Accelerated Phase of Chediak-Higashi Syndrome at Initial Presentation: A Case Report of an Uncommon Occurrence in a Rare Disorder
Published: December 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.6906
Pooja Jaiswal, Yogesh Kumar Yadav, Nilam Bhasker, Rashmi Kushwaha
1. Assistant Professor, Department of Pathology, Integral Institute of Medical Sciences and Research, Lucknow, U.P., India.
2. Assistant Professor, Department of Pathology, Integral Institute of Medical Sciences and Research, Lucknow, U.P., India.
3. Resident, Department of Pathology, Integral Institute of Medical Sciences and Research, Lucknow, U.P., India.
4. Assistant Professor, Department of Pathology, King George Medical University, Lucknow, U.P., India.
Correspondence
Dr. Yogesh Kumar Yadav,
145, A-Block, South City, Lucknow, UP, India.
E-mail: dr.yogi007@gmail.com
Chediak-Higashi syndrome (CHS) is an uncommon and fatal congenital disorder. The characteristic features of CHS are partial oculocutaneous albinism, increased vulnerability to infections, presence of abnormal large granules in leukocytes and an accelerated lymphohistiocytic phase. Accelerated phase at initial presentation is rarely seen as it is usually preceded by repeated episodes of infections. Hence this interesting case of a four-month-old Indian child born to consanguineous parents in accelerated phase at initial presentation is described. The boy presented with fever, hepatosplenomegaly, and cleft lip. Clinical diagnosis was leukemia or a lysosomal storage disorder. Cytopaenias, lymphohistiocytic infiltration in bone marrow, and the characteristic large granules in leucocytes helped in the diagnosis, emphasizing the importance of bone marrow in diagnosis of unusual presentation of this rare disorder.
[
FULL TEXT ] | [ PDF]