DE NOVO TINF2 C.845G>A: PATHOGENIC VARIANT
IN PATIENT WITH DYSKERATOSIS CONGENITA Kocheva SA, Gjorgjievska M, Martinova K, Antevska-Trajkova Z,
Jovanovska A, Plaseska-Karanfilska D *Corresponding Author: Svetlana Kocheva, MD, PhD, Department of Hematology and Oncology
Children’s Diseases, Majka Tereza 17, Skopje, North Macedonia, tel. +38971378184
e-mail: dr.kocheva@gmail.com page: 89
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CASE PRESENTATION
A 19-month-old boy was referred to the hematology
department at the University clinic for children’s diseases
in order to evaluate the possibility of thrombocytopenia. He
is of Albanian ancestry, born after a normal pregnancy from
healthy parents. There is no consanguinity in the family.
Clinical examination at admission revealed pallor, cutaneous
and mucosal hemorrhagic syndrome. He had growth
retardation below the third percentile on the growth curve.
Laboratory tests have shown thrombocytopenia (with PLT
27 x 109/l), with macrocytic anemia (Hb: 102 g/L, RBC
3.3 õ 109/l, MCV: 98.2 fL) and WBC: 6.03 x 109/l, neutrophil
count of 1.25 109/l. BM analysis showed megaloblastic
maturation in BM with megakaryocyte hypoplasia.
Chromosome analysis indicated no numerical or structural
chromosomal abnormalities. The following month, the PLT
number decreased to 7 x 109/l with the development of severe
macrocytic anemia (Hb 72g/L; RBC 2.3 x109/l). Blood
counts deteriorated with the development of pancytopenia
and aplastic anemia. Four months later, a physical examination
revealed nail dystrophy and skin pigmentation involving
the neck. Differential diagnosis suggested Fancony
anemia or DC. The diagnosis of DC was established with the
identification of a known pathogenic de novo TINF2 gene
mutation. The clinical characteristic and hematology findings
during the follow up are summarized in Table 1.
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