RESUMEN
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.
Asunto(s)
Lípidos/genética , Enfermedad de Niemann-Pick Tipo B/genética , Esfingomielina Fosfodiesterasa/genética , Atorvastatina/administración & dosificación , Codón de Terminación/genética , Femenino , Humanos , Metabolismo de los Lípidos/genética , Masculino , Mutación/genética , Enfermedad de Niemann-Pick Tipo B/tratamiento farmacológico , Enfermedad de Niemann-Pick Tipo B/metabolismo , Enfermedad de Niemann-Pick Tipo B/patologíaRESUMEN
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Asunto(s)
Humanos , Masculino , Niño , Ruidos Respiratorios/diagnóstico , Ruidos Respiratorios/fisiopatología , Trasplante de Riñón/efectos adversos , Trasplante de Riñón/métodos , Factores de Riesgo , Terapia de Inmunosupresión/métodos , Ruidos Respiratorios , Ruidos Respiratorios/etiología , Trastornos Linfoproliferativos/complicaciones , Trastornos Linfoproliferativos/diagnóstico , Cartílago Aritenoides/patología , Cartílago AritenoidesAsunto(s)
Trasplante de Riñón/efectos adversos , Enfermedades de la Laringe/etiología , Trastornos Linfoproliferativos/etiología , Ruidos Respiratorios , Niño , Humanos , Enfermedades de la Laringe/complicaciones , Enfermedades de la Laringe/diagnóstico , Trastornos Linfoproliferativos/complicaciones , Trastornos Linfoproliferativos/diagnóstico , MasculinoRESUMEN
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.