This syndrome occurs only in males and is
characterized by eczema, profound thrombocytopenia, and frequent infections
as a result of a defect in both T- and B-cell function. Death frequently
occurs during childhood.
Eczematous and hemorrhagic skin changes in an infant boy with Wiskott-Aldrich syndrome.
Eczema-Thrombocytopenia-Immunodeficiency Syndrome; Aldrich-Huntley Syndrome;
Aldrich-Dees Syndrome; Aldrich-Wiskott Syndrome; Wiskott Syndrome;
Wiskott-Aldrich-Huntley Syndrome; Wiskott-Aldrich-Dees Syndrome.
Inherited immune deficiency that was first described by
Alfred Wiskott, German pediatrician in 1937, and characterized by Robert
Anderson Aldrich, American pediatrician in 1954.
Transmitted as an X-linked recessive trait.
Caused by mutation in the WAS gene located at
Onset generally occurs before 3 years of age in a boy
with hemorrhagic signs, thrombocytopenia with small-size platelets, recurrent
infections, and eczema. Early prenatal diagnosis can be made by trophoblast
Mental retardation is frequent. Infections are recurrent
and can include the orolaryngotracheal system, the lungs, meningitis, and diarrhea. Hemorrhagic signs can involve
epistaxis, oral bleeding, hematemesis, melena, petechiae, and purpura;
bleeding time is prolonged. Eczema is very frequent, nephropathy and signs of
autoimmunity are often observed, and there is an increased risk of
malignancy (particularly lymphoma). Laboratory investigations can show thrombocytopenia (with
small-size platelets), anemia (hemolytic, iron deficiency), small and large
vessel vasculitis, and sialophorin defectively expressed on surface of blood
cells. Immunological patterns concern depressed antibody response to
polysaccharide antigens, lymphopenia, abnormal delayed hypersensitivity skin
test, absent microvilli on the surface of peripheral blood lymphocytes,
increased IgA and IgE levels, decreased IgM levels, raised erythrocyte
sedimentation rate and C-reactive protein.
It is recommended to obtain an anesthesiology
consultation before elective surgical procedures. One must obtain a complete medical history and
physical examination. Evaluate
pulmonary function because of recurrent lung infections (clinical, chest
radiographs, CT scan, pulmonary function test with arterial blood gas analysis),
cardiac function because of autoimmune vasculitis that can affect coronary
arteries (clinical, ECG, echocardiography if necessary), renal function
(clinical, urea, creatinine, electrolytes), neurological function because of
the frequent intracranial hemorrhage (clinical, CT), and bleeding risk
(clinical, platelet count, bleeding time, red blood cell count).
Strict asepsis is needed. Avoid all
Perimedullar blockade should be avoided because of the
hemorrhagic risk. Benefit of peripheral regional anesthesia has to be
Anesthetic drugs and fluid regimens
have to be adapted to renal function. Consider these patients as
immunodeficient when providing prophylactic antibiotherapy. Preoperative
steroid stress doses are required in cases of long-term treatment. Blood
products must be irradiated to prevent graft versus host reaction.
Nezelof Syndrome: A group of rare,
inherited disorders characterized by recurrent infections because of the
impairment of the T lymphocyte system and, in some cases, the B lymphocyte