Abstract
Monosomy 1p36 deletion is a rare syndrome that consists of developmental delay, intellectual disability, seizures, hearing and vision defects, brain anomalies, orofacial clefting, congenital heart defects, cardiomyopathy, renal anomalies, and scoliosis. We report the case of an eight-year-old boy who presented to the orthopedic clinic with spinal deformity with a background of 1p36 deletion syndrome. The treatment modalities at this age include growing rods, vertical expandable prosthetic titanium rib (VEPTR), or posterior spinal fusion. Keeping in view the challenges in this case due to multi-organ involvement and severe intellectual disability, we decided to manage this patient with a VEPTR device to prevent the progression of scoliosis and allow spinal growth.Vertical expandable prosthetic titanium rib (VEPTR) instrumentation for progressive scoliosis in p36 deletion syndrome is an effective mode of treatment and leads to favorable outcomes.
Highlights
Monosomy 1p36 deletion is a chromosomal disorder characterized by severe intellectual disability and brain structural abnormalities; it is one of the most common terminals deletion syndromes in humans, with an estimated prevalence of one per 5,000 births
This paper reports the successful management of progressive scoliosis in a 1p36 deletion syndrome patient using a vertical expandable prosthetic titanium rib (VEPTR) device
As 1p36 deletion syndrome is relatively common and scoliosis has been reported in these patients, and with an early presentation, we emphasize the importance of proper early investigations and follow-up
Summary
Monosomy 1p36 deletion is a chromosomal disorder characterized by severe intellectual disability and brain structural abnormalities; it is one of the most common terminals deletion syndromes in humans, with an estimated prevalence of one per 5,000 births. This paper reports the successful management of progressive scoliosis in a 1p36 deletion syndrome patient using a vertical expandable prosthetic titanium rib (VEPTR) device. This is the case of an eight-year-old male patient who was first referred to our clinic four years ago with a complaint of a worsening spinal deformity. Single nucleotide polymorphism array for this patient came back positive for 1p36 deletion; in addition, comparative genomic hybridization showed 1.1 duplications in the short arm of chromosome 17 This first thoracolumbar x-ray of this patient was done when he was one year old as part of a standard dysmorphic skeletal survey that showed mild dextrocurvature of the mid-thoracic spine with a curve angle measurement of 26 degrees. He had a preoperative kyphotic angle of 63 degrees, which improved to 43 degrees after the index procedure and further decreased to 39 degrees after the last VEPTR lengthening procedure (Figure 2)
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