Pelger-Huet-Like Anomaly And Episodic Fever With Abdominal Pain

Murros and Konttinen (1974) described a family in which 4 sisters suffered from recurrent attacks of abdominal pain and fever, consistent with the diagnosis of familial Mediterranean fever (249100). The 4 sisters had a Pelger-Huet-like abnormality of the polymorphs. Of the neutrophils, 45 to 66% were unsegmented; 26 to 46% of eosinophils were unsegmented. The mother of the sisters, one of their brothers, and the son of one of the sisters showed an intermediate defect (13 to 19% unsegmented neutrophils, normally segmented eosinophils) and no attacks. The father of the sisters and his sibs were all unavailable for study, but had no attacks. A brother and sister of the sister and the daughter of one of them had normal leukocytes and no attacks. Possibly this is a new autosomal recessive syndrome, with expression only in the leukocytes in heterozygotes.