Table of Contents  
CASE REPORT
Year : 2017  |  Volume : 10  |  Issue : 6  |  Page : 592-594  

Congenital multiple exostoses with congenital heart disease


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 Submission14-Mar-2017
Date of Acceptance15-May-2017
Date of Web Publication17-Jan-2018

Correspondence Address:
Dr. Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/MJDRDYPU.MJDRDYPU_50_17

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  Abstract 


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

How to cite this URL:
Aliyu I, Lawal TO. Congenital multiple exostoses with congenital heart disease. Med J DY Patil Univ [serial online] 2017 [cited 2020 Feb 25];10:592-4. Available from: http://www.mjdrdypu.org/text.asp?2017/10/6/592/223394




  Introduction Top


Multiple exostoses are a rare disorder. It is estimated to occur in 1 in 50,000 pregnancies.[1] 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.[2] It is known as hereditary multiple exostoses, hereditary multiple osteochondromas,[3] 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,[4] 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.[5],[6] They may be associated with other disorders such as metachondromatosis,[7] fibrodysplasia ossificans progressiva,[8] trichorhinophalangeal syndrome Type II,[9] and only a case reported with ventricular septal defect;[10] 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 Top


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 1: Multiple lower limbs exostoses

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Figure 2: X-ray of the lower limbs showing bony exostoses arising from the tibia

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  Discussion Top


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;[10] mutations linked to chromosome 8q24.1 (EXT 1),[11] chromosome 11p13 (EXT 2),[12] and short arm of chromosome 19 (EXT 3)[13] 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.[13] 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,[14] 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 [14] 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 Top


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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, et al. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br 2004;86:1041-6.  Back to cited text no. 1
[PUBMED]    
2.
Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, et al. EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet 1999;65:689-98.  Back to cited text no. 2
    
3.
Bovée JV, Hogendoorn PC. Multiple osteochondromas. In: Fletcher CD, Unni KK, Mertens F, editors. World Health Organization Classification of Tumours, Pathology and Genetics of Tumours of Soft Tissue and Bone. Lyon, France: IARC Press; 2002. p. 360-2.  Back to cited text no. 3
    
4.
Mark DA, Holger P. The WHO manual of diagnostic imaging. In: Holger P, Harald O, editors. Radiographic anatomy and interpretation of the musculoskeletal system. Geneva: World Health Organization; 2002. p. 177-89.  Back to cited text no. 4
    
5.
Schmale GA, Conrad EU 3rd, Raskind WH. The natural history of hereditary multiple exostoses. J Bone Joint Surg Am 1994;76:986-92.  Back to cited text no. 5
    
6.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, et al. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet 2011;7:e1002050.  Back to cited text no. 6
    
7.
Feldman G, Li M, Martin S, Urbanek M, Urtizberea JA, Fardeau M, et al. Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. Am J Hum Genet 2000;66:128-35.  Back to cited text no. 7
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8.
Shin HT, Chang MW. Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome). Dermatol Online J 2001;7:8.  Back to cited text no. 8
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9.
Hamouda H, Abdul Hassan S, Al-Awadi S. Hereditary multiple exostoses, macrocephaly, congenital heart disease, developmental delay, and mental retardation in a female patient: A possible new syndrome? Or new association? Egypt J Med Hum Genet 2011;12:95-8.  Back to cited text no. 9
    
10.
Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am J Hum Genet 1993;53:71-9.  Back to cited text no. 10
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11.
Arai T, Akiyama Y, Nagasaki H, Murase N, Okabe S, Ikeuchi T, et al. EXTL3/EXTR1 alterations in colorectal cancer cell lines. Int J Oncol 1999;15:915-9.  Back to cited text no. 11
[PUBMED]    
12.
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, et al. Agene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet 1994;3:717-22.  Back to cited text no. 12
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13.
Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet 1997;52:12-6.  Back to cited text no. 13
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14.
Wuyts W, Schmale GA, Chansky HA, Raskind WH. Hereditary Multiple Osteochondromas. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1235/. [Last accessed on 2017 Jan 15].  Back to cited text no. 14
    


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  [Figure 1], [Figure 2]



 

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