RESUMO
BACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. CASE PRESENTATION: We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical presentation of the patient is compatible with NPD type B. She was initially diagnosed of Gaucher Disease, but her altered lipid profile led to a clinical suspicion of NPD. Combined high doses of atorvastatin and ezetimibe were given to treat the severe hypercholesterolemia. CONCLUSIONS: The pharmacological management of the lipid profile in these patients is important. A unique compound mutation in SMPD1 gene is described.
Assuntos
Lipídeos/genética , Doença de Niemann-Pick Tipo B/genética , Esfingomielina Fosfodiesterase/genética , Atorvastatina/administração & dosagem , Códon de Terminação/genética , Feminino , Humanos , Metabolismo dos Lipídeos/genética , Masculino , Mutação/genética , Doença de Niemann-Pick Tipo B/tratamento farmacológico , Doença de Niemann-Pick Tipo B/metabolismo , Doença de Niemann-Pick Tipo B/patologiaRESUMO
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Assuntos
Humanos , Masculino , Criança , Sons Respiratórios/diagnóstico , Sons Respiratórios/fisiopatologia , Transplante de Rim/efeitos adversos , Transplante de Rim/métodos , Fatores de Risco , Terapia de Imunossupressão/métodos , Sons Respiratórios , Sons Respiratórios/etiologia , Transtornos Linfoproliferativos/complicações , Transtornos Linfoproliferativos/diagnóstico , Cartilagem Aritenoide/patologia , Cartilagem AritenoideAssuntos
Transplante de Rim/efeitos adversos , Doenças da Laringe/etiologia , Transtornos Linfoproliferativos/etiologia , Sons Respiratórios , Criança , Humanos , Doenças da Laringe/complicações , Doenças da Laringe/diagnóstico , Transtornos Linfoproliferativos/complicações , Transtornos Linfoproliferativos/diagnóstico , MasculinoRESUMO
Of the subtypes of acute lymphoblastic leukemia (ALL), the "common" subtype (c-ALL) bears the best prognosis. Nevertheless, there has been no report of cytologic criteria that can distinguish c-ALL from the B-cell (B-ALL) and T-cell (T-ALL) subtypes. We present a case of c-ALL with relapse, with cytochemical and immunocytochemical as well as cytologic studies. Certain cytologic observations in this case could serve to differentiate c-ALL from B-ALL and T-ALL; the morphologic criteria suggested have been seen by us in other c-ALL cases. We think they will be useful in future fine needle aspiration studies in order to demonstrate extramedullary relapses as well as to differentiate ALL subtypes without the need of more costly immunologic studies.
