This case appeared on one of the Facebook groups I follow:
"6 month old male with episodes of blood in stool. ? allergy to dairy products. Severe eczema, especially over diaper area.
Normal birth weight. Baby had some sores in his throat but resolved with antibiotics. He had folliculities on his abdomen but improved with antibiotics. He is on Glaxal based cream and hydrocortisone cream.
Family history: Brother had 2 episodes of bloody stool, asthma. Aunt has eczema. Mom and dad are healthy."
Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. Patients with CHS exhibit hypopigmentation of the skin, eyes, and hair; prolonged bleeding times; easy bruisability; recurrent infections; abnormal natural killer cell function; and peripheral neuropathy.
Morbidity results from patients succumbing to frequent bacterial infections or to an accelerated-phase lymphoproliferation into the major organs of the body.
Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes.
http://emedicine.medscape.com/article/1114607-overview
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