|
 
 |
| CASE REPORT |
|
| Year : 2021 | Volume
: 2
| Issue : 1 | Page : 40-42 |
|
Plain radiographic diagnosis of “osteogenesis imperfecta congenita” (Type III) in a 2-year-old boy
Bello O Usman, Fatai A Oyewole, Lawal Suleiman
Department of Radiology, Faculty of Clinical Science, College of Medical Sciences, Ahmadu Bello University, Zaria, Nigeria
| Date of Submission | 28-Jul-2020 |
| Date of Decision | 11-Aug-2020 |
| Date of Acceptance | 16-Aug-2020 |
| Date of Web Publication | 22-Jun-2021 |
Correspondence Address:
Bello O Usman
Department of Radiology, Faculty of Clinical Sciences, College of Medical Sciences, Ahmadu Bello University, Zaria
Nigeria
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/JRMT.JRMT_28_20
Osteogenesis imperfecta (OI), or brittle bone disease, is a rare disorder with congenital bone fragility caused by mutations in the genes. This case is reported because of its rarity and paucity in the literature in Nigeria. Available data on OI in Black African children are limited.
Keywords: Growth retardation, osteogenesis imperfecta, plain radiograph
How to cite this article:
Usman BO, Oyewole FA, Suleiman L. Plain radiographic diagnosis of “osteogenesis imperfecta congenita” (Type III) in a 2-year-old boy. J Radiat Med Trop 2021;2:40-2 |
How to cite this URL:
Usman BO, Oyewole FA, Suleiman L. Plain radiographic diagnosis of “osteogenesis imperfecta congenita” (Type III) in a 2-year-old boy. J Radiat Med Trop [serial online] 2021 [cited 2023 Jun 4];2:40-2. Available from: http://www.jrmt.org/text.asp?2021/2/1/40/319109 |
| Introduction | |  |
Osteogenesis imperfecta (OI), or brittle bone disease, is a rare disorder with congenital bone fragility caused by mutations in the genes that codify for Type I procollagen production in the osteoblasts (COL1A1 and COL1A2), located in the chromosomes 7 and 17.[1] The classical manifestation is a triad of fragile bones, blue sclera, and early deafness.
The prevalence of OI is estimated to be 1 in 20,000–50,000 infants,[2] and there are no racial, ethnic, or sex differences and age of onset varies with type.
The original Sillence classification of OI into four types (OI Type I–IV) was based on the clinical findings and mode of inheritance, with a radiological subclassification of Type II into A, B, and C.[3] However, this has been expanded over the years to include OI Types I–VIII.[4]
Identification of various types of OI is important in deciding the therapeutic approach and also predicting the prognosis of the condition.
Available data on OI in Black African children are limited; however, some cases have been reported in African children including twins in Kenya[5] and Nigeria.[6]
This case is reported because of its rarity and its paucity in the literature in Nigeria.
| Case Report | | |
M.Y. is a 2-year-old male child who presented with over 1-year history of painful limb swelling and growth retardation at the Pediatrics Clinic of Ahmadu Bello University Teaching Hospital, Zaria.
He was a product of a full-term unbooked pregnancy delivered at a peripheral hospital via spontaneous vaginal delivery. He was the fourth child of a 28-year-old full-time homemaker who has had one previous history of stillbirth. Her spouse is of low financial status.
There was no previous history of similar condition or of any other congenital malformations in the family. There was no history of trauma or child abuse, but the developmental milestones were delayed.
On general physical examination, he was found to be inactive, afebrile with blue sclera and patent anterior fontanelle. Multiple tender swellings of the upper and lower limbs and pectus excavatum were noted. In view of the above presentation, a clinical impression of OI was made with rickets as a differential diagnosis.
Plain radiographs of the upper and lower limbs that were done revealed multiple healing diaphyseal fractures, with callus formation affecting all the visualized long bones [Figure 1] and [Figure 2]. Associated abnormal angulations and swelling of the overlying soft tissue were also noted. The jaw radiograph was unremarkable. | Figure 1: (a and b) Anteroposterior radiograph of the upper limbs showing multiple healed fractures, with callus formation affecting all long bones with fresh unhealed fractures of the radius and ulna bilaterally. There are multiple abnormal angulations (arrow)
Click here to view |
 | Figure 2: Frontal radiograph of the lower limbs showing outward bowing of the knee joints and multiple healed fractures with callus formation affecting all long bones. There is swelling of the overlying soft tissue of the lower limbs
Click here to view |
The serum calcium and phosphorus and alkaline phosphatase were within normal limits. Radiological diagnosis of OI was performed.
The child was admitted into the pediatric ward where he was managed conservatively in conjunction with orthopedic surgeons. The parents were counseled and taught how to handle the child to minimize fractures.
He was discharged on oral calcium and Vitamin D supplements to the orthopedic and pediatric outpatient clinic for follow-up. He was, however, lost to follow-up.
| Discussion | | |
OI, sometimes known as brittle bone disease, or “Lobstein syndrome,” is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to produce it, usually because of either qualitative or quantitative defect of Type I collagen.[7] This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure.[8]
It is classically inherited as an autosomal dominant trait; however, a recessive pattern of inheritance may result from mutations in other genes.[4] Mutations in the genes that code for Type I collagen[1] and mutations in one of the two genes COL1A1 and COL1A2 are found in 80%–90% of people with OI.
Sporadic germ cell mosaicism due to new mutations in the COL1A1 or COL1A2 gene may explain cases occurring in families with healthy parents who have more than one child with the disorder.
The child presented in this report is possibly from new mutation because of the absence of family history. However, there is aforementioned medical history of stillbirth from his parents. DNA sequencing or collagen cultures were, however, not done for either the boy or the parents due to unavailability of these tests in our facility.
The previous history of a stillbirth in the mother is also a possible pointer to the diagnosis as OI can also be a cause of stillbirth.
The original four-type classification system began with Sillence in 1979.[9] An older system deemed less severe types “OI tarda,” while more severe forms were deemed “OI congenita.” As this did not differentiate well, and all forms are congenital, this has since fallen out of favor. This has been expanded over the years to include OI types I–VIII.[4]
IA and IB are distinguished by the absence/presence of dentinogenesis imperfecta (characterized by opalescent teeth; absent in IA, and present in IB). Similar to Type I, Type IV can be further subclassified into Types IVA and IVB characterized by the absence (IVA) or presence (IVB) of dentinogenesis imperfecta.
Types V, VI, and VII have no Type I collagen mutation but have abnormal bone on microscopy and a similar phenotype in terms of inheritance, and Types VI–VIII have the autosomal recessive mode of inheritance, whereas Types I–V are autosomal dominant.[10] The presence of both healing and new bone fractures, growth retardation, limb deformities, and blue sclera in this index patient suggests OI Type III [Figure 1] and [Figure 2]. This is consistent with the findings of Fajolu et al.,[11] who have reported a significant proportion of Nigerians with OI to be having Type III disease. The report and the clinical presentation in this present article suggest that the severe forms of OI (Types II and III) may be more common in Blacks.
Important investigations include skeletal survey, collagen culture analysis which confirms the diagnosis, DNA sequencing, and dual-energy X-ray absorptiometry scan; however, only the skeletal survey was done in the current case. The remainders of these tests are very expensive and not available in our hospital.
Prenatal ultrasonography can also detect limb length abnormalities at 15–18 weeks; however, prenatal ultrasound scan report was not available in this case.
There is no cure yet available for OI, but a multidisciplinary approach is required to manage the disorder. Early physical rehabilitation is encouraged; surgical procedures such as inter-medullary rod placement in bowed extremities, correction of vertebral abnormalities, and relief of basilar compression may also be required.
Medical therapy involves the use of intravenous (IV) bisphosphonate which reduces the incidence of fractures and increases bone density while reducing pain; however, the IV route may limit its use.[12] Appropriate intake of calcium and Vitamin D supplements is also essential. This patient was, however, placed only on Vitamin D and calcium supplements as bisphosphonate was not available.
Other supportive measures include optimal caloric intake and physical therapy to improve joint mobility and achieve functional ability and psychological support for patients and their families. The complications include basilar impression, brainstem compression, recurrent pneumonia, and respiratory insufficiency. These were, however, not present in this patient at the time of presentation.
Prognosis depends on the type; Types I and IV are compatible with full life span, Type III is associated with reduced life span, and patients with Type II usually die within months to a year of life. The boy in this case report who fits into clinical Type III disease is expected to follow the aforementioned prognostic course, but this could not be ascertained as he was lost to follow-up.
| Conclusion | | |
A rare case of OI, with associated growth retardation, has been presented. Detail clinical presentation and imaging modality such as radiography can be of great help in early diagnosis of the disease for counseling of the parents and provide the best treatment options. Further studies are required to know the detail of this complex disease entity that will enrich OI literature in Black African children.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Aslan MT, Eren E, Sağlam H, Tarım Ö. Retrospective evaluation of patients diagnosed with osteogenesis imperfecta. J Curr Pediatr 2017:4;15.  |
| 2. | Barros CA, Rezende Gde C, Araujo J&#XS250;nior E, Tonni G, Pereira AK. Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: A three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med 2016;29:1725-30. |
| 3. | Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Classification of Osteogenesis Imperfecta revisited. Eur J Med Genet 2010;53:1-5. |
| 4. | Gjaltema RA, van der Stoel MM, Boersema M, Bank RA. Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2. Proc Natl Acad Sci U S A 2016;113:7142-7. |
| 5. | Mwangi GC, Macharia JT. Pattern of distribution of patients presenting with osteogenesis imperfecta at AIC cure Children's International Hospital, Kijabe. East Afr Orthop J 2016;10:21-6. |
| 6. | Akinola R, Disu E, Adewole O. Osteogenesis imperfecta: A report of two cases. Int J Pediatr Neurol 2008;8:2. |
| 7. | |
| 8. | Chang SW, Shefelbine SJ, Buehler MJ. Structural and mechanical differences between collagen homo-and heterotrimers: Relevance for the molecular origin of brittle bone disease. Biophys J 2012;102:640-8. |
| 9. | Marini JC, Cabral WA. Osteogenesis imperfecta. In: Genetics of Bone Biology and Skeletal Disease. Part 1. Routledge, American: Academic Press; 2018. p. 397-420. |
| 10. | Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010;86:551-9. |
| 11. | Fajolu IB, Ezeaka VC, Elumelu OJ, Onabajo OA, Ananti CH, Iroha EO, et al. Osteogenesis imperfecta in a set of Nigerian twins-A case report. Int J Pediatr Neonatal 2012;14. |
| 12. | |
[Figure 1], [Figure 2]
|
Search Pubmed for