PURPOSE: The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy. DESIGN: Single case description. RESULTS: This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures. CONCLUSIONS: The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.
PURPOSE: The assets of this report are a thorough description of new clinical findings, namely the combination of ptosis, extraocular motility disorder and myopia, in consequence of prolonged survival in classic infantile-onset Pompe disease through enzyme therapy. DESIGN: Single case description. RESULTS: This manuscript describes a combination of ptosis, extraocular motility disorder and myopia in a 4.5-year-old patient with classic infantile-onset Pompe disease, who survived through enzyme therapy. This patient was treated with a bilateral frontalis suspension (modified Crawford technique) using prolene 3-0 sutures. CONCLUSIONS: The combination of ptosis, extraocular motility disorder and myopia, is a new clinical finding in children with classic infantile-onset Pompe disease.
Authors: C M van Gelder; C I van Capelle; B J Ebbink; I Moor-van Nugteren; J M P van den Hout; M M Hakkesteegt; P A van Doorn; I F M de Coo; A J J Reuser; H H W de Gier; A T van der Ploeg Journal: J Inherit Metab Dis Date: 2011-10-19 Impact factor: 4.982