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A Rare Case of Multiple Osteochondromas with Short Metatarsals and Seizure


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1 PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
     

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Multiple Osteochondromas desribed first in 1786 is an autosomal dominant inherited disorder with 100% penetrance manifesting more in males (M:F =1. 5:1) with a prevalence rate of 1:50000. The defect involves the tumour suppressor gene EXT 1 and EXT2. They appear in first decade of life with two or more bony outgrowths from the end of growing long bones and grow till puberty. They can arise from any bone except facial bones. They present with pain and symptoms due to pressure effects on the nerves, muscles, tendons, ligaments, brain and spinal cord and cause many type of deformities. Brachydacty l and relative shortening of metatarsals as well as possibility of seizure consequent to exostoses of skull bones have been described but has rarely been reported. Here we are presenting a case of MO with distinct shortening of metatarsals and seizure.

Keywords

Osteochondromas, Brachydactyl, Seizure, Exostoses.
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  • A Rare Case of Multiple Osteochondromas with Short Metatarsals and Seizure

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Authors

N. K. Sundaray
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
Srikant Kumar Dhar
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
P. K. Tudu
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
S. C. Das
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
Bijendra Mohanty
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India
Gourab Arun
PG Department of Medicine, IMS and SUM Hospital, Siksha “O” Anusandhan University, K8, Kalinganagar, Bhubaneswar, Odisha, India

Abstract


Multiple Osteochondromas desribed first in 1786 is an autosomal dominant inherited disorder with 100% penetrance manifesting more in males (M:F =1. 5:1) with a prevalence rate of 1:50000. The defect involves the tumour suppressor gene EXT 1 and EXT2. They appear in first decade of life with two or more bony outgrowths from the end of growing long bones and grow till puberty. They can arise from any bone except facial bones. They present with pain and symptoms due to pressure effects on the nerves, muscles, tendons, ligaments, brain and spinal cord and cause many type of deformities. Brachydacty l and relative shortening of metatarsals as well as possibility of seizure consequent to exostoses of skull bones have been described but has rarely been reported. Here we are presenting a case of MO with distinct shortening of metatarsals and seizure.

Keywords


Osteochondromas, Brachydactyl, Seizure, Exostoses.



DOI: https://doi.org/10.37506/v10%2Fi12%2F2019%2Fijphrd%2F192009