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Case Reports
. 2023 Mar 17:35:100969.
doi: 10.1016/j.ymgmr.2023.100969. eCollection 2023 Jun.

Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes

Yi-Hua Chen  1   2 , Pei-Wei Huang  3 , Yu-Jen Liu  2   4 , Yueh-Ju Tsai  1   2
Affiliations
Case Reports

Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes

Yi-Hua Chen et al. Mol Genet Metab Rep. .

Abstract

This retrospective observational case series is to evaluate the histopathological findings of drooping eyelids in patients with infantile-onset Pompe disease and assess the feasibility of levator muscle resection combined with conjoint fascial sheath suspension for ptosis correction. It included six patients from a single tertiary referral center with ptosis and infantile-onset Pompe disease between January 1, 2013, and December 31, 2021. They most suffered from recurrent ptosis after initial surgical correction (6/11 eyes, 54.55%). The recurrence rate was high in eyes with levator muscle resection alone (4/6 eyes, 66.67%). No recurrence of ptosis was observed in eyes with levator muscle resection combined with conjoint fascial sheath suspension. The follow-up period was approximately 16-94 months. Histopathological examination revealed that the levator muscle had the most abundant glycogen accumulation-related vacuolar changes, followed by Müller's muscle and extraocular muscles. No vacuolar changes were observed in the conjoint fascial sheath. For patients with infantile-onset Pompe disease-related ptosis, performing levator muscle resection alone is not sufficient, while utilizing conjoint fascial sheath suspension can achieve the desired long-term outcomes with minimal recurrence. These findings may have important implications for the management of ophthalmic complications in patients with infantile-onset Pompe disease.

Keywords: Conjoint fascia sheath; Infantile onset Pompe disease; Levator muscle; Pathology; Ptosis.

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Figures

Fig. 1
Fig. 1
Clinical photos and pathological sections of Case 1. A 7-year-old boy presenting with bilateral drooping eyelids (A). Ptosis improves after bilateral levator muscle resection (B). Recurrent ptosis develops after first operation (C). Ptosis improves without further deterioration after bilateral levator muscle resection combined with conjoint fascial sheath suspension (D). Pathological sections of levator muscle with hematoxylin and eosin staining reveal abundant vacuolar muscle fibers (E), which are positive with Periodic Acid-Schiff staining (F) but negative after pre-digestion with diastase (G). (Magnification 20×).
Fig. 2
Fig. 2
Clinical photos and pathological sections of Case 3. A 4-year-old girl presenting with bilateral drooping eyelids and intermittent exotropia (A). Ptosis improves after bilateral levator muscle resection (B). Recurrent ptosis and exacerbated exotropia develop after the first operation (C). Ptosis and strabismus improve without further deterioration after bilateral levator muscle resection combined with conjoint fascial sheath suspension plus strabismus correction (D). Pathological sections of levator muscle (E), Müller's muscle (F), medial rectus muscle (G) and conjoint fascial sheath (H) with hematoxylin and eosin staining in Case 3. (Magnification 20×).
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