A female infant was diagnosed with albinism in infancy. Her development was delayed and she suffered from easy bruising and recurrent infections, including skin abscesses and otitis media. At the age of 6 years and 2 months a full blood examination was performed which revealed abnormal neutrophil granules. Further investigations included bone marrow morphology, skin biopsy and hair microscopy. The blood and bone marrow findings showed abnormal giant granules in the neutrophils and lymphocytes in keeping with a diagnosis of Chediak-Higashi Syndrome (CHS). There was an absence of pigment in the basal layer of the skin. The microscopy of the hair showed fine hair shafts. The medulla was not generally pigmented but a few clumps of melanin pigment were present. Scanning electron microscopy was performed and the scale pattern of the cuticles was normal. The cross-sectional profiles of the hairs were circular. The appearances in the skin biopsy and the hair examination supported the diagnosis of Chediak-Higashi Syndrome. She underwent a related allogenic (sibling) bone marrow transplantation at the age of 7 years and 5 months, complicated by several episodes of line infections, CMV reactivation, Cyclosporin-related renal impairment, hypertension and chronic liver graft-versus-host disease (GVHD). She is currently alive and well on long term steroid therapy for her chronic GVHD.
Conclusion: The use of hair examination is a non-invasive method of obtaining support for a diagnosis of a variety of syndromes, including the Chediak-Higashi Syndrome.