Contributions
Abstract: PB1838
Type: Publication Only
Background
Ghosal type hemato-diaphyseal dysplasia (GHDD) is a rare, autosomal recessive disorder characterized by increased bone density with both diaphyseal and metaphyseal involvement and bone marrow dysfunction marked by a corticosteroid responsive, myelopthisic anemia. The gene responsible for this disease was TBXAS1 which encodes the thromboxane synthase (TXAS) enzyme.
Aims
We aimed to emphasize the importance of rare genetic disordes in differential diagnosis of anemia.
Methods
Here is reported such a rare case of Ghosal type hemato-diaphyseal dysplasia.
Results
Three year-old-boy was admitted with history of pallor, progressive weakness, pain at lower extremities and abdominal distension for last few months. He was suffering from progressive pallor for the last three months requiring multiple blood transfusions without any bleeding diathesis. His birth, development, immunization, dietary histories were normal. There was history of consanguinity. He had height of 98 cm (25-50th percentile of NCHS), weight of 16 Kg (50-75th percentile of NCHS) head circumference of 50 cm (25-50th percentile of NCHS). Physical examination revealed hepatosplenomegaly and generalize lymphadenopathy (<1cm). Laboratory investigation revealed hemoglobin 6.7 g/dL, MCV: 82.7fl, wbc: 6800/mm3, plt: 134.000/mm3, neut: 1600/mm3 and reticulocyte count 2 %. Peripheral smear was hypochromic normocytic with normoblasts. Serum electrolytes, calcium and renal function were within normal limit. Multiple bone marrow aspirations were dry tap. However, bone marrow biopsy revealed myelofibrosis. After biopsy, steroid treatment was initiated and never required blood transfusion. Ultrasonography of abdomen revealed hepatosplenomegaly. Chest X-ray was within normal limit. X-rays of long bones and skull base showed thickening of diaphysis and moderately thickening of skull base. Distal part of femur revealed Erlen-Mayer deformity. The case had myelofibrosis, bone deformities and steroid responsive anemia showing both hematologic and diaphyseal dysplasia of Ghosal hemato-diaphyseal dysplasia. The genetic counseling of the case revealed TBXAS1 homozygous mutation.
Conclusion
Our report illustrates the need to consider GHDD in children with anemia, myelofibrosis, bony abnormalities, and consanguineous parents. Moreover, this case demonstrates the efficacy of chronic, low-dose steroid therapy.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Anemia, Myelofibrosis
Abstract: PB1838
Type: Publication Only
Background
Ghosal type hemato-diaphyseal dysplasia (GHDD) is a rare, autosomal recessive disorder characterized by increased bone density with both diaphyseal and metaphyseal involvement and bone marrow dysfunction marked by a corticosteroid responsive, myelopthisic anemia. The gene responsible for this disease was TBXAS1 which encodes the thromboxane synthase (TXAS) enzyme.
Aims
We aimed to emphasize the importance of rare genetic disordes in differential diagnosis of anemia.
Methods
Here is reported such a rare case of Ghosal type hemato-diaphyseal dysplasia.
Results
Three year-old-boy was admitted with history of pallor, progressive weakness, pain at lower extremities and abdominal distension for last few months. He was suffering from progressive pallor for the last three months requiring multiple blood transfusions without any bleeding diathesis. His birth, development, immunization, dietary histories were normal. There was history of consanguinity. He had height of 98 cm (25-50th percentile of NCHS), weight of 16 Kg (50-75th percentile of NCHS) head circumference of 50 cm (25-50th percentile of NCHS). Physical examination revealed hepatosplenomegaly and generalize lymphadenopathy (<1cm). Laboratory investigation revealed hemoglobin 6.7 g/dL, MCV: 82.7fl, wbc: 6800/mm3, plt: 134.000/mm3, neut: 1600/mm3 and reticulocyte count 2 %. Peripheral smear was hypochromic normocytic with normoblasts. Serum electrolytes, calcium and renal function were within normal limit. Multiple bone marrow aspirations were dry tap. However, bone marrow biopsy revealed myelofibrosis. After biopsy, steroid treatment was initiated and never required blood transfusion. Ultrasonography of abdomen revealed hepatosplenomegaly. Chest X-ray was within normal limit. X-rays of long bones and skull base showed thickening of diaphysis and moderately thickening of skull base. Distal part of femur revealed Erlen-Mayer deformity. The case had myelofibrosis, bone deformities and steroid responsive anemia showing both hematologic and diaphyseal dysplasia of Ghosal hemato-diaphyseal dysplasia. The genetic counseling of the case revealed TBXAS1 homozygous mutation.
Conclusion
Our report illustrates the need to consider GHDD in children with anemia, myelofibrosis, bony abnormalities, and consanguineous parents. Moreover, this case demonstrates the efficacy of chronic, low-dose steroid therapy.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Anemia, Myelofibrosis