|Year : 2017 | Volume
| Issue : 6 | Page : 592-594
Congenital multiple exostoses with congenital heart disease
Ibrahim Aliyu1, Teslim O Lawal2
1 Department of Paediatrics, Aminu Kano Teaching Hospital, Bayero University Kano, Kano, Nigeria
2 Department of Paediatrics, Federal Medical Centre, Birnin Kebbi, Nigeria
|Date of Submission||14-Mar-2017|
|Date of Acceptance||15-May-2017|
|Date of Web Publication||17-Jan-2018|
Dr. Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Source of Support: None, Conflict of Interest: None
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.
Keywords: Congenital malformation, multiple exostoses, ventricular septal defect, wasting
|How to cite this article:|
Aliyu I, Lawal TO. Congenital multiple exostoses with congenital heart disease. Med J DY Patil Univ 2017;10:592-4
| Introduction|| |
Multiple exostoses are a rare disorder. It is estimated to occur in 1 in 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected, often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). They are often asymptomatic but may present with discomfort and pain, especially, if entrapping nerves and tendons. However, there is a risk of malignant transformation in about 1%–25% of cases into a secondary peripheral osteochondrosarcoma., They may be associated with other disorders such as metachondromatosis, fibrodysplasia ossificans progressiva, trichorhinophalangeal syndrome Type II, and only a case reported with ventricular septal defect; therefore, the case of a week old who presented with multiple exostoses, ventricular septal defect, and failure to thrive who was the second a twin delivery is hereby reported.
| Case Report|| |
A 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with a complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins (the limb X-ray showed it was ossified, arising from the tibia [Figure 1]); there was also widening of the web between the first toe and second toes; the pulse rate was 144 beats/min, the apex beat was at the fourth left intercostal space midclavicular line, and also she had a first and second heart sounds with a pansystolic murmur maximal at the left lower sternal margin; the chest examination was not remarkable. The electrolytes were normal, but she was anemic with a pack cell volume of 28% and was also hypoglycemic with a random blood sugar was 1.5 mmol/L. The chest X-ray was not remarkable [Figure 2], but electrocardiography and echocardiography were not done due to nonavailability of the machines. She had blood transfusion, and the hypoglycemia was corrected.
|Figure 2: X-ray of the lower limbs showing bony exostoses arising from the tibia|
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| Discussion|| |
Hereditary multiple exostoses are a heterogeneous genetic disorder, however, about 90% of cases are associated with germ cell line mutation, it is autosomal dominant with a positive family history in about 62% of cases; mutations linked to chromosome 8q24.1 (EXT 1), chromosome 11p13 (EXT 2), and short arm of chromosome 19 (EXT 3) have been implicated; however, sporadic cases are estimated to be six times more common. These genes regulate the synthesis of the EXT protein which serves as an enzyme in the production of heparan sulfate; these mutations result in production of truncated EXT proteins; however, the role of a truncated EXT protein in the pathogenesis of human monocytic ehrlichiosis (HME) is not clear. This index case had no family history of similar problem which explains the possibility of a sporadic mutation, more so the second twin was not affected. HME is more common in males though the index case was a female.
The median age of diagnosis of HME is 3 years and only 5% have been established at birth while almost 96% are established by the age of 12 years, but this index case was congenital. Orthopedic deformities are common concomitants with HME resulting in short stature, bowing of the limbs, but its association with prematurity, intrauterine growth restricted, and failure to thrive is a rare occurrence; why these occurred is not clearly understood, but this may possibly explain a new syndrome which hitherto had not been reported before now. Furthermore, despite adequate nutritional rehabilitation with nasogastric tube feeding, there was no significant weight gain; therefore, genetic predisposition is not unlikely in the index case; especially, noting the fact that the first twin was thriving. The diagnosis of HME is mainly clinically and radiologically based  which this index case fulfilled but inability to do genetic studies is a limitation in this study, which would have further delineated the possible malformation or even defined a new syndrome.
| Conclusion|| |
This report highlights an unusual congenital malformation consisting of multiple exostoses with a ventricular septal defect; however, we acknowledge the lack of DNA analysis which probably would have described a novel malformation as a limitation.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]