There are several additional familial and congenital disorders associated with atypical inclusions in white cells. These individual syndromes carry the following names: Fechtner, Alport, Epstein, Sebastian, and Paris-Trousseau.
Fechtner syndrome (Peterson et al,Blood 65:397-406,1985) was described with 8 family members spanning 4 generations presenting with varying degrees of nephritis, deafness, and congenital cataracts. The syndrome is likely a variant of Alport syndrome with the addition of leukocyte inclusions and macrocytothemia. Several more cases involving other families have been reported. The inclusions resemble toxic Döhle bodies or those of the May-Hegglin anomaly by light microscopy, but are ultrastructurally unique.
Alport syndrome is autosomal dominant, X-linked, hereditary and characterized by sensorineural deafness and hereditary nephritis. It is believed to result from abnormal glycopeptide synthesis in renal basement membranes. Recurrent hematuria and slowly progressive renal insufficiency are clinical findings. Cataracts and platelet abnormalities may be added features.
Epstein syndrome is essentially Alport syndrome with the addition of macrothrombocytopenia (Seri, et al. Hum Genet 110:182-186, 2002). Neutrophil inclusions are absent in this disorder; neutrophilic inclusions are considered part of the Fechtner syndrome.
The Sebastian platelet syndrome is a variant of hereditary macrothrombocytopenia combined with neutrophil inclusions that differ from Döhle bodies, but are similar to those inclusions in Fechtner syndrome. (Greinacher, et al, Blut 61:282-288, 1990).
Paris-Trousseau syndrome includes large platelets containing giant alpha granules identifiable in the peripheral blood (Breton-Gorius, Blood 85:1805,1995).