Congenital canaliculops with punctal agenesis: is there a possibility to establish patency?

Canaliculops is a non-inflammatory dilatation of the canaliculus which can be secondary to trauma, punctal agenesis, herpetic infections or chronic drug use. This condition can affect either canaliculi and has shown female preponderance. Treatment described so far has consisted of cyst marsupialization with no literature on the post-operative epiphora in these cases. We describe two cases of canaliculops with punctal agenesis where we have tried to establish lacrimal patency.

Congenital Dacryocystocele: A Major Review.

PURPOSE: To provide a systematic review of the literature on congenital dacryocystoceles (CDCs) and summarize their presentations, investigations, management, and outcomes. METHODS: The authors performed a PubMed search of all articles published in English on CDCs. Data captured include demographics, clinical presentations, investigations, management modalities, complications, and outcomes. Fourteen major series (10 or more than 10 cases) and 89 isolated case reports/series on CDCs with a collective patient pool of 1,063 were studied in detail. Specific emphasis was laid on addressing the controversial issues including initial conservative versus surgical management and the role of endoscopic evaluation. RESULTS: Numerous terminologies have been used to describe CDC. Congenital dacryocystoceles are rare variants of congenital nasolacrimal duct obstructions and comprise of 0.1% to 0.3% of all such cases. There is a female predilection (64.2%, 683/1,063) and the mean age at presentation is at 7 days of birth. Initial conservative treatment can be a viable option in the absence of an acute dacryocystitis or a respiratory distress. Endoscopy-assisted probing appears to have better outcomes as compared with the in-office probing. Congenital dacryocystoceles with acute dacryocystitis are preferably managed with intravenous antibiotics and an early probing under endoscopy guidance to avoid missing intranasal cysts. Marsupialization is the preferred technique in the management of intranasal cysts. Silicone intubation was rarely used and has no definitive indications. Dacryocystorhinostomy is very rarely needed in the management of CDC. CONCLUSIONS: Congenital dacryocystocele is a commonly accepted term and its use should be advocated to enhance uniformity in reporting. Endoscopic evaluation of CDC is useful in the diagnosis and treatment of associated intranasal cysts and enhances the rates of successful outcomes.

Syndromic and Nonsyndromic Systemic Associations of Congenital Lacrimal Drainage Anomalies: A Major Review.

PURPOSE: To review and summarize the syndromic, nonsyndromic, and systemic associations of congenital lacrimal drainage anomalies. METHODS: The authors performed a PubMed search of all articles published in English on congenital lacrimal anomalies (1933-2016). Patients of these articles were reviewed along with the literature of direct references to syndromes and other systemic associations. Data reviewed included syndromic descriptions, systemic details, demographics, lacrimal presentations, management, and outcomes. RESULTS: Syndromic and systemic associations with congenital lacrimal drainage disorders are not known to be common. Although familial presentations have been reported, the inheritance patterns are unclear for most anomalies. There is an increasingly growing evidence of a genetic basis to many lacrimal anomalies. However, few syndromes have either widespread or are frequently associated with lacrimal anomalies. Few sequences of distinct lacrimal presentations and intraoperative findings are seen. Surgical challenges in these patients are distinct and a thorough pre and intraoperative anatomical assessment, detailed imaging when indicated, and assessment and correction of associated periocular and facial abnormalities may facilitate good outcomes. CONCLUSIONS: Lacrimal drainage anomalies associated with syndromic and nonsyndromic systemic conditions have certain unique features of their own and their surgical and anesthesia challenges are distinct. Diagnosis of congenital lacrimal drainage anomalies should prompt consideration of the possible presence of associated systemic abnormalities.

Histopathology and Immunophenotyping of Congenital Lacrimal (Anlage) Fistulae.

PURPOSE: To report the histopathological and immuno histochemical features of congenital lacrimal fistulae. METHODS: Retrospective chart review of all patients who underwent a fistulectomy for congenital lacrimal fistulae, over a 3-year period from a single surgeon's (M.J.A.) database, were included in the study. A detailed lacrimal system evaluation was performed, and intraoperative findings were documented. The excised fistulae were studied using hematoxylin and eosin and periodic acid-Schiff staining. Immunophenotyping was performed using CD3, CD5, CD10, and CD20. RESULTS: Twelve excised fistulae of 12 patients were studied. The mean age at presentations was 5.3 years (range, 3-11 years). The deeper parts of the fistulae were lined with hypertrophied stratified squamous epithelium similar to canalicular tissue in 83.3% (10/12), reflecting its origin from the canalicular tissue, and 16.7% (2/12) originated from the lacrimal sac and were lined with columnar epithelium with areas of squamous metaplasia. The subepithelial areas showed presence of fibrosis and chronic inflammatory infiltrate. The infiltrates were lymphoplasmacytic and were positive for CD3, CD5, and CD20 and negative for CD10 immunostaining. CONCLUSION: Hypertrophied stratified squamous lining was the commonest finding. Immunophenotyping revealed features of chronic inflammatory infiltrate composed of a mixture of both T and B lymphocytes. Histopathological analysis of fistulae may be of adjunctive value in determining the origin of the anlage.

Congenital lacrimal fistula: A major review.

The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

Bilateral dacryocystocele with an intranasal cyst as the cause of respiratory distress in a newborn.

A congenital dacryocystocele with an intranasal cyst is an uncommon lesion that is usually treated by ophthalmologists, although sometimes an otorhinolaryngologist is consulted first because of nasal obstruction. The nasal cavity is narrow in newborns and can easily be obstructed, even by small lesions. Prolapse or expansion of the cyst into the nose may lead to respiratory distress and difficulty in feeding, since newborns are obligate nose breathers. Here we report a case of bilatera dacryocystocele with intranasal extension in a 3-day-old female infant. The infant presented with respiratory distress and episodic desaturation and was managed successfully by bilateral endoscopic marsupialization of the intranasal cysts. This case report discusses the diagnosis and management and reviews the relevant literature. These finding suggest tha congenital dacryocystocele with an intranasal cyst must be considered in the differential diagnosis of newborns suffering from nasal respiratory difficulty.

Management of congenital dacryocystocele: report of 3 clinical cases.

This case study describes three newborns referred to our otolaryngologic service for investigating and treating a cystic dilatation of the lacrimal duct. These dilatations corresponded to unilateral or bilateral dacryocystoceles, with or without complications. The first newborn exhibited respiratory distress at birth and received early surgery and endoscopic marsupialization of intranasal and bilateral cysts. The second newborn did not show any signs of complications, and after conservative treatment for a week, the cyst spontaneously resolved. The third newborn was diagnosed in utero with ultrasonography, and the cyst resolved spontaneously during childbirth. These cases provided an opportunity to review the pathophysiology of this rare congenital lacrimal anomaly and to note responses to different therapeutic approaches. Indeed, these three cases illustrated three different management approaches, and allowed us to address the issue of prenatal diagnosis.

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absence of tears). The mutations in NGLY1 resulted in the absence of N-glycanase 1 protein in patient-derived fibroblasts. Applying a recently established cellular deglycosylation-dependent Venus fluorescence assay, we found that patient fibroblasts had dramatically reduced fluorescence, indicating a pronounced reduction in N-glycanase enzymatic activity. Using this assay, we could find no evidence of other related activities. Our findings reveal that NGLY1 mutations destroy both N-glycanase 1 protein and enzymatic activity.

Association between congenital nasolacrimal duct obstruction and delivery by cesarean section.

OBJECTIVE: Congenital nasolacrimal duct obstruction (CNDO) is the most common cause of neonatal epiphora. Persistence can lead to chronic dacryocystitis and amblyopia. This study analyzed the association between the incidence of CNDO and delivery by cesarean section. STUDY DESIGN: This was a retrospective cohort study of 386 children with CNDO (born between 2000 and 2008). The incidence of the delivery mode in patients with CNDO was compared with data from a corresponding population derived from annual birth statistics. RESULTS: There was no statistically significant association between the overall cesarean section rate and the incidence of CNDO, but primary cesarean section was significantly more frequent among patients with CNDO (73.15%, p < 0.05). The difference was significant for both genders for the period from 2000 to 2008 (p < 0.05%). The relative risk for CNDO was 1.7-fold increased in children delivered by primary cesarean section. CONCLUSION: Primary cesarean section may be a risk factor for CNDO.

Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

Urgent bilateral endoscopic marsupialization for respiratory distress due to bilateral dacryocystitis in a newborn.

We describe an infant with respiratory distress due to bilateral dacryocystoceles and dacryocystitis who was successfully treated with urgent bilateral endoscopic marsupialization. A male infant was brought to our outpatient department 7 days after birth, with red, acutely inflamed swellings near the medial canthal area of both eyes. From birth, there had been bluish swelling near the medial canthal area, and redness and swellings developed within 3 days. On physical examination, the child was afebrile but showed respiratory distress with coarse breathing sound. That day, the infant was admitted and treated with intravenous cefotaxime 150 mg. After withholding oral intake for appropriate preoperative fasting, urgent bilateral probing with endoscopy was done. On endoscopy, huge bilateral congenital dacryocystoceles were found. Because of its huge size, the inferior surface of the cyst was touching the nasal floor, which made probe unable to perforate the wall of dacryocystocele. Therefore, an endoscopy-assisted marsupialization of dacryocystoceles and bicanalicular silicone intubation were performed. Both swellings and erythema subsided within 48 hours postoperatively, and the patient was discharged after 72 hours from treatment.

Congenital dacryocystocele: comparative findings of dacryoendoscopy and histopathology in a patient.

A full-term baby girl showed a bluish mass at birth in the right medial canthal area. She later demonstrated dacryocystitis and cellulitis. Although probing was performed, it was unsuccessful, and the dacryocystitis and cellulitis worsened. Computed tomography showed a dilated lacrimal sac, an enlarged nasolacrimal canal and a nasal cyst. Topical and intravenous systemic antibiotics were then started, and the symptoms partially subsided. Surgery was performed under general anesthesia with endoscopic assistance, under which cystic distention was visualized beneath the inferior turbinate. A dacryoendoscope showed injection and hemorrhages on the inner wall of the cyst. Marsupialization of the cyst was performed. Histopathologic examination showed submucosal tissue including fibrous thickening with infiltration of mononuclear leukocytes. The patient remained symptom free 6 months thereafter. Dacryoendoscopy for a congenital dacryocystocele demonstrated injection with hemorrhages, and this inflammatory sign corresponded to the histopathologic findings.

Bilateral congenital lacrimal fistula in a Brown Swiss bull.

A five-year-old Brown Swiss bull was referred to the Department of Farm Animals, University of Zurich, because of bilateral epiphora that was unresponsive to treatment. Clinical examination revealed a fistulous opening medial to the medial canthus of both eyes and mucopurulent discharge from both openings. Attempts to flush the nasolacrimal duct via the lacrimal points resulted in the fluid exiting via the fistulous opening. Retrograde flushing of the nasolacrimal duct from the nasolacrimal opening resulted in the flush fluid flowing back out the nasolacrimal opening. Bilateral lacrimal fistula medial to the medial canthus of the eye was diagnosed based on the findings. The same anomaly was diagnosed a year later in 4 related female animals referred to our Department for other reasons. Three of the cases were sired by the bull described above and one was sired by his half-brother. Therefore, an autosomal recessive mode of inheritance of this anomaly was assumed. Clinical, epidemiological and molecular studies of the offspring of both bulls are underway to further investigate this anomaly.

Complex choristoma of the lacrimal caruncle: a case report of an unusual congenital tumor with clinical and histopathological classification.

Rare congenital tumors can be localized in the peribulbar area. Here we report an unusual case presented in a 3-year-old child with a history of a congenital tumor in the lacrimal caruncle of the right eye, associated with epiphora and constant discomfort. A surgical resection was performed, and the final histopathological diagnosis was lacrimal caruncle complex choristoma. Choristomas are growths of apparently normal tissue in an abnormal location, which can be situated anywhere in the body, including ocular and peribulbar structures. These almost unknown congenital tumors constitute the most common conjunctival tumors in children and can be interpreted clinically as different lesions, which are only differentiated through precise histopathological analysis.

Unilateral lacrimal fistula in a patient with uterus didelphys and renal agenesis.

A 30-year-old female patient presented to our clinic because of lacrimation from an orifice close to the left lower eyelid. Ocular examinations and analyses revealed uterus didelphys and unilateral renal agenesis associated with a left lacrimal fistula. The patient underwent fistulectomy and external dacryocystorhinostomy. We decided to report on this patient owing to the unusual concurrent systemic abnormalities.

Case report: Congenital dacryocystocele and dacryocystitis.

Congenital dacryocystocele is a uncommon type of nasolacrimal duct obstruction. Differential diagnosis for masses in the medial canthal region of a newborn include encephalocele, hemangioma, nasal glioma, and dermoid cyst. Because of the risk of becoming infected (acute dacryocystitis) and potentially lethal due to septicemia, aggressive management, including admission for intravenous antibiotics and surgical removal, is now advocated by many pediatric ophthalmologists if the cyst cannot be decompressed. Because of the commonly associated nasal cyst, infants with nasolacrimal dacryocyctocele may also experience respiratory distress especially when breast-feeding. The following case of dacryocystocele, which had progressed to dacryocystitis, was misdiagnosed as an infantile hemangioma. It is important to diagnose this entity quickly and refer for appropriate antibiotic and surgical management to avoid more serious sequelae of sepsis and possible death.