case_images: PMC9130017_01
case_images: Skeletal survey revealing truncation of the caudal sacrum.
case_images: CRIG2022-7510079.001.jpg
case_images: PMC9130017_01_CRIG2022-7510079.001.jpg
case_images: fig1
case_images: The patient has experienced multiple medical conditions throughout childhood, to include undescended testes and chordee requiring surgery, malrotation requiring a Ladd's procedure, severe developmental delays, partial sacral agenesis (Figure 1) with a congenital sacral mass requiring resection, hypertrophic scars, cholesteatoma, cataracts, astigmatism, amblyopia, bilateral sensorineural hearing loss requiring hearing aids, obstructive sleep apnea, eustachian tube dysfunction requiring PE tube placement, mineralocorticoid deficiency, growth hormone deficiency, hypotonia, neurogenic bladder, intractable epilepsy requiring ketogenic diet, spastic quadriplegia requiring Botox, syringomyelia, tethered cord, thoracic and lumbar neuromuscular scoliosis (Figure 2), chronic lung disease, constipation, gastroesophageal reflux disease with eosinophilic gastroenteritis, swallowing dysfunction, G-tube dependence with minimal oral feeds, osteopenia and recurrent fractures requiring treatment with bisphosphonates and growth hormone, congenital mitral regurgitation, mitral valve prolapse, and bicuspid aortic valve.
case_images: Scoliosis survey revealing 23 degrees of dextrocurvature of the thoracic spine, 4 degrees of levocurvature of the upper lumbar spine, and diffuse osseous demineralization.
case_images: CRIG2022-7510079.002.jpg
case_images: PMC9130017_01_CRIG2022-7510079.002.jpg
case_images: fig2
case_images: The patient has experienced multiple medical conditions throughout childhood, to include undescended testes and chordee requiring surgery, malrotation requiring a Ladd's procedure, severe developmental delays, partial sacral agenesis (Figure 1) with a congenital sacral mass requiring resection, hypertrophic scars, cholesteatoma, cataracts, astigmatism, amblyopia, bilateral sensorineural hearing loss requiring hearing aids, obstructive sleep apnea, eustachian tube dysfunction requiring PE tube placement, mineralocorticoid deficiency, growth hormone deficiency, hypotonia, neurogenic bladder, intractable epilepsy requiring ketogenic diet, spastic quadriplegia requiring Botox, syringomyelia, tethered cord, thoracic and lumbar neuromuscular scoliosis (Figure 2), chronic lung disease, constipation, gastroesophageal reflux disease with eosinophilic gastroenteritis, swallowing dysfunction, G-tube dependence with minimal oral feeds, osteopenia and recurrent fractures requiring treatment with bisphosphonates and growth hormone, congenital mitral regurgitation, mitral valve prolapse, and bicuspid aortic valve.
case_images: Brain MRI revealing dysgenesis of the corpus callosum, partially empty sella, and third ventricular enlargement.
case_images: CRIG2022-7510079.003.jpg
case_images: PMC9130017_01_CRIG2022-7510079.003.jpg
case_images: fig3
case_images: He also has multiple abnormalities on brain MRI to include ventriculomegaly, dysgenesis of the corpus callosum, partially empty sella, hypoplasia of the cerebellar vermis, arachnoid cyst, and underdeveloped hippocampi (Figure 3).