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Year : 2013  |  Volume : 56  |  Issue : 3  |  Page : 315-316
A 1-year-old male child with recurrent respiratory infections since birth


Department of Haematology, All India Institute of Medical Sciences, New Delhi, India

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Date of Web Publication24-Oct-2013
 

How to cite this article:
Mutreja D, Kotru M, Tyagi S. A 1-year-old male child with recurrent respiratory infections since birth . Indian J Pathol Microbiol 2013;56:315-6

How to cite this URL:
Mutreja D, Kotru M, Tyagi S. A 1-year-old male child with recurrent respiratory infections since birth . Indian J Pathol Microbiol [serial online] 2013 [cited 2020 Feb 20];56:315-6. Available from: http://www.ijpmonline.org/text.asp?2013/56/3/315/120410


A 1-year-old male child, second born of a consanguineous marriage, was brought with history of recurrent fever and chest infections since birth. His elder female sibling had died at the age of 1 year due to a similar undiagnosed illness. Physical examination showed metallic sheen to hair and generalized albinism with hyperpigmented macules on the skin [Figure 1]a and b. Generalized lymphadenopathy and hepatosplenomegaly were noted. A complete blood count showed reduced total leukocyte count of 1800/μl with neutropenia (neutrophils 12%, lymphocytes 82%, monocytes 4%, and eosinophils 2%). Platelets were reduced (100 × 10 3 /μl). Microscopic examination of peripheral smear showed multiple irregular, slate gray to blue-colored intracytoplasmic granules in neutrophils, monocytes, and lymphocytes [Figure 2]a and b. Bone marrow aspirate smears showed similar giant granulation showing characteristic positivity on Sudan Black staining. Hemophagocytosis was also noted [Figure 2]c and d. Serum fibrinogen was 100 mg/dl (normal 200-400 mg/dl) and serum ferritin was 1200 ng/ml (normal 20-250 ng/ml). A diagnosis of accelerated phase of the Chediak-Higashi Syndrome (CHS) was made. The patient was managed with intravenous antimicrobials and ascorbate and showed clinical improvement, and a bone marrow transplant was advised.
Figure 1: (a and b) Metallic sheen to hair, generalized albinism with hyperpigmented macules on skin. (Note: Compare with skin tone of mother's hand in the picture)

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Figure 2:

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   Discussion Top


CHS is a rare childhood autosomal recessive disorder of defective phagolysosome function caused by mutations in the CHS1/LYST (lysosyme trafficking regulator gene) gene localized to 1q42-43. The affected children manifest frequent and severe pyogenic infections of the skin and respiratory tract, secondary to abnormal neutrophil function. [1],[2] The abnormal granules in melanocytes dilute the pigment and, hence, cause partial albinism. [3]

The clinical differential diagnoses entertained in this case were Griscelli Syndrome and Hermansky Pudlak Syndrome. Both these disorders have the characteristic oculocutaneous albinism; however, they lack the giant granules seen in CHS. Most patients eventually enter the accelerated phase shortly after birth or within several years. [4] In a clinical setting of a child presenting with recurrent respiratory infections since birth and oculocutaneous albinism on examination, careful examination of the peripheral blood smear needs to be overemphasized.

 
   References Top

1.Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002;2:469-77.  Back to cited text no. 1
    
2.Scherber E, Beutel K, Ganschow R, Schulz A, Janka G, Stadt Uz. Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS). Clin Genet 2009;76:409-12.  Back to cited text no. 2
    
3.Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi Syndrome: A rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res 2002;15:251-7.   Back to cited text no. 3
    
4.Pullarkat ST. Accelerated phase of Chediak-Higashi syndrome. Blood 2012;119:5.  Back to cited text no. 4
    

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Correspondence Address:
Deepti Mutreja
Department of Haematology, All India Institute of Medical Sciences, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.120410

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