Nystagmus in Infantile Pompe Disease: a new feature?


Nystagmus in Infantile Pompe Disease: a new feature?


Authors

  • Emanuela Claudia Turco Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy
  • Carlotta Facini Child Neuropsychiatry Unit, Neuroscience Department, University of Parma, Parma, Italy
  • Benedetta Piccolo Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy
  • Francesco Pisani Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy

Keywords:

eye movements, Pompe disease

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.

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Published

07-09-2020

Issue

Section

CASE REPORTS

How to Cite

1.
Nystagmus in Infantile Pompe Disease: a new feature?
. Acta Biomed [Internet]. 2020 Sep. 7 [cited 2024 Apr. 16];91(3):e2020083. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/8366

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