In:
Military Medical and Pharmaceutical Journal of Serbia, National Library of Serbia, Vol. 71, No. 4 ( 2014), p. 395-398
Abstract:
Introduction. The group of autosomal dominant disorders - Epstein syndrome,
Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are
characterised by thrombocytopenia with giant platelets, inclusion bodies in
granulocytes and variable levels of deafness, disturbances of vision and
renal function impairment. A common genetic background of these disorders are
mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA.
Differential diagnosis is important for the adequate treatment strategy. The
aim of this case report was to present a patient with MYH9 disorder in
Serbia. Case report. A 16-year-old boy was referred to our hospital with the
diagnosis of resistant immune thrombocytopenia for splenectomy.
Thrombocytopenia was incidentally discovered at the age of five. The
treatment with corticosteroids on several occasions was unsuccessful.
Although the platelet count was below 10 ? 109/L, there were no bleeding
symptoms. Besides thrombocytopenia with giant platelets, on admission the
patient also suffered sensorineuronal hearing loss and proteinuria. The
diagnosis was confirmed with immunofluorescence and genetic analyses.
Conclusion. Early recognition of MYH9-related diseases is essential to avoid
unnecessary and potentially harmful treatments for misdiagnosed immune
thrombocytopenia, and also for timely and proper therapy in attempt to delay
end-stage renal failure and improve quality of life.
Type of Medium:
Online Resource
ISSN:
0042-8450
,
2406-0720
DOI:
10.2298/VSP121127001K
Language:
English
Publisher:
National Library of Serbia
Publication Date:
2014
detail.hit.zdb_id:
2169819-3
SSG:
15,3
