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Academia Mexicana de Neurología, A.C.

2018, Number 2

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Rev Mex Neuroci 2018; 19 (2)

Fabry disease. Report of twelve cases

Rodríguez-Rivera SL, Silva-Ramírez MA, Castro-Tarín M, López-Cebada F

Language: Spanish
References: 19
Page: 4-14
PDF size: 337.10 Kb.


ABSTRACT

Introduction: Fabry disease is one of the lysosomal storage diseases caused by deficiency of the enzyme alpha galactosidase acid. In childhood and adolescence, paroxysmal pain and acroparesthesias are characteristic.
Objective: Report clinical characteristics, pain scale, level of IQ and quality of life in children with Fabry disease.
Methods: The most frequent neurological manifestations were determined by clinical history and neurological examination of children with Fabry Disease receiving enzyme replacement therapy at the HG CMN La Raza, from January to May 2016. Brief Pain Inventory,4 quality of life SF366 survey and Wechsler’s scale of intelligence for children reviewed (WISC-R) Verbal Scale5 were applied.
Results: We included 12 patients. Female gender (67%). Onset of neurological manifestations: male 6.25 years old and female 9.12 years old. Autonomic and sensitive neuropathy were the most frequent neurological manifestations. Nine patients presented neuropathic pain (75%), with pain improvement after treatment as reported by the parents in the clinical record. We found 3 patients with borderline IQ and 3 patients with IQ below normal, arithmetic most affected. Seven patients presented quality of life level of 51-60, with greater affectation in social function and body pain, a situation that has improved with the use of enzymatic therapy according to what was referred by the relatives.
Conclusions: Enzyme replacement therapy produces improvement in pain scale, cognitive level and quality of life in children treated at IMSS, which is similar to that reported in international literature.


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