RESUMO
Sanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D). It can cause delayed speech, behavior problems, and features of autism spectrum disorder. Sanfilippo syndrome is of a higher prevalence within consanguineous families that carry its gene alteration. If both parents have a nonfunctional copy of a gene linked to this condition, their children will have a 25% (1 in 4) chance of developing the disease. In Saudi Arabia, the incidence rate is estimated at 2 per 100,000 live births. Recent research focused on promising treatment approaches, such as gene therapy, modified enzyme replacement therapy, and stem cells. These approaches work by exogenous administration of the proper version of the mutant enzyme (enzyme replacement therapy), cleaning the defective enzyme in individuals with glycolipid storage disorders (substrate reduction therapy), or using a pharmacological chaperone to target improperly folded proteins. However, there is currently no approved curative medication for Sanfilippo syndrome that can effectively halt or reverse the disorder.
RESUMO
BACKGROUND: Therapeutic plasma exchange (TPE) is a procedure involving the filtration of a patient's plasma to eliminate pathogenic components or address deficiencies. This technique finds varied indications in the pediatric age group, particularly in neuroinflammatory diseases. OBJECTIVES: The objective of this study is to delve into our local experience with TPE, focusing on indications, outcomes, and complications among children with neurological diseases at King Abdulaziz University Hospital (KAUH) in Jeddah, Saudi Arabia. RESULTS: Conducted at the pediatric department of KAUH in Jeddah from November 2008 to July 2023, this retrospective cohort study examined 15 patients, revealing a notable male predominance with 12 male patients (80%) and three female patients (20%). About two-thirds of patients exhibited an average illness severity, with a Glasgow Coma Scale (GCS) score of 10.7 and an Expanded Disability Status Scale (EDSS) score of 4.8. The median length of hospital stay was 23 days, and in the pediatric intensive care unit (PICU), it was 8.5 days. Presenting symptoms included limb weakness (n = 6), loss of consciousness (n = 3), dysphagia (n = 3), photophobia (n = 1), and ascending paralysis (n = 1). The TPE was performed for Guillain-Barré syndrome (GBS) (n = 7), myasthenia gravis (MG) (n = 3), transverse myelitis (TM) (n = 2), neuromyelitis optica (NMO) (n = 2), and systemic lupus erythematosus (SLE) cerebritis (n = 1). Twelve patients were admitted to the PICU, and mechanical ventilation was required for 10 patients. In magnetic resonance imaging (MRI) findings, abnormalities were observed in 10 cases, while the remaining five either had normal results or did not undergo MRI. Most patients required five sessions of TPE (n = 7). The median age at the initiation of TPE was 13 years. Twelve patients improved with TPE treatment, while three did not. Complications observed during and following TPE included fever (n = 5), electrolyte disturbance (n = 5), hypotension (n = 3), hypocalcemia (n = 2), bradycardia (n = 2), vomiting (n = 1), tachycardia (n = 1), eye rash (n = 1), infection (n = 1), and bleeding originating from the TPE procedure site (n = 1). CONCLUSION: In conclusion, our study underscores the significance of TPE as a therapeutic modality, emphasizing the imperative for ongoing research to fully exploit its potential across diverse medical contexts for enhancing patient care. Our findings, consistent with prior research, reveal plasma exchange's (PLEX's) wide-ranging applications and complications in neurological disorders.
