Ophthal Plast Reconstr Surg, Vol. 30, No. 6, 2014
Case Reports
Anatomical Characteristics and Surgical Treatment of Bilateral Congenital Upper Eyelid Entropion in an Infant With Neonatal Progeroid Syndrome Bülent Yazıcı, M.D.*, Fatih Toka, M.D.*, and Arzu T. Çömez, M.D.† Abstract: Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder characterized by an aged face, wrinkled skin, decreased subcutaneous fat, and neonatal teeth. The authors describe herein a 2-month-old infant with NPS who underwent eyelid surgery for bilateral upper eyelid entropion and stromal keratitis. The preoperative examination revealed thin, narrow, and soft tarsal plates. The eyelids were large and floppy, and there was no preaponeurotic fat tissue. The entropion was successfully treated by the levator muscle advancing onto the tarsus, anterior lamellar repositioning, horizontal eyelid shortening, and canthal resuspension. Upper eyelid entropion may occur relatively frequently in infants with NPS, and the special anatomical features of the eyelid should be considered while performing entropion surgery.
P
rogeria refers to premature aging. Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder. It was first described in 2 patients by Rautenstrauch and Snigula1 in 1977 and in 2 more patients by Wiedemann2 in 1979. Although not reported in these original cases, several ocular abnormalities were reported in later cases.3 Herein, a case of NPS was presented with bilateral congenital upper eyelid entropion and its surgical treatment.
CASE REPORT A 40-day-old male infant was referred for bilateral upper eyelid abnormalities and corneal opacities (Fig. A). The patient, who was delivered vaginally at term, was the first-born child of a nonconsanguineous couple who were 29 and 31 years old. There was no family history of a similar disorder. The mother stated that the infant’s eyelids were not visible since birth, and he slept with his eyes open. The extraocular abnormal findings included an “agedlooking,” triangular face, macrocephaly, widened fontanelles, temporal depression, prominent scalp veins, hypotrichosis of the eyebrows, low-set ears, beaked nose, neonatal teeth, small mouth, generalized lipodystrophy, muscular appearance, large joints, cryptorchidism, and prepuce hypoplasia (Fig. I). His weight and head circumference at birth were lower than the third percentile. Ocular examination revealed that the upper eyelids were in an inverted position in OU. The eyelids were soft and large, as in floppy eyelid syndrome. The pretarsal part of the eyelid was edematous, thick, and pale; the superior sulcus was hollow (Fig. B and C). Epithelial defects with stromal infiltration were Accepted for publication August 21, 2013. *Department of Ophthalmology, Uludag University, Bursa; and †Department of Ophthalmology, Çanakkale Onsekiz Mart University, Çanakkale, Turkey The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Bülent Yazici, M.D., Department of Ophthalmology, Uludağ University, Bursa 16059, Turkey. E-mail: [email protected] DOI: 10.1097/IOP.0000000000000017
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present in the upper portion of both corneas. The stromal infiltration was small and superficial in the OD and large, dense, and associated with corneal neovascularization in the OS. The other ocular structures were normal. An eyelid surgery was performed on the 50th day of the patient’s life, starting from the left side. A skin incision was made 6 mm above the eyelash line. The orbital septum was distinguished as being a nonelastic structure, adherent to the orbital rim under the orbicularis muscle. There was no preaponeurotic fat tissue under the septum. To avoid surgical trauma to the levator muscle, the dissection was made posteriorly using Westcott scissors (Storz Ophthalmics, St. Louis, MO) along the posterior surface of the septum. A whitish, tendinous structure, which is specific to the levator aponeurosis, was not observed. Instead, a thin muscle layer allowing the iris reflection to be seen was observed (Fig. D). The orbicularis muscle was dissected from the tarsus down to the eyelash roots. The tarsal plate was very soft, thin, and narrow (about 3 mm). A double-armed 6.0 polyglactin suture was passed through the levator muscle, then through the orbicularis muscle and skin at the level of distal eyelid, exiting just behind the lash line, and then tied so that the eversion of the eyelashes would be obtained. Additional sutures were placed in the lateral and medial parts of the eyelid in a similar manner. This technique led to folding and retraction of the upper eyelid from the ocular surface. Lateral cantholysis, horizontal eyelid shortening, and canthal resuspension procedures were then performed to correct this deformity. In the OD, horizontal eyelid shortening without canthal disruption was performed in the upper eyelid and lateral canthal shortening and resuspension in the lower eyelid (Fig. E). Postoperatively, topical moxifloxacin hydrochloride 0.5% eye drops and artificial tears were given for 4 weeks. Corneal swab cultures grew Pseudomonas aeruginosa. After surgery, the entropion and keratitis resolved in the OS but persisted in the OD (Fig. F). At the second session, an anterior lamellar reposition was performed in the OD similar to the procedure previously performed in the OS (Fig. G). At 22 months after the first surgery, there was no entropion but a segmental trichiasis in the most medial part of the right eyelid (Fig. H). The patient died of pneumonia and sepsis at age 27 months.
DISCUSSION Twenty-four cases of NPS had been reported by 2011, all of which appeared in nonophthalmology journals.3 The ocular abnormalities, such as proptosis, hypertelorism, sunken eyes, blepharophimosis, hypotrichosis of eyebrow and eyelashes, epicanthal fold, short upper eyelids, entropion, upward slanting palpebral fissure, lower eyelid swelling, microphthalmia, esotropia, cataract, keratitis, and corneal perforation, were recorded in 10 of 24 cases.3–7 Bilateral entropion was reported in 3 of 24 patients.4,5 One patient who died at 43 days of age had bilateral upper eyelid entropion leading to bilateral keratitis and corneal perforation.5 Another patient was reported as having lower eyelid entropion and short upper eyelids and underwent a tarsorrhaphy at 16 months of age.4 In the third patient, no information was available other than the presence of bilateral entropion.4 Congenital entropion is frequently complicated by keratitis and may be easily overlooked in a child with secondary blepharospasm while crying.8–10 In another case of NPS with keratitis who survived for 6 months, the underlying cause may have been a missed entropion.7 Patients with NPS usually survive
Case Reports
Anatomical Characteristics and Surgical Treatment of Bilateral Congenital Upper Eyelid Entropion in an Infant With Neonatal Progeroid Syndrome Bülent Yazıcı, M.D.*, Fatih Toka, M.D.*, and Arzu T. Çömez, M.D.† Abstract: Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder characterized by an aged face, wrinkled skin, decreased subcutaneous fat, and neonatal teeth. The authors describe herein a 2-month-old infant with NPS who underwent eyelid surgery for bilateral upper eyelid entropion and stromal keratitis. The preoperative examination revealed thin, narrow, and soft tarsal plates. The eyelids were large and floppy, and there was no preaponeurotic fat tissue. The entropion was successfully treated by the levator muscle advancing onto the tarsus, anterior lamellar repositioning, horizontal eyelid shortening, and canthal resuspension. Upper eyelid entropion may occur relatively frequently in infants with NPS, and the special anatomical features of the eyelid should be considered while performing entropion surgery.
P
rogeria refers to premature aging. Neonatal progeroid syndrome (NPS) is a rare, autosomal recessive disorder. It was first described in 2 patients by Rautenstrauch and Snigula1 in 1977 and in 2 more patients by Wiedemann2 in 1979. Although not reported in these original cases, several ocular abnormalities were reported in later cases.3 Herein, a case of NPS was presented with bilateral congenital upper eyelid entropion and its surgical treatment.
CASE REPORT A 40-day-old male infant was referred for bilateral upper eyelid abnormalities and corneal opacities (Fig. A). The patient, who was delivered vaginally at term, was the first-born child of a nonconsanguineous couple who were 29 and 31 years old. There was no family history of a similar disorder. The mother stated that the infant’s eyelids were not visible since birth, and he slept with his eyes open. The extraocular abnormal findings included an “agedlooking,” triangular face, macrocephaly, widened fontanelles, temporal depression, prominent scalp veins, hypotrichosis of the eyebrows, low-set ears, beaked nose, neonatal teeth, small mouth, generalized lipodystrophy, muscular appearance, large joints, cryptorchidism, and prepuce hypoplasia (Fig. I). His weight and head circumference at birth were lower than the third percentile. Ocular examination revealed that the upper eyelids were in an inverted position in OU. The eyelids were soft and large, as in floppy eyelid syndrome. The pretarsal part of the eyelid was edematous, thick, and pale; the superior sulcus was hollow (Fig. B and C). Epithelial defects with stromal infiltration were Accepted for publication August 21, 2013. *Department of Ophthalmology, Uludag University, Bursa; and †Department of Ophthalmology, Çanakkale Onsekiz Mart University, Çanakkale, Turkey The authors have no financial or conflicts of interest to disclose. Address correspondence and reprint requests to Bülent Yazici, M.D., Department of Ophthalmology, Uludağ University, Bursa 16059, Turkey. E-mail: [email protected] DOI: 10.1097/IOP.0000000000000017
e164
present in the upper portion of both corneas. The stromal infiltration was small and superficial in the OD and large, dense, and associated with corneal neovascularization in the OS. The other ocular structures were normal. An eyelid surgery was performed on the 50th day of the patient’s life, starting from the left side. A skin incision was made 6 mm above the eyelash line. The orbital septum was distinguished as being a nonelastic structure, adherent to the orbital rim under the orbicularis muscle. There was no preaponeurotic fat tissue under the septum. To avoid surgical trauma to the levator muscle, the dissection was made posteriorly using Westcott scissors (Storz Ophthalmics, St. Louis, MO) along the posterior surface of the septum. A whitish, tendinous structure, which is specific to the levator aponeurosis, was not observed. Instead, a thin muscle layer allowing the iris reflection to be seen was observed (Fig. D). The orbicularis muscle was dissected from the tarsus down to the eyelash roots. The tarsal plate was very soft, thin, and narrow (about 3 mm). A double-armed 6.0 polyglactin suture was passed through the levator muscle, then through the orbicularis muscle and skin at the level of distal eyelid, exiting just behind the lash line, and then tied so that the eversion of the eyelashes would be obtained. Additional sutures were placed in the lateral and medial parts of the eyelid in a similar manner. This technique led to folding and retraction of the upper eyelid from the ocular surface. Lateral cantholysis, horizontal eyelid shortening, and canthal resuspension procedures were then performed to correct this deformity. In the OD, horizontal eyelid shortening without canthal disruption was performed in the upper eyelid and lateral canthal shortening and resuspension in the lower eyelid (Fig. E). Postoperatively, topical moxifloxacin hydrochloride 0.5% eye drops and artificial tears were given for 4 weeks. Corneal swab cultures grew Pseudomonas aeruginosa. After surgery, the entropion and keratitis resolved in the OS but persisted in the OD (Fig. F). At the second session, an anterior lamellar reposition was performed in the OD similar to the procedure previously performed in the OS (Fig. G). At 22 months after the first surgery, there was no entropion but a segmental trichiasis in the most medial part of the right eyelid (Fig. H). The patient died of pneumonia and sepsis at age 27 months.
DISCUSSION Twenty-four cases of NPS had been reported by 2011, all of which appeared in nonophthalmology journals.3 The ocular abnormalities, such as proptosis, hypertelorism, sunken eyes, blepharophimosis, hypotrichosis of eyebrow and eyelashes, epicanthal fold, short upper eyelids, entropion, upward slanting palpebral fissure, lower eyelid swelling, microphthalmia, esotropia, cataract, keratitis, and corneal perforation, were recorded in 10 of 24 cases.3–7 Bilateral entropion was reported in 3 of 24 patients.4,5 One patient who died at 43 days of age had bilateral upper eyelid entropion leading to bilateral keratitis and corneal perforation.5 Another patient was reported as having lower eyelid entropion and short upper eyelids and underwent a tarsorrhaphy at 16 months of age.4 In the third patient, no information was available other than the presence of bilateral entropion.4 Congenital entropion is frequently complicated by keratitis and may be easily overlooked in a child with secondary blepharospasm while crying.8–10 In another case of NPS with keratitis who survived for 6 months, the underlying cause may have been a missed entropion.7 Patients with NPS usually survive
