ABSTRACT
Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.
Subject(s)
Abnormalities, Multiple , Spinal Cord Injuries , Humans , Siblings , Abnormalities, Multiple/surgery , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/surgery , Cervical Vertebrae/abnormalities , Spinal Cord Injuries/complicationsABSTRACT
BACKGROUND: Within the Caribbean, Curaçao provides a neurosurgical hub to other Dutch Caribbean islands. At times, the inefficiency of neurosurgical referrals leads to unsatisfactory patient outcomes in true emergency cases. OBSERVATIONS: This article reports an illustrative case of a patient in need of emergency neurosurgical care, who was referred to a tertiary health institution in Curaçao. This case highlights the challenges of timely neurosurgical referrals within the Dutch Caribbean. LESSONS: Highlighting this case may provide a foundation for further discussions that may improve neurosurgical care and access. Limiting long-distance surgical referrals in the acute care setting will aid in saving lives.
ABSTRACT
BACKGROUND: The neurosurgical workforce in the Caribbean and surrounding countries is largely unknown due to the diversity in cultural, linguistic, political, financial disparities, and colonial history between the countries. About 45 neurosurgeons serve 16 million people in the Caribbean Community and Common Market, a trade alliance including most Caribbean nations. We aimed to understand the current scope of neurosurgical workforce in this region while highlighting any system challenges and potential solutions for upscaling the workforce. METHODS: We surveyed neurosurgeons within Caribbean countries and surrounding countries online using qualitative and quantitative methods via Qualtrics. RESULTS: Of the 38 countries within the Caribbean and surrounding countries, 26 (68%) were surveyed and of which 18 (69%) replied. In total, 172 regional neurosurgeons were identified, of which 61 (35%) replied-with a majority of general neurosurgeons (56%). Remarkably, the majority of countries failed to meet the threshold workforce density for safe health care-either expressed by full-time equivalent neurosurgeons or neurosurgical centers (see table). Most neurosurgical practices confirmed receiving or sending medical referrals. If so, most referrals took longer than 8 hours without significant difference regarding the destination. Lastly, challenges confronting neurosurgical advancement were found in the following: technology and equipment (40%), trained personnel (31%), hospital or medical center infrastructure (14%), neurosurgical education, and training (44%). CONCLUSIONS: To our knowledge, this is the first qualitative and quantitative study exploring the current status of the neurosurgical workforce within the Caribbean and surrounding countries. Identifying resources and challenges can contribute to improving regionalized neurosurgical care.
