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2014, Number 3

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Rev Mex Pediatr 2014; 81 (3)

Oculomotor abnormalities in Niemann-Pick C disease

Moguel-Ancheita S

Language: Spanish
References: 7
Page: 108-114
PDF size: 163.41 Kb.


ABSTRACT

Niemann-Pick type C is a rare but devastating disease. It is an autosomal recessive disease with neurovisceral involvement caused by mutation of the NPC1 gene in 95% of cases and 5% NPC2. In Mexico there is no established any protocol for diagnosis, and we have not identified the number of patients that corresponds with the population incidence. For clinical diagnosis has prompted the search for common signs such as paralysis of voluntary vertical gaze, however diligent oculomotor examination may demonstrate other less obvious changes, for example, in saccades, slow movement, nystagmus, blepharospasm and ocular apraxia. We believe that the proper oculomotor exploration in children with suspect of NP-C disease may establish earlier diagnosis.


REFERENCES

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  2. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013; 8: 12.

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