Stiff-person syndrome (SPS) is a rare neurological condition that frequently affects adults, with the neurologist diagnosing only one or two cases during his or her career. Reports of paediatric SPS are exceedingly rare, with less than 20 cases described in the literature.The patient presented was initially diagnosed with a functional movement disorder then a genetic dystonia, with a poor response to treatment trials and negative genetic testing. Consideration of Wilson's disease was refuted with non-supportive investigations and assessments.We aim to present the long road to diagnosing our first paediatric patient with SPS, who presented in middle childhood.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10875472 | PMC |
http://dx.doi.org/10.1136/bcr-2023-256448 | DOI Listing |
Front Immunol
December 2024
Department of Neurology, Specialized Rehabilitation Hospital/Capital Health, Abu Dhabi, United Arab Emirates.
Med Acupunct
October 2024
Department of Family Medicine, West Virginia University, Morgantown, West Virginia, USA.
Objective: Stiff person syndrome (SPS) is a rare neurological disorder. Treatments are limited, and non-pharmacologic therapies are recommended based on symptomatology. A G2P2002 post-menopausal 60-year-old female with hypertension, obesity, and type II diabetes, and SPS secondary to a paraneoplastic process cause by endometrioid ovarian adenocarcinoma who presented to acupuncture clinic seeking treatment for SPS and its sequela.
View Article and Find Full Text PDFPract Neurol
December 2024
Neurology Department, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK.
We describe a woman with stiff-person syndrome (SPS), whose muscle spasms resulted in sequential bilateral femoral neck fractures. Orthopaedic fixation of the first fracture was complicated by increased muscle spasm, fracture nonunion and ultimately metalwork fracture. SPS was diagnosed following the fracture of the contralateral femoral neck, neurology assessment and detection of high-titre antibodies to glutamic acid decarboxylase.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Internal Medicine, Hirslanden Klinik Sankt Anna, Luzern, Switzerland
A patient with reactivated varicella zoster virus (VZV) manifesting in the left-sided dermatome L3 and S2-S4 developed tonic spasms which morphed into myoclonic jerks, paresis, rigidity and hypoesthesia of the left leg. Later, stimuli-sensitive myoclonus progressed to affect the upper body and was accompanied by fever surges with high-frequency myoclonus, hypertensive derailment, dysphagia and other features of the brainstem with autonomic dysfunction. Cerebrospinal fluid tested positive for VZV, MRI showed no signs of myelitis and EEG was negative for epilepsy.
View Article and Find Full Text PDFCureus
November 2024
Family Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.
Stiff person spectrum disorder is a disease that involves a host of conditions that are associated with glutamic acid decarboxylase 65-kilodalton isoform autoantibodies. These conditions may include diabetes mellitus type 1, pernicious anemia, autoimmune leukoencephalopathy, cerebellar ataxia, and stiff-person syndrome. Clinical recognition and diagnosis of stiff person spectrum disorder are important early, as immunologic treatment options showing reliable efficacy in slowing disease progression are available.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!