Congenital neuroblastoma with symptoms of epidural compression at birth.

The occurrence of congenital neuroblastoma presenting at birth with symptoms of epidural compression secondary to spinal canal invasion is rare. Almost all cases reported in the literature have survived from the tumor but suffer severe sequelae, with the exception of the 2 most recently described whose birth was anticipated. The 3 cases of this article have been followed for a minimum of 5 years with the aim to describe their definitive late complications. In none of these cases had the routine ultrasound scan performed in third trimester of pregnancy discovered a tumor mass, nor had it shown abnormal fetal movements. All had leg hypotonia detected on the first day of life. In all, both primary and intraspinal tumors responded well to chemotherapy. All survive with motor deficit and severe bladder dysfunction despite early physiotherapy. Scoliosis has developed in the case with the longest follow-up. The description of these patients enforces the importance of early diagnosis of tumor masses in late pregnancy. Neonatologists should be aware of this rare clinical entity and take it into account in the differential diagnosis with other conditions of early-onset hypotonia. On the other hand, obstetric sonologists should be aware of the possibility to detect such rare tumors in late pregnancy, as anticipation of delivery may reduce the risk of late sequelae.

[Evaluation of quality of life in school children with a history of early severe malnutrition]. / Evaluación de la calidad de vida en escolares con antecedentes de desnutrición temprana severa.

INTRODUCTION: Severe malnutrition in young children may lead to long-term complications, in particular learning and psychosocial disorders linked to health related quality of life (HRQOL). The aim of this study was to evaluate HRQOL in children whit a history of severe malnutrition before 2 years of life, expecting to find lower scores in these patients. MATERIAL AND METHOD: A comparative study was performed on schoolchildren between 5 and 12 years with a history of early severe malnutrition, excluding those with chronic diseases. The Controls were healthy siblings of patients. The sample size was estimated as 26 subjects per group (Total=52). Sociodemographic variables were recorded and the HRQOL was assessed with PedsQL4.0. Chi square and Student t test were applied. Significance level: P<.05. RESULTS: A total of 25 patients and 28 controls were studied. The HRQOL scores obtained from PedsQL for children with history of malnutrition, compared with their healthy siblings, were: Total: 80.82±1.94 vs 89.18±1.84 P<.0001), physical health/dimension: 87.75±3.37 vs 94.75±1.87 (P<.0001), psychosocial health: 77.77±2.90 vs 86.57±1.42 (P<.0001), emotional dimension: 67.80±4.40 vs 78.75±2.96 (P<.0001), social dimension: 88.80±3.05 vs 95.71±1.52 (P<.0001), and school dimension: 74.58±3.80 vs 85.00±3.51 (P<.0001). CONCLUSIONS: Patients with a history of early severe malnutrition, showed significantly lower HRQOL scores compared with controls.

Long-term follow-up of neuroblastoma-associated opsoclonus-myoclonus-ataxia syndrome.

OBJECTIVE: The aim of this study is to describe the long-term neurological, neuropsychological and neuroradiological sequelae and to determine prognostic factors for neurological outcome in children with neuroblastoma-associated opsoclonus-myoclonus-ataxia (OMA) syndrome. METHODS: Data on medical history were collected for the study patients. Examinations with grading of neurological signs, neuropsychological tests and brain magnetic resonance imaging with spectroscopy were performed during a follow-up clinic. RESULTS: Fourteen subjects entered the study. All had localized neuroblastoma and they were evaluated after a median of 7.8 years. Patients with a chronic/multiphasic neurological course received steroids combined with intravenous immunoglobulins in the majority of cases. 71% presented neurological sequelae and 62% had a full-scale IQ below the normal range. All patients showed at least some deficit in the neuropsychological functions assessed (language, visual-motor integration, memory, attention and motor ability). Long-term deficits were more frequently detected in patients with an interval of more than 2 months between OMA onset and its diagnosis, even if in most comparisons statistical significance was not reached. Cerebellar atrophy, observed in 36% of patients, was not associated with the neurological outcome. CONCLUSIONS: Persisting disability is present in most children with neuroblastoma-associated OMA. However, our results support the role of an early diagnosis of OMA in reducing sequelae and encourage the use of new immunosuppressive therapies.

MR imaging findings in 2 cases of late infantile GM1 gangliosidosis.

SUMMARY: Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile form of GM1 gangliosidosis.

[Acute urinary retention in a child with acute disseminated encephalomyelitis]. / Encefalomielite acuta disseminata. Descrizione di un caso clinico pediatrico con ritenzione urinaria acuta.

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory demyelinating encephalomyelitis with often monosymptomatic abrupt onset, followed by multifocal neurologic symptomatology depending on lesion-site. Diagnosis is made on the basis of characteristic magnetic resonance imaging (MRI) signal alterations. ADEM is sensitive to steroid therapy, immunoglobulins and plasmapheresis, presents usually a monophasic course and disappears completely after 2 or 3 weeks. Resolution of MRI lesions appears usually within 6 months of presentation. We report on a 14-year-old male, admitted to our Emergency Unit because of fever and acute urinary retention with a normal neurological examination. Urinary tract ultrasonography and mictional cystography were normal; electrophysiology showed a mild involvement of the peripheral nervous system and brain and spine MRI revealed disseminated areas of increased signal on T2-weighted sequences suggestive of ADEM. Steroid therapy brought about clinical recovery in a few days. Resolution of lesions on MRI after 4 months and absence of relapses during four-year clinical follow-up confirmed definitive diagnosis. Our case is interesting because, to our knowledge, this is the first literature report with acute urinary retention as predominant symptom in monosymptomatic forms. Another peculiar feature is the absence of associated neurologic symptomatology despite MRI evidence of important brain and spine alterations.

Study of the radiation environment on MIR space station with SILEYE-2 experiment.

In this work we present preliminary results of nuclear composition measurements on board space station MIR obtained with SILEYE-2 particle telescope. SILEYE-2 was placed on MIR in 1997 and has been working since then. It consists of an array of 6 active silicon strip detectors which allow nuclear and energetic identification of cosmic rays in the energy range between approximately 30 and 200 MeV/n. The device is attached to an helmet and connected to an eye mask which shields the cosmonaut eyes from light and allow studies of the Light Flashes (LF) phenomenon. In addition to the study of the causes of LF, the device is used to perform real time long term radiation environment monitoring inside the MIR, performing measurements in solar quiet and active days.

Eye light flashes on the Mir space station.

The phenomenon of light flashes (LF) in eyes for people in space has been investigated onboard Mir. Data on particles hitting the eye have been collected with the SilEye detectors, and correlated with human observations. It is found that a nucleus in the radiation environment of Mir has roughly a 1% probability to cause an LF, whereas the proton probability is almost three orders of magnitude less. As a function of LET, the LF probability increases above 10 keV/micrometer, reaching about 5% at around 50 keV/micrometer.