Keywords Blepharoptosis - Kearns-Sayre syndrome - Chronic progressive external opthalmoplegia
- Blepharoplasty
INTRODUCTION
Kearns-Sayre syndrome (KSS), first described in 1958 [[1 ]], is rare and results from a mitochondrial disorder. Few cases of similar blepharoplastic
procedures in patients suffering from chronic progressive external ophthalmoplegia
(CPEO) or KSS have been reported to date [[2 ],[3 ]]. This case illustrates a very common condition in plastic surgery underlying an
uncommon disease that is unfamiliar to plastic surgeons. Moreover, controversy remains
regarding the optimal surgical procedure. Here, we present our case and review and
discuss the relevant literature.
CASE
A 52-year-old man with a 20-year history of progressive bilateral blepharoptosis ([Fig. 1A ]) who underwent a levator aponeurosis operation on the right side 12 years prior
presented with recurrent ptosis of both eyes, with a greater defect on the right side.
The eyelid excursion was 2 mm on the right side and 4 mm on the left side preoperatively
([Fig. 1B ]). Other than his ptosis, the man, who was of small stature, underwent the first
operation when his friends noticed that he suddenly looked tired and looked like he
had grown older. However, one year after the surgery, he already had a remarkable
recurrence of his ptosis, whereupon a detailed investigation was undertaken to identify
the underlying disease. Funduscopic findings resembled retinitis pigmentosa. Electromyography
showed no abnormal spontaneous activity, but a few action potentials with reduced
amplitude were detected. Light microscopy of a biopsy from the deltoid muscle showed
single ragged red fibers, and enzyme histochemistry demonstrated cytochrome oxidase-negative
fibers. Hematological investigations were normal apart from mildly increased lactate
(2.5×109 /L; upper limit of normal, 2.0×109 /L) and total protein in the cerebrospinal fluid (CSF, 45.2 mg/dL; upper limit of
normal, 43.0 mg/dL).
Fig. 1 Case presentation
(A, B) A 52-year-old male patient with a 20-year history of progressive bilateral
blepharoptosis who had recurrent blepharoptosis after a previous levator aponeurosis
operation on the right side 12 years earlier.
The diagnosis of KSS was made. Over the next 5 years, the patient's ptosis worsened
to the extent that it prevented him from safely operating a vehicle or performing
his job as a cabinet maker. Additionally, he relied on hearing aids, as his hearing
had also declined in recent years. Therefore, blepharoplasty and frontalis suspension
were performed on both eyes. The first operation was performed on the right side,
and the left side was reconstructed two weeks later. Additionally, the patient received
continuous coenzyme Q10 treatment to prevent further disease progression. Regular
follow-up and symptomatic and supportive care were provided.
Subsequent ptosis surgery of the right eye involved the harvesting of the flexor carpi
radialis (FCR) tendon (the palmaris longus tendon was missing) from the left forearm
and using it as an autologous sling material for frontalis suspension surgery. Therefore,
a 100-mm-long and 3-mm-wide piece of the FCR tendon was harvested from the right forearm
and subsequently separated into two 100-mm-long and 1.5-mm-wide strips. Excess skin
was excised and removed, and upper eyelid blepharoplasty was performed. Additionally,
three 10-mm-long incisions were made symmetrically above the right eyebrow, and three
tunnels under the eyebrow were prepared with thin cannulas. The four ends of the prepared
strips were then guided through the three tunnels ([Fig. 2A ]). While the lower part of the sling was anchored at the tarsus using 6-0 prolene,
the four ends were joined with 5-0 prolene superiorly, creating two circular slings
and thereby adjusting the ptosis ([Fig. 2B ]). The skin was closed with subcuticular continuous 6-0 prolene sutures, and the
wounds were dressed.
Fig. 2 Intraoperative view
(A, B) Tunnels under the eyebrow were prepared with thin cannulas. Flexor carpi radialis
tendon strips were guided through the tunnels as autologous sling material for frontalis
suspension.
Immediate postoperative eyelid excursion was 12 mm on the right eye and 14 mm after
the second surgery on the left eye ([Fig. 3 ]). Six-month postoperative follow-up showed eyelid excursion of 11 mm on the right
eye and 14 mm on the left eye ([Fig. 4A ]). One-year postoperative follow-up still showed excellent results with eyelid excursion
of 11 mm on the right eye and 14 mm on the left eye without lagophthalmos. The patient
was very pleased and was able to take a job as a taxi driver and continue working
([Fig. 4B ]). To continue evaluating the course of the disease, the patient is currently under
the ongoing care of an internist.
Fig. 3 Immediate postoperative result
(A, B) Immediate postoperative result, after skin closure and successful ptosis adjustment
of the right eye with frontalis suspension.
Fig. 4 Postoperative results
(A) Results 6 months postoperatively. (B) Results 12 months postoperatively.
DISCUSSION
CPEO is not rare as compared to KSS. Nonetheless, most plastic surgeons are unfamiliar
with these disorders. KSS was first described in 1958 as the simultaneous appearance
of external ophthalmoplegia with pigmentary degeneration of the retina, heart block,
and skeletal myopathy underlying a mitochondrial disorder [[1 ],[4 ]]. It sporadically develops in early adolescence and is a rarely observed syndrome,
but the true incidence is unknown. Bilateral ptosis is often an early symptom. Additional
findings can include short stature, cerebellar dysfunction, increased CSF protein
levels, sensorineural hearing loss, and diabetes. Because these symptoms can be associated
with a wide range of diseases, many investigations and a multidisciplinary team of
medical specialists are required to thoroughly evaluate these patients. Investigations
include cranial magnetic resonance imaging, the tension test, ophthalmoscopy, electromyography,
and nerve conduction velocity measurement as well as the analysis of blood, urine,
and CSF. If substantial suspicion for KSS exists, muscle biopsy, electrocardiography,
a treadmill stress test, and detailed endocrine testing must be performed. A molecular
genetic workup of mitochondrial DNA mutations allows an accurate diagnosis. The syndrome
is slowly progressive with a variable prognosis depending on the severity of the symptoms.
At present, treatment is very limited and narrowed to symptomatic and supportive care
[[3 ]]. Limited progression and improvement of symptoms can be achieved by the systemic
administration of coenzyme Q10 [[5 ]].
Here, we described recurrent bilateral blepharoptosis after previous surgical treatment
in a 52-year-old patient. The reoccurrence of blepharoptosis could have been caused
by either disease progression or insufficient previous surgery. To date, few surgical
treatments for blepharoptosis in KSS have been reported [[2 ],[3 ],[6 ]]. Some ophthalmology studies have been reported, but in these studies, the surgical
procedure for correcting eyelid ptosis was always secondary, or no long-term data
were available.
In 2007, Papageorgiou et al. [[3 ]] presented a case of a 16-year-old patient with blepharoptosis due to KSS who underwent
a levator advancement procedure. Although they reported a good result 18 months postoperatively,
the functional loss of the levator palpebrae muscle cannot be corrected using this
method. The underlying problem is the myopathy that involves the levator and orbicularis
oculi muscles, leading to ptosis and poor lid closure [[6 ]]. Levator advancement cannot adequately correct this problem; a shorter muscle-aponeurosis
complex can be created, but the functional problem will remain. We believe that functional
reconstruction, similar to frontalis suspension [[7 ]], will lead to the best result. Although the frontalis muscle is not entirely spared
[[8 ]] by the disease, it appears to be less, and much later, affected and therefore,
is useful for the frontalis suspension surgery. The levator palpebrae on the other
hand is usually affected primarily and loses its entire function at a faster rate
over time.
