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Year : 2014  |  Volume : 2  |  Issue : 3  |  Page : 235

An unusual cause of pancytopenia in early age

Date of Web Publication11-Oct-2014

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How to cite this article:
. An unusual cause of pancytopenia in early age. Saudi J Med Med Sci 2014;2:235

How to cite this URL:
. An unusual cause of pancytopenia in early age. Saudi J Med Med Sci [serial online] 2014 [cited 2020 Jun 2];2:235. Available from: http://www.sjmms.net/text.asp?2014/2/3/235/142585

A 7-year-old child presented with complains of intermittent fever, weakness and pallor of 2 months duration. There was no history of bleeding from any site. The patient had received 4 units of packed red blood cell transfusion in a local hospital. He had an elder sister of 11 year old who was apparently normal. On examination, he had moderate pallor, reticulated pigmentation of the upper torso and upper extremities [Figure 1], ridged and atrophic nails on fingers [Figure 2]a and toes [Figure 2]b, white patch (leukoplakia) on the dorsal surface of the tongue [Figure 3]. This whitish patch could not be scraped. There was no organomegaly or lymphadenopathy. Hemogram showed Hb-8.6 gm%, total leukocyte count −3.8 × 10 3/μl with neutrophil-05%, lymphocyte-89%, monocyte-04%, eosinophil-02%, basophil-00%). His absolute neutrophil count was 190/μl, platelet count-6,000/μl and corrected reticulocyte count-0.6%. His serum ferritin value was 187.4 ng/ml and serum, liver function test, urea and creatinine values were within normal limits. Ultrasonography of abdomen was normal. Bone marrow (BM) aspiration and trephine biopsy examination revealed hypoplastic marrow with 15% cellularity. Chromosomal breakage analysis was normal.
Figure 1: Reticulated pigmentation of the upper torso and upper extremities

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Figure 2:

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Figure 3: Whitish patch (leukoplakia) on the dorsal surface of the tongue

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  Question Top

What is the diagnosis?

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  References Top

Zinsser F. Atrophy of the skin with pigmentione network, dystrophy nails and leukoplakia of the mouth. Ikonogr Dermatol (Hyoto) 1906;5:219-23.  Back to cited text no. 1
Davidson HR, Connor JM. Dyskeratosis congenita. J Med Genet 1988;25:843-6.  Back to cited text no. 2
Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol 2009;145:164-72.  Back to cited text no. 3
Dror Y, Freedman MH. Inherited forms of bone marrow failure. In: Hoffman R, Benz EJ Jr, Silberstein LE, Heslop H, Weitz J, Anastasi J, et al., editors. Hematology Basic Principles and Practice. 6 th ed. Philadelphia USA: Elsevior Saunders; 2013. p. 307-49.  Back to cited text no. 4
Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. Dyskeratosis Congenita (DC) Registry: Identification of new features of DC. Br J Haematol 1998;103:990-6.  Back to cited text no. 5
Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680-5.  Back to cited text no. 6


  [Figure 1], [Figure 2], [Figure 3]


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