Sanfilippo Syndrome: Brain Clinical Picture
Year: 2025
Type: article
Study design: Case Report
Abstract: This case involves a 20-year-old female patient who experienced three episodes of tonic–clonic seizures after becoming agitated upon waking up at home. The patient has exhibited behavioral abnormalities and speech impairment since childhood and was diagnosed with mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) at the age of 14 years. The diagnosis was confirmed through chromatography of glycosaminoglycans, revealing the presence of heparan sulfate with greater mobility in urine and a concentration of 25 mg/mmol creatinine in urine. The patient has been under the care of a multidisciplinary team. Computed tomography revealed typical findings of Sanfilippo syndrome, including diffuse cortical thickening of the bone structures evaluated, volumetric reduction of brain parenchyma, accentuation of furrows between cortical gyri and Sylvian fissures, and compensatory dilation of the ventricular system [Figure 1].Figure 1: (a) A computed tomography (CT) scan of the bone window demonstrates diffuse bone thickening. (b) CT in the soft-tissue window shows the widening of the sulci between the cortical gyri and Sylvian fissures and compensatory dilation of the ventricular system. (c) CT in the soft-tissue window reveals volumetric reduction of the brain parenchyma.Sanfilippo syndrome is an autosomal recessive disease characterized by an enzymatic disorder affecting the degradation of heparan sulfate, an intra- and extracellular proteoglycan found in various cells.[1,2] In the United States, its incidence is approximately 1 in 70,000 live births.[3] The syndrome is categorized into four subtypes based on the specific enzymatic deficiency, with MPS IIIA and IIB being the most prevalent.[1] This condition is a progressive neurodegenerative disorder, and its symptoms arise from the accumulation of heparan sulfate in the central nervous system, leading to cognitive decline, motor dysfunction, and behavioral abnormalities.[4,5] The most significant neuroradiological features include abnormal white matter signal intensity, dilation of periventricular spaces, widening of cortical sulci, cerebral atrophy, enlargement of extraventricular spaces, and spinal cord compression,[6] as evidenced in this case. Concerning the skeletal system, key radiological findings consist of dysostosis multiplex, which encompasses various bone malformations found in the skull, hands, legs, arms, and spine.[7] Abnormal storage of glycosaminoglycans leads to hepatomegaly and splenomegaly while also causing damage to cartilage and synovial recesses in joints.[7] As of now, there is no approved treatment for MPS III. However, various treatments are under investigation, including enzyme replacement therapies, substrate reduction therapies, and gene and cell therapies. According to Kong et al., it is anticipated that an approved treatment will become available in the near future.[8] Ethics statement This study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki and its amendments. The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and that due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Data availability statement Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Source: Acta Neurologica Taiwanica
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7117573161