Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil

@article{Santos2008TreatmentOA,
  title={Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil},
  author={M. Lauren Zabala Santos and Salmo Raskin and D. Telles and Alfredo L{\"o}hr Junior and Paulo Liberalesso and Sabas Carlos Vieira and Mara L Cordeiro},
  journal={Journal of Inherited Metabolic Disease},
  year={2008},
  volume={31},
  pages={357-361}
}
SummaryNiemann–Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures. Currently, there is no specific treatment for NPC other than palliative care. Substrate reduction therapy represents a potential strategy for treating this debilitating neurodegenerative disorder. Miglustat (Zavesca) is a reversible inhibitor… 

Reviewdisease type C

The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin, and genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.

ReviewNiemann-Pick disease type C

The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin and genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C

The effects of miglustat on patient ambulation, fine and gross motor function, swallowing, hearing, speech, seizures, psychomotor development, and ocular movements were evaluated and Miglustat was well tolerated.

Miglustat in Niemann-Pick disease type C patients: a review

The effects of miglustat on neurological NP-C manifestations has been assessed using a range of approaches, with benefits ranging from cellular changes in the brain through to visible clinical improvements and improved survival.

Niemann-Pick disease type C

  • M. Vanier
  • Medicine
    Orphanet journal of rare diseases
  • 2010
The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin, and genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Findings demonstrated clinically relevant beneficial effects of miglustat on neurological disease progression in adult, juvenile and pediatric patients with NP-C, particularly those diagnosed in late childhood (6–11 years) and in juveniles and adults (12 years and older), compared with those diagnosis in early childhood (younger than 6 years).

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Findings indicate that a therapy capable of improving or stabilising swallowing function might reduce the risk of aspiration pneumonia, and could have a positive impact on patient survival, and that Miglustat, currently the only approved disease-specific therapy for NP-C in children and adults, has been shown to stabilise key neurological manifestations, including dysphagia.

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease

The most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition are described.

References

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Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

It is concluded that miglustat can provide therapeutic benefits in CNS symptoms and allows stabilization of systemic disease in childhood-onset NP-C.

Niemann-Pick disease type C

  • M. Vanier
  • Medicine
    Orphanet journal of rare diseases
  • 2010
The primary laboratory diagnosis requires living skin fibroblasts to demonstrate accumulation of unesterified cholesterol in perinuclear vesicles (lysosomes) after staining with filipin, and genotyping of patients is useful to confirm the diagnosis in the latter patients and essential for future prenatal diagnosis.

The natural history of Niemann–Pick disease type C in the UK

There is a clear need to develop a specific treatment for this progressively debilitating neurodegenerative disorder, and a review of NPC patients in the UK confirms the phenotypic variability of this inherited lipid storage disorder.

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

The adult form of Niemann-Pick disease type C.

The 'variant' biochemical phenotype characterized by mild abnormalities of the cellular trafficking of endocytosed cholesterol was over-represented in the adult form of NPC and seemed associated with less frequent splenomegaly in childhood and lesser psychiatric signs.

[Niemann-Pick disease type C].

Niemann-Pick disease type C is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not yet been clarified, and many therapies, i.e. dimethyl sulfoxide, low-cholesterol diet and transplantations, have been challenged but improvement of neurological symptoms have not been reported.

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

Motion analysis of a child with Niemann–Pick disease type C treated with miglustat

Motion analysis provided quantitative data on the patient's gait, however, dementia and motor dysfunction progressed despite the treatment, and the patient lost the ability to walk between 9 and 12 months of the study.

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

PART 16 : LYSOSOMAL DISORDERS Chapter 145 : Niemann-Pick Disease Type C : A Lipid Trafficking Disorder

The true prevalence of Niemann-Pick disease type C has been underestimated because of confusing terminology, the lack of a definitive diagnostic test prior to the discovery of the abnormalities of cellular cholesterol processing, and failure to recognize the clinical phenotypes.