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Very rare syndrome characterized by hemolytic anemia
of unknown origin associated with early-onset emphysema and cutis laxa. Poor
prognosis.
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Cutis Laxa, Emphysema, and Hemolytic Anemia; Emphysema
Hemolytic Anemia Syndrome.
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Extremely rare (three cases
described in consanguineous family); autosomal recessive.
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Features include severe congenital hemolytic
anemia, early-onset pulmonary emphysema, diffuse pulmonary giant cell
infiltration, hemorrhagic adrenal necrosis, cutis laxa. Two of the three
cases described died of septic shock before 7 years of age.
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Evaluate severity of anemia (clinical,
full blood count), and respiratory function (clinical, chest radiographs,
CT, pulmonary function test, arterial blood gas analysis).
Anderson CE, Finklestein JZ, Nussbaum E, et al: Association of hemolytic
anemia and early onset pulmonary emphysema in three siblings. J Pediatr105:247,
1984.