RESUMO
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids.
Assuntos
Anemia Refratária , Osteocondrodisplasias , Anemia Refratária/diagnóstico por imagem , Anemia Refratária/genética , Osso e Ossos , Criança , Humanos , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , RadiografiaAssuntos
Corticosteroides/administração & dosagem , Anemia Refratária/genética , Predisposição Genética para Doença , Osteocondrodisplasias/genética , Tromboxano-A Sintase/genética , Anemia Refratária/diagnóstico por imagem , Anemia Refratária/tratamento farmacológico , Anemia Refratária/patologia , Criança , Feminino , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/tratamento farmacológico , Osteocondrodisplasias/patologia , Sequenciamento do ExomaRESUMO
Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive inherited disorder associated with biallelic mutations in the TBXAS1 gene located on the chromosome 7q33-34, which encodes thromboxane-A-synthase. GHDD is characterized by defective hematopoiesis due to bone marrow fibrosis and metadiaphyseal dysplasia of long bones. The accurate diagnosis of this rare syndrome is critical since it reduces the need of blood transfusions by corticosteroid therapy, leading to a significant improvement in anemia and bone changes. The aim of this study is to report two adult siblings diagnosed as GHDD, who admitted with pancytopenia and treated with steroids treatment in adult hematology clinic.
Assuntos
Anemia Refratária , Anemia , Doenças Autoimunes , Cromossomos Humanos Par 7/genética , Mutação , Osteocondrodisplasias , Irmãos , Adulto , Anemia/diagnóstico por imagem , Anemia/tratamento farmacológico , Anemia/genética , Anemia Refratária/diagnóstico por imagem , Anemia Refratária/tratamento farmacológico , Anemia Refratária/genética , Doenças Autoimunes/diagnóstico por imagem , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/genética , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/tratamento farmacológico , Osteocondrodisplasias/genéticaRESUMO
BACKGROUND: Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. CASE CHARACTERISTICS: A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. OUTCOME: Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. MESSAGE: Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.
Assuntos
Anemia Refratária , Osteocondrodisplasias , Anemia Refratária/diagnóstico por imagem , Anemia Refratária/genética , Anemia Refratária/patologia , Pré-Escolar , Fêmur/diagnóstico por imagem , Fêmur/patologia , Humanos , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Osteocondrodisplasias/patologia , Mutação Puntual/genética , Tromboxano-A Sintase/genéticaRESUMO
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening derangement of the immune system in which host macrophages phagocytose the patient's own blood cells. Herein, we present the case of a patient with HLH and associated refractory anemia who developed rapid iron deposition in the liver after transfusion of sixteen units of packed red blood cells (RBCs). Before transfusion, neither a liver biopsy nor computed tomography scan demonstrated iron deposition in the organ parenchyma. After receiving sixteen units of packed RBCs, liver iron concentration rose to 6.7 mg/g dry weight, which is highly unusual in other diseases requiring transfusional support.
Assuntos
Anemia Refratária/terapia , Transfusão de Eritrócitos/efeitos adversos , Sobrecarga de Ferro/etiologia , Linfo-Histiocitose Hemofagocítica/terapia , Adulto , Anemia Refratária/diagnóstico por imagem , Anemia Refratária/metabolismo , Feminino , Humanos , Sobrecarga de Ferro/diagnóstico por imagem , Linfo-Histiocitose Hemofagocítica/diagnóstico por imagem , Linfo-Histiocitose Hemofagocítica/metabolismoRESUMO
Ghosal hematodiaphyseal dysplasia is a rare autosomal recessive disorder characterized by metadiaphyseal dysplasia of long bones and defective hematopoiesis due to fibrosis or sclerosis of bone marrow. Approximately 15 cases of this entity have been reported in the literature so far. The diagnosis of this rare syndrome and its differentiation from other sclerosing bone disorders is important as correct diagnosis helps in treatment with corticosteroids, leading to considerable improvement in anemia and bony changes, negating the need for blood transfusions. We review the literature for this uncommon disorder and also present a similar case in a 21-year-old female who remained undiagnosed until this age because of unfamiliarity of clinicians with the condition.
