title: Familial case of May-Hegglin anomaly associated with familial spastic paraplegia.
abstract: We report a family with May-Hegglin anomaly associated with familial spastic paraplegia. The propositus was a 39 year old male. His peripheral blood showed a Döhle-like inclusion bodies in WBC, giant platelets, and thrombocytopenia. He had been suffering from progressive gait disturbance of spastic paraplegia since 20 years old. He was in a state of chronic renal failure and showed sensory hearing impairment. His two children showed similar hematological abnormalities and spastic gait. As far as we know, this is the first case of May-Hegglin anomaly associated with familial spastic paraplegia in the literature.
authors.affiliation: Department of Internal Medicine, Shakai Hoken Kobe Central Hospital, Kobe, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Fujita
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: A
authors.initials: A
authors.lastname: Nishio
authors.forename: K
authors.initials: K
authors.lastname: Tuboi
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000473:pathology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000097:blood* / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008297:Male; D009504:Neutrophils / Q000473:pathology / Q000648:ultrastructure; D015419:Spastic Paraplegia, Hereditary / Q000097:blood / Q000150:complications* / Q000473:pathology