- E-ISSN2671-6771
E-ISSN : 2671-6771
Vol.1 No.2
Abstract
Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in β-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.
Abstract
Introduction: CATCH 22 syndrome is rare genetic disease that has various manifestations. Cervical vertebral anomaly, such as Klippel-Feil anomaly, is frequently observed in the patients with CATCH22 syndrome. We present the case of an 11-year-old female patient with CATCH22 syndrome and Klippel-Feil anomaly who had been treated torticollis using the customized soft neck collar. Case report: During the patient’s first visit to our clinic, she presented with low ear set, skull deformity, intellectual disability, and tilting of the head to the left by approximately 25 degrees. Imaging studies revealed multisegmental fusion and C3 hemivertebrae of the cervical spine and left thoracic scoliosis at T4 with 50 degrees of Cobb’s angle. We instructed passive stretching and applied the customized soft neck collar we invented. The ipsilateral aspect of the neck collar is designed to provide vertical support between the clavicle and mandibular angle and is adjustable in height. The Velcro was attached to the neck collar at the point of contact with the ipsilesional mandibular angle, which provides negative sensory feedback, inducing her to tilt neck to the contralesional side. We applied the neck collar for 2 hours a day. After 1 year of treatment, her neck inclination angle improved from 25 to 10 degrees. Conclusion: Providing negative sensory feedback using the customized soft neck collar can be one of the treatment options of postural management in patients with torticollis in cases of CATCH 22 syndrome combined with Klippel-Feil anomaly.