RESUMO
BACKGROUND: Primary leptomeningeal gliomatosis (PLG) is a poorly recognized tumor of the central nervous system. OBJECTIVE: To describe the histopathological, immunohistochemical, and molecular features of PLG. METHODS: Results of our multicentric retrospective study of 6 PLG cases (3 pediatric and 3 adult) were compared with literature data. RESULTS: The mean age was 54.7 years for adults and 8.7 years for children, with 3 males and 3 females. Clinical symptoms were nonspecific. Cerebrospinal fluid analyses showed a high protein level often associated with pleocytosis but without neoplastic cells. On neuroimaging, diffuse leptomeningeal enhancement and hydrocephalus were observed, except in 1 case. PLG was mostly misinterpreted as infectious or tumoral meningitis. The first biopsy was negative in 50% of cases. Histopathologically, PLG cases corresponded to 1 oligodendroglioma without 1p19q codeletion and 5 astrocytomas without expression of p53. No immunostaining for IDH1R132H and no mutations of IDH1/2 and H3F3A genes were found. Overall survival was highly variable (2-82 months) but seems to be increased in children treated with chemotherapy. CONCLUSION: This study shows the difficulties of PLG diagnosis. The challenge is to achieve an early biopsy to establish a diagnosis and to begin a treatment, but the prognosis remains poor. PLG seems to have a different molecular and immunohistochemical pattern compared with intraparenchymal malignant gliomas.
Assuntos
Carcinomatose Meníngea/diagnóstico , Neoplasias Neuroepiteliomatosas/diagnóstico , Adulto , Biomarcadores Tumorais/análise , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Carcinomatose Meníngea/mortalidade , Neoplasias Neuroepiteliomatosas/mortalidade , Neuroimagem , Prognóstico , Estudos RetrospectivosRESUMO
We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.
Assuntos
DNA/genética , Predisposição Genética para Doença , Mutação , Fosfatidato Fosfatase/genética , Rabdomiólise/genética , Biópsia , Criança , Pré-Escolar , Análise Mutacional de DNA , Diagnóstico Diferencial , Evolução Fatal , Feminino , Seguimentos , Humanos , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Proteínas Nucleares , Fosfatidato Fosfatase/metabolismo , Rabdomiólise/diagnóstico , Rabdomiólise/metabolismoRESUMO
The clays consumed by geophagous individuals contain large quantities of aluminum, a known neurological and hematological toxin. This is the first study to evaluate the risk of aluminum poisoning in geophagous individuals. Blind determinations of plasma and urinary aluminum concentrations were carried out in 98 anemic geophagous pregnant women and 85 non-anemic non-geophagous pregnant women. Aluminum concentrations were significantly higher (P < 0.0001) in the geophagous anemic women than in the controls, with odds ratios of 6.83 (95% confidence interval [CI] = 2.72-19.31) for plasma concentrations (13.92 ± 14.09 µg/L versus 4.95 ± 7.11 µg/L) and 5.44 (95% CI = 2.17-14.8) for urinary concentrations (92.83 ± 251.21 µg/L versus 12.11 ± 23 µg/L). The ingested clay is the most likely source of this overexposure to aluminum. If confirmed, the clinical consequences of this absorption for pregnant women and their offspring should be explored.