Very rare syndrome characterized by hemolytic anemia
of unknown origin associated with early-onset emphysema and cutis laxa. Poor
Cutis Laxa, Emphysema, and Hemolytic Anemia; Emphysema
Hemolytic Anemia Syndrome.
Extremely rare (three cases
described in consanguineous family); autosomal recessive.
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.
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,