Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome.

Mucopolysaccharidosis type IVA, also known as Morquio syndrome, is an autosomal recessive lysosomal storage disease. Skeletal dysplasia with short stature, dysplastic-hypoplastic dens (os odontoideum), ligamentous hyperlaxity, and C1-C2 instability are characteristic features. Most patients with Morquio syndrome present with compressive myelopathy at a young age as a result of a combination of C1-C2 instability and extradural soft tissue thickening; treatment generally consists of anterior decompression with occipito-cervical fusion and external orthosis. In this report, we describe the successful treatment of a young child using posterior C1-C2 fusion alone with a free-hand technique. A 3-year-old boy presented at our hospital with a 5-month history of progressive quadriparesis. A whole-body skeletal survey showed skeletal dysplasia with hypoplasia, thoracolumbar kyphosis, and atlantoaxial subluxation. Preoperative cervical imaging showed compressive myelopathy at C1-C2 and atlantoaxial subluxation. C1-C2 fixation and decompression were performed successfully. After the operation, the patient had improved strength and was able to walk independently 8 months postoperatively. Establishment of stability via C1-C2 fusion is challenging in patients with genetic disorders characterized by skeletal dysplasia because of these young patients' small bone size and deficient bone quality. In this unique case, the treatment consisted solely of C1-C2 fusion with a free-hand technique. This case report presents a new approach in the treatment of atlantoaxial instability in Morquio syndrome.

Mass Effect After Flow Diversion for Unruptured Large and Giant Cavernous or Paraclinoid Internal Carotid Artery Aneurysm.

OBJECTIVE: The mass effect associated with large or giant intracranial aneurysms is difficult for traditional endovascular treatment. This study investigated whether flow diverters can relieve the aneurysmal mass effect caused by aneurysmal compression symptoms. METHODS: Fifty-five patients with unruptured large and giant intracranial aneurysms treated by a flow diverter at our institution from January 2014 to February 2022 were retrospectively evaluated. RESULTS: In this study, 53 patients were included. Initially, 27 patients (51.9%), including 10 with compressive optic neuropathy, 12 with third nerve palsy, 2 with facial hyperesthesia, and 11 with sixth nerve palsy, were symptomatic. The symptom duration was shorter in the improved group (n = 2.2 ± 4.0 vs. n = 3.1 ± 3.9, P = 0.49). Thrombus formation following the flow diversion procedure was typically observed on magnetic resonance imaging (MRI) performed immediately and was not significantly associated with symptomatic improvement (OR = 0.395; 95% CI (0.058-2.698), P = 0.343). However, symptomatic improvement was seen in most patients when the aneurysm size decreased on MRI. A reduction in the aneurysm size on the MRI at the 3-month follow-up was correlated with symptomatic improvement in the multivariate analysis (OR = 0.08, 95% CI (0.013-0.485), P < 0.05). CONCLUSIONS: A flow diverter might help alleviate compression symptoms caused by large or giant intracranial aneurysms. Shrinkage of the aneurysm within 3 months postoperatively and a shorter duration of symptoms contribute to the favorable outcomes of mass effect. Ultimately, prompt treatment is crucial for improving symptomatic intracranial artery aneurysms.