We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum enzyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory results, acid α-glucosidase activity was determined from dried blood spots resulting lower than the normal range (0.2 mmol/L/h: normal reference range: 1,86-21,9 mmol/L/h) and leading to a diagnosis of infantile Pompe disease. She also showed multi-directional nystagmus. Refractive errors, ptosis and strabismus are described in infantile Pompe Disease, while nystagmus is rarely reported before. Therefore with this paper we highlight an atypical ocular symptom, whose uncertain pathogenesis, to be taken into consideration, because by now, with increasing survival with ERT, new phenotypes of Pompe disease are taking shape. (www.actabiomedica.it).

Nystagmus in infantile pompe disease: A new feature? / Turco, E. C.; Facini, C.; Piccolo, B.; Pisani, F.. - In: ACTA BIOMEDICA. - ISSN 2531-6745. - 91:3(2020), pp. 1-3. [10.23750/abm.v91i3.8366]

Nystagmus in infantile pompe disease: A new feature?

Pisani F.
2020

Abstract

We describe a 3 month-old female floppy infant with hypertrophic cardiomyopathy, serum enzyme levels, which were characterized by an aspartate aminotransferase level of 144 U/l, alanine transaminase 240 U/L and creatine kinase level of 543 U/l. On the basis of the clinical signs and laboratory results, acid α-glucosidase activity was determined from dried blood spots resulting lower than the normal range (0.2 mmol/L/h: normal reference range: 1,86-21,9 mmol/L/h) and leading to a diagnosis of infantile Pompe disease. She also showed multi-directional nystagmus. Refractive errors, ptosis and strabismus are described in infantile Pompe Disease, while nystagmus is rarely reported before. Therefore with this paper we highlight an atypical ocular symptom, whose uncertain pathogenesis, to be taken into consideration, because by now, with increasing survival with ERT, new phenotypes of Pompe disease are taking shape. (www.actabiomedica.it).
2020
Eye movements; Pompe disease
01 Pubblicazione su rivista::01i Case report
Nystagmus in infantile pompe disease: A new feature? / Turco, E. C.; Facini, C.; Piccolo, B.; Pisani, F.. - In: ACTA BIOMEDICA. - ISSN 2531-6745. - 91:3(2020), pp. 1-3. [10.23750/abm.v91i3.8366]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1670076
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