STUDY DESIGN: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity. OBJECTIVE: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the consultations that we consider that are obligatory, and our decision-making process. We would also like to demonstrate the follow-up plan and the further key points about either the conservative or the surgical solution of the problem. SUMMARY OF BACKGROUND DATA: The occurrences of 2 malformations (Pierre Robin sequence and occipitoatlantoaxial instability) together are very rare. We have found only 1 publication in the related literature about this topic. We consider that this rare appearance is due to the difficulty in diagnosing this problem. There is no clinical evidence that musculoskeletal examinations are indicated in a patient with Pierre Robin sequence, and it is difficult to check for all the possible deformities. METHOD: As congenital scoliosis appeared only at 6 years of age in the case of this child with Pierre Robin syndrome, we promptly began to investigate for other musculoskeletal defects. We would like to demonstrate the investigation process and emphasize the necessity of conventional and functional radiographs, computed tomography, and magnetic resonance images. RESULTS: We have not found similar cases to refer to, so we made our decision about conservative treatment of the craniocervical instability knowing that we will have to follow up the progression of both the congenital thoracic scoliotic deformity and the occipitoatlantoaxial instability later. CONCLUSION: To recognize a rare case is a big challenge indeed due to the lack of the investigational protocol, the key points of the decision process, the prognostic classification system, and the progression of the disease. We recommend that one should individualize and follow up the patient frequently.
STUDY DESIGN: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity. OBJECTIVE: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the consultations that we consider that are obligatory, and our decision-making process. We would also like to demonstrate the follow-up plan and the further key points about either the conservative or the surgical solution of the problem. SUMMARY OF BACKGROUND DATA: The occurrences of 2 malformations (Pierre Robin sequence and occipitoatlantoaxial instability) together are very rare. We have found only 1 publication in the related literature about this topic. We consider that this rare appearance is due to the difficulty in diagnosing this problem. There is no clinical evidence that musculoskeletal examinations are indicated in a patient with Pierre Robin sequence, and it is difficult to check for all the possible deformities. METHOD: As congenital scoliosis appeared only at 6 years of age in the case of this child with Pierre Robin syndrome, we promptly began to investigate for other musculoskeletal defects. We would like to demonstrate the investigation process and emphasize the necessity of conventional and functional radiographs, computed tomography, and magnetic resonance images. RESULTS: We have not found similar cases to refer to, so we made our decision about conservative treatment of the craniocervical instability knowing that we will have to follow up the progression of both the congenital thoracic scoliotic deformity and the occipitoatlantoaxial instability later. CONCLUSION: To recognize a rare case is a big challenge indeed due to the lack of the investigational protocol, the key points of the decision process, the prognostic classification system, and the progression of the disease. We recommend that one should individualize and follow up the patient frequently.
Authors: Anudeep Yekula; Connor Grant; Mihir Gupta; David R Santiago-Dieppa; Pate J Duddleston; David Gonda; Michael Levy Journal: Childs Nerv Syst Date: 2020-05-12 Impact factor: 1.475