Contributions
Abstract: PB2001
Type: Publication Only
Background
Fanconi anemia is the most common genetic cause of bone marrow failure, and is caused by inherited pathogenic variants in any of 22 genes. In addition, many patients are followed up in endocrinology clinics due to short stature. Turner syndrome is one of the most common genetic diseases followed by short stature.
Aims
Here, we aimed to present a patient who was followed up with 46,X,del(X)(q23) in endocrinology and also diagnosed as Fanconi aplastic anemia.
Methods
While the 9-month-old girl was followed up in the pediatric neurology department due to microcephaly, she was referred to us upon the detection of liver hemangioma in the abdominal ultrasound. There is first degree consanguinity between mother and father. Her three-year-old brother is also being followed up in the pediatric neurology department due to microcephaly. Her weight: 7.5 kg (10-25 p), height: 66 cm (3-10 p), head circumference: 40 cm (<3p) and she had polydactyly, approximately 2 cm cafe au lait stain on the left arm and cubitis valgus deformity in both arms. In laboratory tests showed white blood cell (WBC): 11.000/mm3, platelet (Plt): 336.000/mm3, hemoglobin (Hgb): 10.5gr/dl, mean corpuscular volume (MCV): 75.6 fl and biochemical tests were normal. Therefore, the patient was consulted to pediatric endocrinology. In the karyotype analysis, 46,X,del(X)(q23) From her family history it was learned that her brother, who was followed up in neurology due to microcephaly, was referred to hematology department for thrombocytopenia. His blood analysis showed WBC: 5,500/mm3, Plt: 36,000/mm3, Hgb: 11.3gr/dl, MCV: 92.9 fl. Horseshoe kidney was detected in renal ultrasound. Marrow cellularity was 10-15% in trephine biopsy. An increase in chromosome breaks was detected in diepoxybutane (DEB) exposure. Novel homozygous pathogenic nonsense variants were detected in FANCA genes [c.1724C>G p.(tyr578*)] in both of the siblings.
Results
To best of our knowledge novel homozygous pathogenic nonsense variant in the FANCA gene [c.1724C>G p.(tyr578*)] and 46,X,del(X)(q23) was firstly reported in the English medical literature.
Conclusion
We wanted to emphasize that there may be more than one genetic disease in patients who are followed up with short stature and clinicians should carefully evaluate all findings in differential diagnosis.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Abstract: PB2001
Type: Publication Only
Background
Fanconi anemia is the most common genetic cause of bone marrow failure, and is caused by inherited pathogenic variants in any of 22 genes. In addition, many patients are followed up in endocrinology clinics due to short stature. Turner syndrome is one of the most common genetic diseases followed by short stature.
Aims
Here, we aimed to present a patient who was followed up with 46,X,del(X)(q23) in endocrinology and also diagnosed as Fanconi aplastic anemia.
Methods
While the 9-month-old girl was followed up in the pediatric neurology department due to microcephaly, she was referred to us upon the detection of liver hemangioma in the abdominal ultrasound. There is first degree consanguinity between mother and father. Her three-year-old brother is also being followed up in the pediatric neurology department due to microcephaly. Her weight: 7.5 kg (10-25 p), height: 66 cm (3-10 p), head circumference: 40 cm (<3p) and she had polydactyly, approximately 2 cm cafe au lait stain on the left arm and cubitis valgus deformity in both arms. In laboratory tests showed white blood cell (WBC): 11.000/mm3, platelet (Plt): 336.000/mm3, hemoglobin (Hgb): 10.5gr/dl, mean corpuscular volume (MCV): 75.6 fl and biochemical tests were normal. Therefore, the patient was consulted to pediatric endocrinology. In the karyotype analysis, 46,X,del(X)(q23) From her family history it was learned that her brother, who was followed up in neurology due to microcephaly, was referred to hematology department for thrombocytopenia. His blood analysis showed WBC: 5,500/mm3, Plt: 36,000/mm3, Hgb: 11.3gr/dl, MCV: 92.9 fl. Horseshoe kidney was detected in renal ultrasound. Marrow cellularity was 10-15% in trephine biopsy. An increase in chromosome breaks was detected in diepoxybutane (DEB) exposure. Novel homozygous pathogenic nonsense variants were detected in FANCA genes [c.1724C>G p.(tyr578*)] in both of the siblings.
Results
To best of our knowledge novel homozygous pathogenic nonsense variant in the FANCA gene [c.1724C>G p.(tyr578*)] and 46,X,del(X)(q23) was firstly reported in the English medical literature.
Conclusion
We wanted to emphasize that there may be more than one genetic disease in patients who are followed up with short stature and clinicians should carefully evaluate all findings in differential diagnosis.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical