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2.
Mol Syndromol ; 4(4): 165-72, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23801932

RESUMO

Mutations of CCM3/PDCD10 cause 10-15% of hereditary cerebral cavernous malformations. The phenotypic characterization of CCM3-mutated patients has been hampered by the limited number of patients harboring a mutation in this gene. This is the first report on molecular and clinical features of a large cohort of CCM3 patients. Molecular screening for point mutations and deletions was used to identify 54 CCM3-mutated index patients. Age at referral and clinical onset, type of inaugural events and presence of extra-axial lesions were investigated in these 54 index patients and 22 of their mutated relatives. Mean age at clinical onset was 23.0 ± 16 years. Clinical onset occurred before 10 years in 26% of the patients, and cerebral hemorrhage was the initial presentation in 72% of these patients. Multiple extra-axial, dural-based lesions were detected in 7 unrelated patients. These lesions proved to be meningiomas in 3 patients who underwent neurosurgery and pathological examination. This 'multiple meningiomas' phenotype is not associated with a specific CCM3 mutation. Hence, CCM3 mutations are associated with a high risk of early-onset cerebral hemorrhage and with the presence of multiple meningiomas.

3.
Clin Neurol Neurosurg ; 110(7): 743-6, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18514392

RESUMO

Intraventricular meningiomas are infrequent intracranial tumors. Clinical symptoms are mainly due to an increased intracranial pressure or a direct pressure on the surrounding brain structures. Inflammatory syndrome was described in some patients with chordoid meningiomas. Here we report a case of right intraventricular clear cell meningioma in a 50-year-old man who presented with fever, headache, and inflammatory syndrome. Clinical and biological normalization was rapidly obtained after tumor removal. Immunohistochemical examination showed tumor cells and lymphocytes positivity for the pyrogenic cytokine interleukin-6, with a same intensity. To our knowledge, this is the first case described in the literature concerning an adult man with an intraventricular clear cell meningioma associated with a systemic inflammatory syndrome.


Assuntos
Inflamação/patologia , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Febre/etiologia , Humanos , Imuno-Histoquímica , Inflamação/etiologia , Interleucina-6/biossíntese , Ventrículos Laterais/metabolismo , Ventrículos Laterais/patologia , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/cirurgia , Meningioma/complicações , Meningioma/cirurgia , Pessoa de Meia-Idade , Síndrome
5.
Rev Pneumol Clin ; 57(4): 297-301, 2001 Sep.
Artigo em Francês | MEDLINE | ID: mdl-11593156

RESUMO

Acute bronchial mucosal sloughing related to Toxic Epidermal Necrolysis (Lyell syndrome) is widely reported in literature. On the contrary severe respiratory involvement is rare in post-infectious or toxic Epitheliolysis (Stevens-Johnson syndrome). There is no well-known predictive sign of bronchial epithelium involvement. An 18-year-old patient was admitted for Stevens-Johnson syndrome related to sulfasalazine (salazosulfapyridine). There were no respiratory signs. An acute respiratory failure occurred 36 hours after from admission due to an obstructive and desquamative necrosis of the tracheobronchial epithelium. We purpose that a fiberoptic laryngoscopy should be performed even in non-dyspneic patients suffering from Stevens-Johnson syndrome if hypersecretion is present. Fiberoptic bronchoscopy can be helpful in these cases.


Assuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Broncopatias/induzido quimicamente , Broncopatias/patologia , Fármacos Gastrointestinais/efeitos adversos , Mucosa Respiratória/efeitos dos fármacos , Mucosa Respiratória/patologia , Síndrome de Stevens-Johnson/etiologia , Síndrome de Stevens-Johnson/patologia , Sulfassalazina/efeitos adversos , Doenças da Traqueia/induzido quimicamente , Doenças da Traqueia/patologia , Doença Aguda , Adolescente , Autopsia , Broncoscopia , Evolução Fatal , Humanos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Laringoscopia , Masculino , Valor Preditivo dos Testes , Insuficiência Respiratória/induzido quimicamente , Insuficiência Respiratória/patologia , Fatores de Tempo
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