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mucopolysaccharidoses/cefaleia
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Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
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Central nervous system manifestations of mucopolysaccharidosis type I (MPS I) such as cognitive impairment, hydrocephalus, and spinal cord compression are inadequately treated by intravenously-administered enzyme replacement therapy with laronidase (recombinant human alpha-L-iduronidase). While
Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy.
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Mucopolysaccharidosis (MPS) Type VI, or Maroteaux-Lamy syndrome, is characterized by a deficiency of the enzyme arylsulfatase B (ASB). In patients with this disorder, craniocervical compression, carpal tunnel syndrome, and communicating hydrocephalus are common. Traditionally, hydrocephalus
Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical, radiological, and neurosurgical features.
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BACKGROUND
Neurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is a critical aspect that severely influences the morbidity and mortality of MPS
Tuberculous hypertrophic pachymeningitis presenting as visual blurring and headaches.
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Hypertrophic cranial pachymeningitis is a rare chronic fibrosing inflammatory disease characterised by localized or diffuse thickening of duramater, leptomeninges, and tentorium. The etiology is diverse and includes infectious, granulomatous and inflammatory disorders, collagen vascular disorders,
Thrombocytopenia associated with galsulfase treatment.
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Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder that results from a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ASB). It is a relatively rare disorder, with an estimated incidence of 1 in 248,000 to 1 in 300,000.
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