Familial case of may‐hegglin anomaly associated with familial spastic paraplegia
- 1 November 1990
- journal article
- research article
- Published by Wiley in American Journal of Hematology
- Vol. 35 (3) , 219-221
- https://doi.org/10.1002/ajh.2830350317
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.Keywords
This publication has 8 references indexed in Scilit:
- Fechtner syndrome: Clinical and genetic aspectsAmerican Journal of Medical Genetics, 1988
- Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopeniaBlood, 1985
- FECHTNER SYNDROME - A VARIANT OF ALPORTS-SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA1985
- Evidence that Charcot-Marie-Tooth disease with tremor coincides with the Roussy-Levy syndromeCanadian Journal of Neurological Sciences, 1984
- Megathrombocytopenia Associated with Glomerulonephritis, Deafness and Aortic Cystic MedianecrosisScandinavian Journal of Haematology, 1978
- Hereditary nephritis, deafness and abnormal thrombopoiesisThe American Journal of Medicine, 1976
- Hereditary Thrombocytopenia, Deafness, and Renal DiseaseAnnals of Internal Medicine, 1975
- Hereditary macrothrombocytopathia, nephritis and deafnessThe American Journal of Medicine, 1972