Nisar Ahmed, Sajid Maqbool, Qamar Uz Zaman, Khalid Mahmood.
Chediak - Higashi Syndrome (CHS).
Pak Paed J Jan ;27(3):137-8.

A 13 months old female baby resident of Khanewal presented on 10.11.2000 at emergency department of Children`s Hospital Lahore with complaints of fever, pallor & abdominal distension for the last 28 days. She had past h/o recurrent infections of respiratory, gastrointestinal & skin, starting from the age of 3 months for which repeated courses of antibiotics were given. She was delivered at full term of consanguineous marriage weighing 3.2 kg with good apgar score. Her brother died with similar complaints at the age of 11 months. On examination baby was pale, lethargic, temperature was 103°F, heart rate 164/min blood pressure 90/60 mm Hg, respiratory rate 52/minute, hypopigmented skin, liver was 6 cm & spleen was 10 cm below the costal margin. Lab investigations showed haemoglobin 9.9 gm/dl, WBC 3.9x10e9/L, Neutrophils 10% L 63%, M 14%, E 03%, platelets 164x10e9/L, ESR 54 mm in first hour, peripheral blood & bone marrow films showed giant granules in granulocytes, monocytes & lymphocytes. Liver function, renal function, widal test, urine & blood culture were normal. She was diagnosed Chediak - Higashi Syndrome & was treated with appropriate antibiotics, ascorbic acid, blood component transfusion & GM - CSF injections. Her fever settled with improvement of symptoms, normalization of white blood counts & discharged in afebrile condition. The hall mark of CHS is giant organelles & giant granules in many different cells, most likely the result of defective trafficking of specific organellar & granular protein necessary for normal genesis, structure or function of these cytoplasmic components. The CHSI gene has recently has identified & shown to be homologous to the beige locus of mouse. The abnormal giant granules of CHS neutrophils are derived from both Azurophil & specific granules.

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