Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:133-40. Review. Citation on PubMed Malm G, Månsson JE. [medlineplus.gov]

Corneal opacities, such as corneal clouding, are not usually present in individuals with MPS III. [ncbi.nlm.nih.gov]

• Hepatomegaly

  People with MPS III often have a slightly enlarged liver (mild hepatomegaly) or spleen (mild splenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). [medlineplus.gov]

  GAG accumulation that results in hepatomegaly and splenomegaly does not lead to dysfunction despite increases in size. Neurologic. [ncbi.nlm.nih.gov]

• Hepatosplenomegaly

  Medical condition: Mucopolysaccharidosis I H/S, lysosomal storage disease with clinical manifestations such as progressive joint stiffness, growth retardation, corneal clouding, hepatosplenomegaly, cardiac and respir... [clinicaltrialsregister.eu]

  Recommended Evaluations Following Initial Diagnosis in Individuals with Mucopolysaccharidosis Type III System/Concern Evaluation Comment Constitutional Abdominal ultrasound Evaluate for hepatosplenomegaly. [ncbi.nlm.nih.gov]

• Joint Stiffness

  Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. [medlineplus.gov]

  Medical condition: Mucopolysaccharidosis I H/S, lysosomal storage disease with clinical manifestations such as progressive joint stiffness, growth retardation, corneal clouding, hepatosplenomegaly, cardiac and respir... [clinicaltrialsregister.eu]

  Joint stiffness or contractures and features of dysostosis multiplex are common, although much less severe than in other MPS disorders. [ncbi.nlm.nih.gov]

• Hirsutism

  Other symptoms can include coarse hair, excess hair growth (hirsutism), slightly coarse facial features, sleeping problems, mildly enlarged liver and/or spleen, speech delay, respiratory and ear infections, diarrhea, hernias, seizures and a wobbly and [rarediseases.org]

  Coarse and thick hair are frequently observed, as are synophrys and hirsutism. Skin is often tough and thick, sometimes causing difficulty with venipuncture. Hepatosplenomegaly. [ncbi.nlm.nih.gov]

• Hyperactivity

  As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood. [sanfilippo.org.au]

  Almost all affected children exhibit hyperactivity often unresponsive to medication. [ncbi.nlm.nih.gov]

  Behavioral problems often worsen with affected children becoming restless, hyperactive, destructive, anxious, impulsive, fearless, or aggressive. [medlineplus.gov]

  Behavioral problems such as hyperactivity and irritability may become obvious earlier. Severe behavioral disturbance is a very common feature of Sanfilippo syndrome, and one of the more difficult aspects of the disorder to manage. [rarediseases.org]

• Seizure

  As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood. [sanfilippo.org.au]

  Patients with decreased mobility or a history of anti-seizure medication use are especially at risk for osteoporosis and fractures [Nur et al 2017]. [ncbi.nlm.nih.gov]

  In later stages of the disorder, people with MPS III may develop seizures, loss of mobility, and movement disorders. The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. [medlineplus.gov]

  Other symptoms can include coarse hair, excess hair growth (hirsutism), slightly coarse facial features, sleeping problems, mildly enlarged liver and/or spleen, speech delay, respiratory and ear infections, diarrhea, hernias, seizures and a wobbly and [rarediseases.org]

• Behavior Problem

  Behavioral problems often worsen with affected children becoming restless, hyperactive, destructive, anxious, impulsive, fearless, or aggressive. [medlineplus.gov]

  Behavioral problems such as hyperactivity and irritability may become obvious earlier. Severe behavioral disturbance is a very common feature of Sanfilippo syndrome, and one of the more difficult aspects of the disorder to manage. [rarediseases.org]

  problems, and sleep disturbances. [ncbi.nlm.nih.gov]

• Loss of Speech

  As the brain gets progressively damaged, children experience severe hyperactivity, disordered sleep, loss of speech, cognitive decline, cardiac issues, seizures, loss of mobility, and finally death, usually before adulthood. [sanfilippo.org.au]

Download a factsheet on Sanfilippo Treatments There is currently no treatment or cure available to children diagnosed with this devastating disease. [sanfilippo.org.au]

Ongoing advances in gene therapy may influence treatment of MPS III. [ncbi.nlm.nih.gov]

Standard Therapies Treatment Treatment of Sanfilippo syndrome is symptomatic and supportive. It is important for children with MPS III to be managed by a multidisciplinary team of specialists to give these children the best quality of life. [rarediseases.org]

Medical condition: Treatment of Hunter syndrome and cognitive impairment Disease: Version SOC Term Classification Code Term Level 14.1 10010331 - Congenital, familial and genetic disorders 10056889 Mucopolysaccharidosis II PT Population Age: Children, [clinicaltrialsregister.eu]

Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006;Chapter 2. Clarke JTR. [rarediseases.org]

Epidemiology of Sanfilippo syndrome: results of a systematic literature review. Orphanet J Rare Dis. 2018;13:53. [ncbi.nlm.nih.gov]

Due to the inability of intravenous ERT to permeate the blood-brain barrier sufficiently to prevent neurologic disease progression, intravenous ERT has not been investigated in MPS III as intensively as it has for other lysosomal storage diseases. [ncbi.nlm.nih.gov]