RESUMEN
Complete or partial loss of chromosome 7 is a common and well-known cytogenetic abnormality associated with preleukemic myelodysplasia and myeloid leukemia but not with autoimmune myelofibrosis. Detection of this molecular change represents poor prognosis. When malignant transformation occurs, the condition tends to be chemotherapy-resistant requiring haematopoietic stem cell transplantation (HSCT) to obtain a cure. Disappearance after immunosuppressive therapy has been documented in children with hematological disorders but not in association with cyclophosphamide and systemic lupus erythematous.We present the interesting case of a 12-year-old male with monosomy 7, systemic lupus erythematous, and lupus nephritis with the resolution of the monosomy 7 and autoimmune myelofibrosis after treatment with cyclophosphamide, along with a review of the literature.
Asunto(s)
Nefritis Lúpica , Mielofibrosis Primaria , Masculino , Niño , Humanos , Nefritis Lúpica/complicaciones , Nefritis Lúpica/genética , Mielofibrosis Primaria/complicaciones , Mielofibrosis Primaria/genética , Mielofibrosis Primaria/terapia , Cromosomas Humanos Par 7/genética , Ciclofosfamida , InmunosupresoresRESUMEN
Data regarding the outcomes of hematopoietic stem cell transplant (HSCT) for the management of SAMD9L -associated ataxia-pancytopenia syndrome remains limited. We depict the case of a 2-month-old male with a novel mutation in the SAMD9L gene, presenting with respiratory failure, pancytopenia and severe developmental delay. He experienced graft failure 2 months after a 4/6 HLA-matched cord HSCT. At 9 months old, an unsuccessful unrelated donor search prompted a haploidentical HSCT with successful engraftment. He sustains excellent donor chimerism and has improved developmentally over 2 years posttransplant. This case demonstrates haploidentical HSCT as a viable option for patients with SAMD9L mutation and no acceptable unrelated donor.
Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Pancitopenia , Trasplante de Médula Ósea , Ataxia Cerebelosa , Humanos , Lactante , Masculino , Mutación , Acondicionamiento Pretrasplante , Donante no EmparentadoRESUMEN
To this day, there are limited data about the effects and management of coronavirus disease infection in pediatric patients with sickle cell disease. We present the management and successful clinical course of an 8-year-old female with homozygous sickle cell disease (SS) and severe acute chest syndrome secondary to coronavirus disease 2019 infection, complicated by cortical vein thrombosis.