RESUMEN
We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both ß-galactosidase and α-neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a renal allograft at the age of 3 years 4 months. Transplantation was successful and graft function remains excellent after 6 years. However, the patient shows signs of progression of her primary disease. To our knowledge, she is the first GS patient to be given renal transplantation worldwide. We propose that renal transplantation should be considered as a therapeutic option for the treatment of severe renal complications of GS.
Asunto(s)
Fallo Renal Crónico/cirugía , Trasplante de Riñón , Enfermedades por Almacenamiento Lisosomal/complicaciones , Brasil , Catepsina A/genética , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Predisposición Genética a la Enfermedad , Supervivencia de Injerto , Humanos , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/etiología , Trasplante de Riñón/efectos adversos , Donadores Vivos , Enfermedades por Almacenamiento Lisosomal/diagnóstico , Enfermedades por Almacenamiento Lisosomal/genética , Mutación , Fenotipo , Factores de Tiempo , Resultado del TratamientoRESUMEN
We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33),+r(12)(p13.3q24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.
Asunto(s)
Anomalías Múltiples/genética , Manchas Café con Leche/patología , Cromosomas Humanos Par 12/genética , Microcefalia/patología , Cromosomas en Anillo , Anomalías Múltiples/patología , Niño , Bandeo Cromosómico , Discapacidades del Desarrollo/patología , Oído/anomalías , Dedos/anomalías , Humanos , Cariotipificación , Masculino , SíndromeRESUMEN
We studied 58 childhood B-lineage acute lymphoblastic leukemia (B-ALL) in Brazilian sample patients at the time of diagnosis to investigate the prevalence of the cryptic t(12;21)(p13;q22). All bone marrow specimens were G-band karyotyped, and commercial dual-color DNA probes were used to search for fusion signals in nuclei. The karyotype analysis showed hyperdiploidy as the most frequent abnormality. The frequency of patients with TEL/AML1 gene fusion was 19% (11 out of 58 cases). Six of the positive samples had normal karyotypes. Deletion of the wild-type TEL allele was observed in 27.3% of TEL/AML1 fusion-positive cases, but it was also identified in 4.2% of the negative cases. Three cases presented two fusion signals, indicating possible duplication of the der(21). The mean age of the patients with TEL/AML1 fusion was 4.8 years and the mean amount of peripheral leukocytes was 44,270 x 10(6)/L. The higher frequency of females with B-ALL (33/58 cases) observed in our sample was probably due to the selection mode of the study cases. The prevalence of TEL/AML1 fusion in Brazilian children in our study is similar to that found in other populations.
Asunto(s)
Linfoma de Burkitt/genética , Proteínas de Fusión Oncogénica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Brasil , Niño , Cromosomas Humanos Par 12 , Cromosomas Humanos Par 21 , Subunidad alfa 2 del Factor de Unión al Sitio Principal , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Sondas Moleculares , Ploidias , Translocación GenéticaRESUMEN
We report on a case of inborn errors of metabolism in association with extensive mongolian spots. We suggest that this association may be due to a disequilibrium of metabolism during embryonic development.
Asunto(s)
Errores Innatos del Metabolismo/complicaciones , Trastornos de la Pigmentación/etiología , Humanos , Recién Nacido , Masculino , Errores Innatos del Metabolismo/genética , Mucopolisacaridosis I/complicaciones , Mucopolisacaridosis I/genética , Trastornos de la Pigmentación/genéticaRESUMEN
Descreve-se uma crianca do sexo feminino com trissomia parcial do 14. O cariotipo 47,XX, + der(14), t(9;14) (p24;q24)mat e o resultado da disjuncao meiotica 3:1 na mae heterozigota 46,XX, t(9;14) (9qter-9p24: :14q24-14qter;14pter-14 a 24: 9p24-pter), que teve dois abortos espontaneos previos.E feita uma revisao dos casos ja descritos discutindo-se as semelhancas clinicas