Six-year-old boy with recurrent infection and bruising
A six-year-old boy had suffered lifelong infections, including recurrent pneumonia,
sinusitis, and multiple staphylococcal skin abscesses. He also complained of
sun sensitivity and photophobia. The patient also had frequent spontaneous
bruising. Neither parent had similar problems.
On physical examination, the patient had silvery hair and fair skin. He had
nystagmus and ataxia. There was no lymphadenopathy or hepatosplenomegaly. Blood
counts were: hemoglobin 12.5 g/dL; platelets 180,000/mm3; WBC 2,300/mm3 with
35 percent neutrophils. The peripheral smear is shown.
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Comment:
This patient has recurrent bacterial infections, a mild bleeding
diathesis, neurologic abnormalities, and partial oculocutaneous albinism. In
this clinical context, the giant granules in the peripheral blood granulocytes
and large eosinophilic inclusions in lymphocytes in a Wright-stained blood
film are diagnostic of Chediak-Higashi syndrome (The abnormal granules would
stain positively with peroxidase). Chediak-Higashi syndrome is a rare, autosomal
recessive disease caused by a defect in granule morphogenesis that results
in abnormally large granules in many tissues; for example, the albinism is
due to defective pigment distribution in melanocytes containing giant melanosomes.
The dysmorphic granules in blood phagocytes are deficient in antimicrobial
hydrolytic enzymes. Recurrent bacterial and fungal infections are caused by
abnormalities of chemotaxis, phagocytosis, and intracellular killing, compounded
by characteristic mild neutropenia. Abnormal platelet function is due to acquired
storage pool disease. Children who survive into the second decade of life often
develop an accelerated phase of the disease, possibly precipitated by EBV infection,
that resembles virus-associated hemophagocytic syndrome and is typically fatal.
In the stable phase, stem cell transplantation may be curative. Palliative
therapy includes ascorbic acid and prophylactic antibiotics.
- Images from the ASH Image Bank, contributed by John Lazarchick, M.D.
- Text by Andrew I. Schafer, M.D.
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