Distinctive Cranial Abnormalities in Children with Early Infancy Insulin Dependent Diabetes in Connection with Wolcott-Rallison Syndrome
Journal Title: Journal of Orthopaedic Science and Research - Year 2023, Vol 4, Issue 1
Abstract
Background: Abnormal craniofacial contour and deformities of the appendicular skeleton of the lower limbs can occur in connection with a long list of skeletal dysplasia. The natural history of chronic/unusual disorders can be a precise key factor towards a successful diagnostic process. Material and Methods: Three unrelated children aged 18-months, 2 and 7 year (two boys and one girl) presented with generalised skeletal mal-development compatible with multiple epiphyseal dysplasia. However, in the early months of life these children have been diagnosed with early infancy insulin dependent diabetes. Strikingly, all manifested Wormian bones over the lambdoid sutures. In addition to Progressive malalignment of the lower limbs and thoracic kyphosis associated with significant growth deficiency were the major skeletal abnormalities. Endochondral ossification was diffusely affected associated with multiple epiphyseal dysplasia and appearance of irregular and fragmented epiphyses. Results: Based on early permanent neonatal or early-infancy insulin-dependent diabetes, associated with the clinical and radiological phenotypic characterizations of multiple epiphyseal dysplasia and growth retardation as the major abnormalities in these children. Wolcott-Rallison syndrome was the highly likely diagnosis. The most interesting findings in this study; The Wormian bones, not only involved the lambdoid sutures, but also extended to involve the occipitomastoid suture. We confirmed our diagnosis via sequence analysis which revealed a homozygous nonsense gene mutation (EIF2AK3) resulting in a premature stop codon (c.2707 C>T, p.R903X). Parents in two families were identified as heterozygous carriers of this mutation. Conclusion: The significance of this study is to point out the importance of analysing the skull bones in children with skeletal dysplasia. Interestingly, for the first time we detected the downward bulging of the occiput because of the abundancy of the Wormian bones (sites of maximal skull bone fragility) along the lambdoid and the occipito-mastoid sutures is by itself a highly alarming sign of progressive weakness of the weight-bearing zone (which is represented by the lambdoid and the occipitomastoid sutures). The exerting load of the cerebrum on these vulnerable and soft sutures can lead to brain swelling (a serious condition). Despite that lower limb defects in children are the most frequent deformities encountered in the departments of paediatric orthopaedics, because of the real or apparent detrimental effect that they have on gait and upright activity, and it draw immediate and alarming attention to parents. But, nevertheless, it is the responsibility of physicians to pay prompt attention for the necessity to scrutinize the skulls and the craniocervical junction in patients with long term bone disorders.
Authors and Affiliations
Ali Al Kaissi, Sergey Ryabykh, Alexander Gubin, Polina Ochirova, Hamza Al Kaissi, Susanne Gerit Kircher, Rudolf Ganger, Franz Grill
Keywords
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- EP ID EP713833
- DOI https://doi.org/10.46889/JOSR.2023.4104
- Views 35
- Downloads 0
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