an increasing number of infectious processes in different locations have been reported. Cerebral abscesses caused by these bacteria are extremely uncommon with only four cases previously described in the literature. We present the case of a cerebellar abscess by Gemella morbillorum in a 50 year-old man with inter-atrial communication dealt by surgical excision and antimicrobial therapy.

Cerebellar abscess by Gemella morbillorum in a patient with inter-atrial communication

Gemella morbillorum, a commensal of the oropharynx, upper respiratory, urogenital and gastrointestinal tract is rarely associated with infections in humans. However, an increasing number of infectious processes in different locations have been reported. Cerebral abscesses caused by these bacteria are extremely uncommon with only four cases previously described in the literature. We present the case of a cerebellar abscess by Gemella morbillorum in a 50 years-old man with inter-atrial communication dealt by surgical excision and antimicrobial therapy.

Gemella morbillorum, uma bactéria comensal da orofaringe, vias aéreas superiores e aparelhos urogenital e gastrointestinal, raramente causa infecções em humanos. No entanto, um crescente número de processos infeciosos em diferentes localizações tem sido referido. Abcessos cerebrais provocados por esta bactéria são extremamente raros, encontrando-se apenas quatro casos previamente descritos na literatura. Apresentamos o caso de um abscesso cerebelar por Gemella morbillorum em um homem de 50 anos com comunicação inter-atrial, tratado por excisão cirúrgica e terapêutica antimicrobiana.