Contributions
Abstract: PB1976
Type: Publication Only
Background
Scurvy is a rare disorder that can be seen in patients with severely restricted diets.1 The last case of scurvy was reported nearly thirty-years ago in the Ethiopian refugees.2 Scurvy diagnosis may prove challenging for physicians unfamiliar to its features, particularly in the presence of other hematologic disorders.
Aims
Here, we report a case of scurvy in a child with Fanconi Anemia.
Methods
A 10 years old female Syrian refugee was referred to Erciyes University for hematopoietic stem cell transplantation (HSCT) for Fanconi aplastic anemia (FAA) with platelet refractoriness. Blood count analyses revealed a hemoglobin of 6.3 g/dL, mean corpuscular volume of 103 fL, leukocyte count of 810x109/L, and platelet count of 2x109/L. Bone marrow aspiration and biopsy showed hypoplastic marrow with 10% cellularity. A chromosomal breakage test with diepoxybutane was consistent with FAA. Using whole exome sequencing, we identified a rare, predicted pathogenic missense variant (M-CAP score: 0.16; FANCA: p.Gly1009Asp;) According to clinical features, laboratory findings and genetic analysis she had FAA, but MRI revealed that she may also have scurvy. The serum vitamin C level was very low (0.1 mg/dL,
Results
FAA is an inherited disease characterized by bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid, and epithelial malignancies due to genomic instability. Scurvy is a rare disorder that can be seen in patients with severely restricted diets. The last case of refugees with scurvy was reported nearly thirty-years ago. The features of scurvy can confound a diagnosis of another genetic blood disorder, such as FAA. It may be speculated that the scurvy should complicate the clinical course by worsening the pancytopenia.
Conclusion
Hematologists managing patients originating from low income countries should consider factors that may confound various blood diseases such as FAA. Nutritional deficiencies can be a significant contributor to such complicated presentations
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Anemia, Fanconi anemia
Abstract: PB1976
Type: Publication Only
Background
Scurvy is a rare disorder that can be seen in patients with severely restricted diets.1 The last case of scurvy was reported nearly thirty-years ago in the Ethiopian refugees.2 Scurvy diagnosis may prove challenging for physicians unfamiliar to its features, particularly in the presence of other hematologic disorders.
Aims
Here, we report a case of scurvy in a child with Fanconi Anemia.
Methods
A 10 years old female Syrian refugee was referred to Erciyes University for hematopoietic stem cell transplantation (HSCT) for Fanconi aplastic anemia (FAA) with platelet refractoriness. Blood count analyses revealed a hemoglobin of 6.3 g/dL, mean corpuscular volume of 103 fL, leukocyte count of 810x109/L, and platelet count of 2x109/L. Bone marrow aspiration and biopsy showed hypoplastic marrow with 10% cellularity. A chromosomal breakage test with diepoxybutane was consistent with FAA. Using whole exome sequencing, we identified a rare, predicted pathogenic missense variant (M-CAP score: 0.16; FANCA: p.Gly1009Asp;) According to clinical features, laboratory findings and genetic analysis she had FAA, but MRI revealed that she may also have scurvy. The serum vitamin C level was very low (0.1 mg/dL,
Results
FAA is an inherited disease characterized by bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid, and epithelial malignancies due to genomic instability. Scurvy is a rare disorder that can be seen in patients with severely restricted diets. The last case of refugees with scurvy was reported nearly thirty-years ago. The features of scurvy can confound a diagnosis of another genetic blood disorder, such as FAA. It may be speculated that the scurvy should complicate the clinical course by worsening the pancytopenia.
Conclusion
Hematologists managing patients originating from low income countries should consider factors that may confound various blood diseases such as FAA. Nutritional deficiencies can be a significant contributor to such complicated presentations
Session topic: 29. Enzymopathies, membranopathies and other anemias
Keyword(s): Anemia, Fanconi anemia