|Year : 2021 | Volume
| Issue : 3 | Page : 277-279
Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome
Reshma Ramakrishnan, Sayali Santosh Amberkar, Priyanka Gandhi
Department of Ophthalmology, MGM Hospital, Navi Mumbai, Maharashtra, India
|Date of Submission||20-Jan-2021|
|Date of Acceptance||01-Apr-2021|
|Date of Web Publication||09-Sep-2021|
Dr. Sayali Santosh Amberkar
Department of Ophthalmology, MGM Hospital, Kamothe, Navi Mumbai - 410 209, Maharashtra
Source of Support: None, Conflict of Interest: None
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We report a case of 7-month-old female child who presented to us with watering of both eyes since birth and failure to thrive. Examination revealed peculiarities of BPES with bilateral congenital nasolacrimal duct obstruction (CNLDO) and associated findings of bilateral sensorineural hearing loss (SNHL) and cleft palate. Initially, conservative management followed by probing, cleft palate correction, and V-Y plasty was advised and ptosis correction planned at later age. There are several ocular and nonocular associations with BPES, but CNLDO, cleft palate, and SNHL together have never been reported to the best of our knowledge.
Keywords: Blepharophimosis-ptosis-epicanthus inversus syndrome, congenital nasolacrimal duct obstruction, sensorineural hearing loss
|How to cite this article:|
Ramakrishnan R, Amberkar SS, Gandhi P. Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome. TNOA J Ophthalmic Sci Res 2021;59:277-9
|How to cite this URL:|
Ramakrishnan R, Amberkar SS, Gandhi P. Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Dec 1];59:277-9. Available from: https://www.tnoajosr.com/text.asp?2021/59/3/277/325742
| Introduction|| |
Blepharophimosis-ptosis-epicanthus inversus is an inherited dysmorphic, autosomal dominant syndrome, which principally affects the soft tissues of the midface, with signs including blepharophimosis-ptosis-epicanthus inversus and telecanthus mainly. It is of two types: Type 1 is associated with primary ovarian failure and Type 2 has no systemic association. Incidental findings include microcornea, microphthalmos, strabismus, anophthalmos, hypermetropia, nystagmus, trichiasis, high arched palate, minor ear anomalies, cardiac defects, flat broad nasal bridge, mild mental retardation, and infertility in females (Oley and Baraister, 1988). The transmission, typically, is through affected males than affected females. The treatment of blepharophimosis requires coordination among oculoplastic surgeons, pediatric ophthalmologists, pediatric endocrinologists, and genetic counselors.
| Case Report|| |
A 7-month-old-female child was brought by parents to our outpatient department with a history of watering, discharge, and drooping of upper lid of both eyes since birth. Antenatal and perinatal history was unremarkable. An ophthalmology consult was taken when the child was 1 month old, and parents were advised Criggler's massage and topical antibiotic eye drops, but it was not done. On examination, the child had central, steady, and maintained fixation in both eyes. She had frontalis overaction with chin elevation [Figure 1] and [Figure 2]. She had bilateral severe ptosis with poor levator action, telecanthus, epicanthus inversus, and decreased horizontal palpebral fissure width. In both eyes, regurgitation on pressure over the lacrimal sac was positive.
|Figure 2: Ocular findings seen in blepharophimosis-ptosis-epicanthus inversus syndrome|
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The child also had cleft palate along with bilateral moderate sensorineural hearing loss (SNHL) on the brain stem evoked response audiometry [Figure 3]. The diagnosis of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) was made with rare association of cleft palate, congenital nasolacrimal duct obstruction (CNLDO), and SNHL. Chest X-ray was suggestive of aspiration pneumonia which was medically managed by the pediatrician and was referred to oral and maxillofacial department for the management of cleft palate as it was leading to repeated chest infections causing failure to thrive.
The parents were advised conservative management with topical antibiotic eye drops and Criggler's massage initially, probing and V-Y plasty along with correction of cleft palate and ptosis correction at later date.
| Discussion|| |
BPES is autosomal dominant disorder depicted by narrow eyes, bilateral ptosis with poor levator function, increased distance between the eyes, epicanthus inversus, and shortened horizontal palpebral fissures.
Various ocular and nonocular abnormalities are associated with BPES. It involves locus heterogeneity. The standard aberrations of lacrimal apparatus reported with BPES are upper and lower punctal displacement horizontally, punctal duplication, stenosis of canaliculi, posterior ectopia of the lower puncta, upper punctal aplasia, and congenital alacrima. Dysmorphism or systemic syndromes are often associated with maldevelopment of lacrimal outflow system. Lacrimal outflow obstruction may occur at various anatomic levels due to failure of the normal canalization of the buried epithelial cord either due to genetic or intrauterine factors. BPES has never been associated with CNLDO presumably because it principally affects the soft tissues of the midface, radically sparing the orbital bones. The failure of nasolacrimal duct canalization could have been due to the impact of the same genetic factors governing BPES.
Krieble and Bixler reported a boy and his father, who presented with blepharophimosis, epicanthus, cleft palate, ear anomalies, inguinal hernia, and minor hand/foot anomalies. Soon after birth, the boy was diagnosed with tetralogy of Fallot which was surgically corrected within the 1st year of life. Correlation of terminal deletion of chromosome 3p with blepharophimosis-mental retardation syndrome and 3q23 microdeletion with BPES was indicated. (Moncla et al., 1995).
Kokitsu-Nakata and Richieri-Costa, A. reported two Brazilian families with BPES in 1998. The girl and boy showed additional clinical signs as cleft palate and cleft lip and palate with familial recurrence in the fourth and third generations, respectively. Blepharophimosis, ptosis, and epicanthus inversus, but without lip and palatal involvement, was noted in other family members. Cleft lip and palate were recorded as additional signs of the BPES syndrome for the first time.
Laccone et al. reported an apparent dysmorphic syndrome, including hypotelorism, slight ptosis, epicanthal folds, microstomia, blepharophimosis, and dysmorphic ears seen in two siblings with inherited paternal SEPT9 mutation. Kaba et al. reported a case of 3-month-old female baby suffering from BPES who showed hypertrophic cardiomyopathy and cleft palate as associated features. Ao L et al. analyzed congenital SNHL in a case of BPES and found that these rare cases should be thoroughly examined for early treatment and intervention.
| Conclusion|| |
To the best of our knowledge, association of BPES with CNLDO and cleft palate has rarely been reported earlier and association of BPES with SNHL and cleft palate together has not been previously reported. Early diagnosis and management of BPES and associated anomalies are very important as it may lead to a negative impact and delay process of normal development of the child.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]