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2020, Number 1

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Rev Cubana Neurol Neurocir 2020; 10 (1)

External ophthalmoplegia and visceromegaly as alert for Gaucher disease in patients suffering neurodevelopmental disorders

Biart VA, Castro VP, Valdivia MR, García GRJ

Language: Spanish
References: 17
Page: 1-14
PDF size: 212.73 Kb.


ABSTRACT

Objective: To assess the importance of the association of visceromegaly and early-onset external ophthalmoplegia, in patients with neurodevelopmental disorders, for the diagnosis of the neuropathic form of Gaucher disease.
Clinical case report: A six-month-old infant was admitted for showing global neurodevelopmental involvement, microcephaly, frequent posture of neck and trunk hyperextension (opisthotonos), recurrent cyanosis crises, hepatomegaly, splenomegaly, and evident limitation of bilateral extrinsic ocular motility. Furthermore, delayed ossification was evident in the patient. The existence of hepatosplenomegaly and limitation of bilateral extrinsic ocular motility were decisive manifestations in the clinical diagnosis, although initially there were doubts regarding neurodevelopmental involvement (delay vs. regression). However, the determination of L444P mutation of GBA1 gene allowed the definitive diagnosis.
Conclusions: The presence of visceromegaly and early-onset bilateral external ophthalmoplegia, in patients with neurodevelopmental disorders, are manifestations that suggest Gaucher disease neuropathic form (type 2). These patients may have atypical manifestations such as neurodevelopmental delay and bone involvement.


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