Presentation of Mucopolysaccharidosis As Very Early Onset Schizophrenia Like Illness in Psychiatry Settings. [neurologyindia.com]

The present charts contribute to the understanding of the natural history of MPS III. [ojrd.biomedcentral.com]

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

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]

Somatic features, such as mild organomegaly, little to no corneal clouding, and orthopedic abnormalities, may be present. Neurologic degeneration usually begins in children aged 6 years or older (sometimes even younger). [emedicine.medscape.com]

• Dysostosis

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

  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]

  Without the proper enzymatic degradation of the mucopolysaccharides, clinical symptoms, such as auditory and visual defects, cardiovascular pathologies, hepatosplenomegaly, and dysostosis multiplex, occur due to their accumulation in organ systems. [emedicine.medscape.com]

  In addition, coarse facial features, hepatosplenomegaly and skeletal dysostosis multiplex are common [1, 14, 15]. Adult MPS patients are generally of short stature [16]. [ojrd.biomedcentral.com]

• Developmental Delay

  Early signs and symptoms of MPS III can include frequent ear and throat infections or bowel problems, though most common are mild developmental delay or delayed speech. [medlineplus.gov]

  […] with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country. [ncbi.nlm.nih.gov]

  Signs & Symptoms Children with MPS III usually appear healthy at birth, but developmental delay is usually evident by age 2-5 years. Mental and motor development peak by 3-6 years of age, after which intellectual decline usually occurs. [rarediseases.org]

• Turkish

  In 11.5% the origin was unknown, 4.9% Turkish, 2.2% Sinti and Romanies, 1.1% Spanish, 1.1% Italian, 0.5% Moroccan, 0.5% Polish, 0.5% Saudi-Arabian, 0.5% Swiss and 0.5% Syrian. We included 16 premature born patients (27.-36. week of gestation). [ojrd.biomedcentral.com]

  MPS IIID has a higher-than-usual prevalence in Italian and Turkish populations [Valstar et al 2010a]. Differential Diagnosis Table 4. [ncbi.nlm.nih.gov]

• Falling

  Home modifications may be helpful for children to avoid falls or injuries at night. [ncbi.nlm.nih.gov]

  In MPS IVA patients the mean height of both genders start to fall markedly below the − 2 SD value at 4 years of age [33]. Growth velocity has not yet been described in MPS III patients. [ojrd.biomedcentral.com]

• Precocious Puberty

  The incidence of precocious puberty was 1.1% (1 female, 1 male) in the present study, and therefore lower than reported in the literature. Concolino et al. observed precocious puberty in 2/10 MPS IIIA patients [35]. [ojrd.biomedcentral.com]

• Delayed Speech Development

  In early childhood behavioral abnormalities, sleep disturbances and a delayed speech development become apparent followed by deterioration of neurological and motor function [13]. [ojrd.biomedcentral.com]

• Gagging

  Specifically, people with this condition are unable to break down a GAG called heparan sulfate. [rareguru.com]

  These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. [medlineplus.gov]

  Analysis of urinary glycosaminoglycans (GAG) (i.e., heparan sulfate) may be quantitative (measurement of total urinary GAG amount) or qualitative (GAG electrophoresis to analyze specific GAGs present in the urine). [ncbi.nlm.nih.gov]

  Sanfilippo syndrome results from the deficiency or absence of 4 different enzymes that are necessary to degrade the GAG heparan sulfate. [emedicine.medscape.com]

  They suspected that she might be suffering from inborn error of metabolism and preceded with metabolic screening and found that urinary glycosaminoglycan (GAG) was 71.3 (biological reference interval- 505.7 to 12.9) with the high status. [neurologyindia.com]

• Failure to Thrive

  […] regression Hirsutism Coarse facies Ichthyosis Abnormal enzymatic activity for multiple sulfatases RAI1 Smith-Magenis syndrome See footnote 1 Speech delay DD & cognitive impairment Sleep disturbance Behavioral outbursts Hyperactivity Infantile hypotonia & failure [ncbi.nlm.nih.gov]

• Hepatosplenomegaly

  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]

  Without the proper enzymatic degradation of the mucopolysaccharides, clinical symptoms, such as auditory and visual defects, cardiovascular pathologies, hepatosplenomegaly, and dysostosis multiplex, occur due to their accumulation in organ systems. [emedicine.medscape.com]

  In addition, coarse facial features, hepatosplenomegaly and skeletal dysostosis multiplex are common [1, 14, 15]. Adult MPS patients are generally of short stature [16]. [ojrd.biomedcentral.com]

• 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]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Ongoing research suggests SRT as a future therapeutic option for MPS III. [ncbi.nlm.nih.gov]

  Gradually child started leaving home, was found anywhere at random place playing alone referring a name of her cousin (not alive), suggestive of auditory hallucinations. [neurologyindia.com]

  Reports from the literature suggest a combination of several pathological mechanisms in bone formation, bone maturation, as well as endocrinological abnormalities [37,38,39]. [ojrd.biomedcentral.com]

• Hyperactivity

  Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. [rareguru.com]

  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]

  This is often followed by increasing hyperactivity and a rapid diminution in attention span. Aggression is common and many children are destructive. [neurologyindia.com]

  In the toddler years, aggressive behaviors emerge, with marked hyperactivity and destructive tendencies. Somatic features, such as mild organomegaly, little to no corneal clouding, and orthopedic abnormalities, may be present. [emedicine.medscape.com]

• Seizure

  Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. [rareguru.com]

  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]

Precise identification of the specific form of Sanfilippo syndrome relies on enzymatic assays (see Workup). [emedicine.medscape.com]

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]

There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer. [rareguru.com]

Prognosis Sanfilippo syndrome is a progressive disorder with a very poor prognosis. Severe CNS degeneration occurs, with progression to a vegetative state. [emedicine.medscape.com]

Epidemiology Frequency International In 1997, Nelson reported an incidence of 1 case per 280,000 live births (0.36 cases per 100,000 live births) for Sanfilippo syndrome in Northern Ireland. [7] In 1999, Poorthuis and others reported an incidence of 4.5 [emedicine.medscape.com]

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]

Pathophysiology The clinical features of Sanfilippo syndrome, including the significant CNS component (brain and spinal cord), result from the progressive lysosomal accumulation of the GAG heparan sulfate. [5] Four enzymes are involved in the different [emedicine.medscape.com]

The pathophysiology of the short stature and the altered growth pattern in MPS III is not completely understood. [ojrd.biomedcentral.com]

Construction of LMS parameters for the Centers for Disease Control and Prevention 2000 growth charts. Natl Health Stat Rep. 2013;63:1–3. Google Scholar Schaffrath Rosario A, Schienkiewitz A, Neuhauser H. [ojrd.biomedcentral.com]

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]