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Familial case of may‐hegglin anomaly associated with familial spastic paraplegia
Author(s) -
Fujita Yukihisa,
Fujii Tsuneo,
Nishio Akira,
Tuboi Kazuhiko,
Tsuji Katuhiko,
Nakamura Mituo
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830350317
Subject(s) - paraplegia , hereditary spastic paraplegia , spastic , medicine , gait disturbance , gait , pediatrics , physical medicine and rehabilitation , spinal cord , cerebral palsy , biology , phenotype , genetics , psychiatry , gene
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.