To investigate whether neonatal dacryocystoceles and dacryocystitis are associated with nasolacrimal duct cysts, and to report the outcomes of treatment of these disorders.
This was a retrospective medical record review of two groups of infants with nasolacrimal duct (NLD) obstruction. The first group had dacryocystoceles with or without dacryocystitis. The second group had NLD obstruction with symptoms severe enough to require early NLD probing. All of the patients underwent NLD probing and nasal endoscopy. When present, NLD cysts were removed.
In the first group, 33 infants had dacryocystoceles. Acute dacryocystitis was present in 16 patients, 12 had noninfected dacryocystoceles that did not resolve, and 5 had dacryocystoceles that resolved but severe symptoms persisted. All of the patients had NLD cysts that were surgically removed. The symptoms resolved after surgery in 31 patients (94%). In the second group, 27 infants less than 6 months old without dacryocystoceles underwent early NLD probing and endoscopy due to severity of symptoms. Twelve (44%) of these patients had NLD cysts. The symptoms resolved in 11 (92%) of 12 patients following NLD probing and cyst removal.
Neonatal dacryocystoceles are almost always associated with NLD cysts. The success rate of NLD probing and endoscopic cyst removal in these patients is excellent. Nasolacrimal duct cysts also are present in many young infants with severe symptoms of NLD obstruction. Nasal endoscopy is an important adjunct to the management of these infants.
Congenital amniontocele also known as congenital dacryocystocele is an uncommon variant of a very common condition (Naso-Lacrimal Duct Obstruction, NLDO) that affects newborn babies. The congenital amniontocele causes obstruction of the lacrimal drainage system creating a cystic swelling of the lacrimal sac. It usually presents at birth or soon after birth, as a bluish swelling, below and nasal to the medial canthus. If the congenital amniontocele is associated with intranasal cystic swelling of the NLD and if it is large and bilateral it can cause severe respiratory distress particularly during milk feeding.
We report a case of 24 days old female newborn baby who were presented to us from pediatric clinic of Rustaq Hospital with bluish cystic swelling below the left medial canthus soon after the birth.
Congenital amniontocele is relatively rare and the literature describes a variable natural course of these lesions with resultant controversy in their management. Usually congenital amniontocele resolves spontaneously with conservative management, and if not, dacryocystitis might develop. Treatment of congenital amniontocele comprises digital sac massaging and early probing the lacrimal system,8 or some times, intranasal surgery in the form of marsupialization of the intranasal cyst, this is usually performed endoscopically.7 We report successful conservative management in our case and recommend this with oral and topical antibiotics with lacrimal sac massage for 7 to 10 days and, if there is no response, to consider surgical intervention in the form of lacrimal probing.
Congenital amniontocele; dacryocystocele; lacrimal probing; antibiotics; conservative
Herein we report our experience with a simple technique for reducing the rate of silicone tube extrusion after nasolacrimal duct (NLD) intubation for congenital NLD obstruction. Medical records of children older than 2 years, with or without history of failed probing, who had undergone NLD intubation with a Crawford silicone tube over a period of 4 years were reviewed. In all subjects, one end of the Crawford tube was passed through a piece of scalp vein tubing followed by applying one or two knots. All Crawford tubes were removed after 3 months. Main outcome measures included complications such as tube extrusion, nasal discharge, crust formation and pyogenic granuloma formation. Fifty-seven patients, including 49 unilateral and 8 bilateral cases with mean age of 3.8±1.6 (range, 2 to 11.5) years were operated. No complications such as tube dislodgement, significant nasal discharge, crust or pyogenic granuloma formation occurred prior to Crawford tube removal. All silicone tubes were successfully removed from the nasal cavity. In conclusion, passing one end of the Crawford tube through a small piece of scalp vein tubing before knotting it in the nasal cavity seems to decrease the rate of tube extrusion which is the most common complication following NLD intubation in children.
Nasolacrimal Duct Intubation; Silicone Tube Extrusion; Crawford Tube; Nasolacrimal Duct Obstruction
Rabbits have been proposed as a model organism for the human lacrimal apparatus (LA), including the nasolacrimal duct (NLD), based principally on comparative studies of adult morphology; however, little is known about its development. The NLD first appears as an incomplete primordium in the subcutaneous region of the primordial eyelid and subsequently elongates to reach the naris. One posterior and three anterior orbital glands are present fetally although one of the anterior glands is soon lost. The NLD follows a tortuous path and passes through a bony canal consisting of lacrimal, maxilla, and maxilloturbinal bones at different regions. Although early developmental similarities exist to haplorhine primates, the narial opening of the NLD resembles strepsirrhines. This distinction, along with the ductal and glandular differences at the orbital end of the NLD, indicates that rabbits may be a poor model for LA drainage in primates, specifically humans.
A 44-year-old man presented with a history of chronic epiphora, discharge from the right eye, and a palpable mass in the medial canthal area. Irrigation of the lacrimal system revealed bloody discharge. Orbital magnetic resonance imaging (MRI) showed a well-defined heterogeneous enhanced mass filling the lacrimal sac and upper nasolacrimal duct (NLD). A wide excision and surgical biopsy were performed. Histopathology showed the tumor to be an exophytic Schneiderian papilloma with moderate to severe dysplasia. Three months later, the mass was found to be invading the nasal cavity through the NLD. Endoscopic histopathological evaluation confirmed that it was identical to the originally identified papilloma.
Lacrimal sac; Recurrent exophytic papilloma; Schneiderian papilloma
The most common site for localized forms of plasma cell neoplasms (extramedullary plasmacytoma; EMP) is the upper respiratory tract, including the oropharynx, nasal cavities, sinuses and larynx. A 50-year-old woman with a history of myeloma in complete remission after autologous stem cell transplantation complained of two weeks of epiphora of the left eye with subsequent diplopia, bloody nasal discharge and progressive swelling around the nasolacrimal sac. A solitary mass in the left sinonasal area, extending to the nasolacrimal duct (NLD) was detected on MRI, whose histopathological examination was consistent with plasmacytoma. Further clinical investigation ruled out multiple myeloma (MM). The patient underwent debulking surgery and adjuvant chemotherapy followed by local radiotherapy in an attempt to achieve complete response. Despite being a rare entity, EMP of the NLD should be considered in the differential diagnosis of epiphora and dacryocystitis. To our knowledge, this is the first case of a plasmacytoma of the NLD presenting as isolated extramedullary relapse of MM. The follow-up in EMPs should include appropriate imaging studies, a systemic workup to rule out MM.
Dacryocystitis; Multiple myeloma; Nasolacrimal duct; Plasmacytoma
Evaluation of the effect of different microorganisms on congenital nasolacrimal duct obstruction (CNLDO) tightness and whether probing or silastic intubation is likely to fail in a particular microorganism infection.
The culture and sensitivity results of lacrimal drainage system (LDS) discharge samples from patients with CNLDO were reviewed. Different microorganisms were correlated with the severity of nasolacrimal duct (NLD) obstruction observed during surgical intervention. The success rates of probing and silastic intubation as a primary procedure for each identifiable microorganism were documented. Statistical analysis was conducted to correlate the type of microorganism with the tightness of CNLDO and treatment failure.
Out of 181 specimens, 22 had no growth (12.1%). LDS with positive culture had 76.6% successful probing (n = 49) and 82.1% successful silastic intubation (n = 78). Gram-positive and Gram-negative species were almost equally detected. The most prevalent organisms were Streptococcus pneumoniae and Hemophilus influenzae (48.1% and 39.2%, respectively). Tight CNLDO was more prevalent in Serratia marcescens (n = 2; 100%) and Staphylococcus aureus (n = 4; 33.3%) infections with a 7.75 Odds ratio [95% confidence interval (CI), 1.67–34.63]. Staphylococcus aureus had 37.5% successful probing; however, success was achieved in all cases with silastic intubation. Serratia marcescens infections had 100% successful silastic intubation.
Microbiology study can predict tight CNLDO and helps in choosing the most successful treatment option. CNLDO with Staphylococcus infection and Serratia marcescens were likely to have tight NLD obstruction and silastic intubation had better outcomes.
Microbiology; Congenital; Nasolacrimal duct; Obstruction
The most common abnormality of the lacrimal drainage system is congenital or acquired nasolacrimal duct obstruction. The causes of acquired nasolacrimal duct obstruction may be primary or secondary. The secondary acquired obstructions may result from infection, inflammation, neoplasm, trauma or mechanical causes. The maxillary sinus cysts usually obstruct the nasolacrimal duct mechanically. Dentigerous cysts are one of the main types of maxillary cysts. These cysts are benign odontogenic cysts which are associated with the crowns of unerupted teeth. The clinical documentations of mechanical nasolacrimal duct obstructions due to a dentigerous cyst in the maxillary sinus are very rare in literature. In this case report, we describe a dentigerous cyst with a supernumerary tooth in the maxillary sinus in an 11-year-old male child causing an obstruction to the nasolacrimal duct. The case was successfully managed surgically by Caldwell Luc approach.
Caldwell Luc approach; dentigerous cyst; nasolacrimal duct
Both topical ocular and topical intranasal immunizations have been reported to stimulate the ocular mucosal immune system (OMIS) and the systemic immune system. Nasolacrimal ducts (NLDs) are the connecting bridges between the OMIS and nasal cavity-associated lymphoid tissue (NALT). These ducts drain topical ocularly administrated solutions into the inferior meatus of the nose to reach the NALT. Inversely, NLDs also drain intranasally administrated solutions to the mucosal surface of the eye and thus the OMIS. This unique anatomical connection between the OMIS and NALT systems provoked us to test whether the OMIS and NALT are immunologically interdependent. In this report, we show that both topical ocular administration and topical intranasal administration of a mixture of immunodominant CD4+ T-cell epitope peptides from herpes simplex virus type 1 (HSV-1) glycoprotein D (gD) emulsified with the CpG2007 mucosal adjuvant are capable of inducing local (in conjunctiva) as well as systemic (in spleen) HSV-peptide-specific CD4+ T-cell responses. Interestingly, surgical closure of NLDs did not significantly alter local ocular mucosal CD4+ T-cell responses induced following topical ocular immunization but did significantly enhance systemic CD4+ T-cell responses (as measured by both T-cell proliferation and gamma interferon (IFN-γ) production; P < 0.005). In contrast, NLD closure significantly decreased ocular mucosal, but not systemic, CD4+ T-cell responses following intranasal administration of the same vaccine solution (P < 0.001). The study suggests that NALT and the OMIS are immunologically interconnected.
Congenital lacrimal fistulae are rare in Down syndrome and bilateral presentation is very unusual. It can be associated with nasolacrimal duct obstruction. We report a 3-year-old female with Down syndrome who presented with watering and discharge from both eyes and bilateral fistulous openings present inferonasal to the medial canthus. Upon examination, the lacrimal sac regurgitation test was positive on both sides. Our case report documents a distinctive case of bilateral congenital lacrimal fistulae in association with Down syndrome. It was managed successfully by primary fistulectomy and nasolacrimal duct probing.
Down Syndrome; Fistulectomy; Lacrimal Fistula; Nasolacrimal Duct
Five children were diagnosed with congenital dacryocystocele; in all cases, the cystic lesion was unilateral; age ranged from 7 to 60 days (mean 29 days). The mean ultrasonography diameter of the cyst, at the time of the diagnosis, was 11.51 mm. Topical and systemic antibiotics and massage were prescribed. One patient had no recurrence of the dacryocystocele but 4 showed no improvement with medical treatment; they were submitted to successful probing in the first months of life under general anaesthesia. Nasal endoscopy revealed a nasolacrimal cyst in one patient. True dacryocystocele is relatively rare: ultrasound is a simple, non-invasive method that can reliably distinguish dacryocystocele from other pathological conditions. Several reports have described a variable natural course of these lesions but there are controversial opinions regarding their management. Initially, we treated this congenital anomaly with digital massage, and topical and systemic antibiotics. Probing under general anaesthesia was performed in the event of dacryocystitis or lack of resolution after a short trial period with digital massage. Particular attention was paid to nasal bilateral endoscopy to exclude a nasal obstruction caused by cystic swelling of the naso-lacrimal duct. When performed, the probing procedure was successful in all patients.
Nasolacrimal duct; Dacryocystocele; Dacryocystitis; Nasolacrimal duct obstruction; Treatment
To report the results of late nasolacrimal duct probing in patients with congenital nasolacrimal duct obstruction (NLDO).
This retrospective study was performed on a consecutive series of patients with congenital NLDO who underwent late (after 15 months of age) nasolacrimal duct probing for the first time.
Over a period of five years, 158 patients including 75 (47.4%) male and 83 (52.6%) female subjects with mean age of 3±4.2 years (range, 15 months to 37 years) underwent initial probing for NLDO. Nasolacrimal duct probing was performed unilaterally in 78% and bilaterally in 22% of the patients. Success rate was 75% overall, 72% in unilateral cases and 83% in bilateral instances. Success rate was not correlated with age at intervention.
Nasolacrimal duct probing seems to be reasonably successful for treatment of congenital NLDO in patients older than 15 months who are seen for the first time. Silicone intubation or dacryocystorhinostomy should be reserved for refractory cases.
Lacrimal Duct Obstruction
Dacryocystorhinostomy (DCR) remains the surgery of choice for the treatment of epiphora secondary to nasolacrimal duct (NLD) obstruction. It involves creating a direct soft‐tissue anastomosis between the lacrimal sac and the ipsilateral nasal cavity, via an osteotomy created by removal of the floor of the lacrimal fossa and surrounding bone. Successful surgery clearly requires the presence of a nasal space and absence of this poses a surgical challenge.
We describe three patients with absent nasal cavity on the side of lacrimal obstruction, where DCR was performed by the creation of an anastomosis between the lacrimal sac and the contralateral nasal space.
The purpose of this study was to evaluate the role of probing in congenital nasolacrimal duct obstruction in children age 2 years and older and to establish factors predictive of the outcome.
Materials and Methods:
A prospective study was conducted on consecutive patients older than 24 months with congenital nasolacrimal duct obstruction. All patients were treated with a simple nasolacrimal duct probing as primary treatment. Outcome measures included an ophthalmologic examination plus a parental history of residual symptoms at one and 6 months after surgery.
A total of 82 children with a mean age of 34.5 months (range, 24 months to 60 months) underwent nasolacrimal duct probing. The complete response rate was 54%. Partial response and failure were observed in 25% and 20.8% of the eyes, respectively. Bilateral obstruction was associated with failure of probing (P = 0.007, Odds Ratio: 5.76). However, age older than 36 months was not associated with the failure rate.
Primary probing maintains a high success rate without any age related decline in congenital nasolacrimal duct obstruction.
Congenital Nasolacrimal Obstruction; Probing; Epiphora
To compare the outcome of balloon catheter dilation and nasolacrimal intubation as treatments for congenital nasolacrimal duct obstruction (NLDO) after a failed probing in children less than 4 years of age
We conducted a prospective, non-randomized multicenter study which enrolled 159 children aged 6 to <48 months who had a history of a single failed nasolacrimal duct probing and had at least one of the following clinical signs of NLDO present: epiphora, mucous discharge and/or increased tear lake. One hundred ninety-nine eyes underwent either balloon catheter nasolacrimal duct dilation or nasolacrimal duct intubation. Treatment success was defined as no epiphora, mucous discharge or increased tear lake present at the outcome visit six months after surgery.
Treatment success was reported in 65 of 84 eyes (77%, 95% CI = 65% to 85%) in the balloon group compared with 72 of 88 eyes (84%, 95% CI = 74% to 91%) eyes in the intubation group (risk ratio for success for intubation vs. balloon = 1.08, 95% CI = 0.95 to 1.22).
Balloon catheter dilation and nasolacrimal duct intubation each alleviate the clinical signs of persistent nasolacrimal duct obstruction in a similar proportion of patients.
In the present report, a case of 19 year-old monozygotic twin brothers with similar tooth agenesis and impacted primary teeth is presented. Both twins (HDH, DHH) had agenesis of ten and eleven teeth (respectively), third molars excluded, consistent with oligodontia and both had four impacted primary teeth and the permanent successors of all these primary teeth were congenitally missing. The occurrence of similarly located tooth agenesis and primary impacted teeth in monozygotic twins may suggest the influence of genetic factors in their etiology. In addition, primary tooth impaction may be related to congenitally missing tooth.
Monozygotic twins; Hypodontia; Oligodontia; Impaction
Disease patterns in twins may show the presence of genetic or of environmental causes. Two arguments of inference have been used. Discordances between monozygotic twins have been taken to indicate the presence of environmental determinants; and high levels of concordance in monozygotic (MZ) pairs compared with dizygotic (DZ) pairs have been taken to indicate the presence of genetic causes. Neither argument is rigorous and, at this level, neither is quantitative.
An investigator cannot always establish the zygosity of individual twin pairs, and many have therefore used indirect arguments, based upon Weinberg's differential method.1 Thus, the number of MZ pairs in a randomly selected sample of twin pairs may be estimated by subtracting the number of unlike-sexed (U) from the number of like-sexed pairs (L). The proportion of MZ pairs is then (L - U)/(L + U), and of DZ pairs 2U/(L + U). Cannings2 showed that in twins which are randomly selected, and when the proportion of males is 0·5, these formulae are maximum-likelihood estimators; also that their validity is unaffected by differential prenatal viability of MZ and DZ twins.
However, in the context of investigating aetiologies we need to ask whether these relationships remain true in twins which are not selected randomly, but because a particular disease occurred in one or both of the pair. This distinction has not always been clearly made in the past. It turns out to be crucial.
Smith,3 for example, was led to an erroneous conclusion with respect to the aetiology of Down's disease. This he later recognised,4 and showed that the formulation of a correct method for estimating the proportions of the MZ and DZ twins depended upon the prior choice of a model of pathogenesis. It was necessary to decide in advance whether the disease-determining events occurred before or after the point of MZ cleavage. Distortions of the Weinberg rule also occur in sex-linked recessive transmission where the U:L ratio among DZ pairs is other than 1:1; it is this ratio upon which the validity of the Weinberg method chiefly depends. For the investigator examining diseases the causes of which are not known, the necessity to make assumptions about the aetiology of the disease before he even begins his analysis introduces a disturbing circularity. These considerations provide the background to this paper.
Patients requiring assisted reproductive techniques may have a higher rate of congenital malformations. Some rare complications of pregnancy might be related to such abnormalities. Torsions of the umbilical cord resulting in fetal death have previously been described exclusively in pregnancies following spontaneous conception.
The case of 37 year old gravida I, para O woman with a twin pregnancy after intracytoplasmatic sperm injection and intrauterine death of one twin at approximately 30 weeks’ gestation is presented. The surviving twin was delivered by cesarean section at 31 weeks after spontaneous onset of labor and recurrent fetal bradycardia. The intraoperative situs showed that the demised twin had suffered from multiple umbilical cord torsions leading to intrauterine hypoperfusion.
Umbilical torsion leading to fetal death might represent a previously unrecognized complication in women requiring assisted reproductive techniques, but this problem is known to occur in pregnancies achieved by natural methods.
Intracytoplasmatic sperm injection; Fetal hypoxia; Multiple pregnancy; Stillbirth
Ectopic eruption of teeth in non-dental sites is a rare phenomenon and can present in a variety of ways such as chronic or recurrent sinusitis, sepsis, nasolacrimal duct obstruction, headaches, ostiomeatal complex disease and facial numbness. However, presentation of such patients with recurrent haemoptysis has not been described in the literature so far. We have described a case of an ectopic, supernumerary molar tooth in the maxillary antrum in a patient who initially presented with haemoptysis.
A 45-year-old male presented with a 2-month history of episodic haemoptysis. A pedunculated growth from the inferior nasal turbinate was seen with fibre-optic visualization. Although the patient was empirically started on antibiotic and anti-allergic therapy, there was no improvement after a few weeks and the patient had recurrent episodes of haemoptysis. Fibre-optic visualization was repeated showing bilateral osteomeatal erythema. Computed tomography scan of the paranasal sinuses demonstrated complete opacification of the left maxillary antrum along with a focal area of density comparable to bone. An ectopic, supernumerary molar tooth was found in the left maxillary antrum on endoscopic examination and subsequently removed. In addition, copious purulent discharge was seen. Post-operatively, the patient was treated with a 10-day course of oral amoxicillin-clavulanate. On follow-up, he reported resolution of symptoms.
Recurrent haemoptysis has not been described as a presentation for a supernumerary, ectopic tooth in literature before. We recommend that in patients with sinusitis-type of opacification of maxillary antrum and whose condition is refractory to conventional medical treatment, consideration should be given to the investigation of possible underlying anomalies as the cause of such symptoms. Presence of foreign bodies and ectopic teeth in paranasal sinuses can be reliably excluded with the use of appropriate radiological imaging and endoscopic examination.
Twin reversed arterial perfusion (TRAP) sequence is a rare complication of multiple pregnancy caused by defects in early embryogenesis. The pump twin supplies the acardiac recipient twin with blood, and although the pump twin is usually structurally normal, congenital anomalies have sometimes been reported. We report a unique case of twin reversed arterial perfusion sequence with a prenatal diagnosis of VACTERL association in the surviving pump twin.
A 24-year-old Caucasian woman presented at 11 weeks' gestation with a monochorionic, monoamniotic twin pregnancy. A reversed arterial flow was noted on a Doppler imaging study coming from the larger, apparently normal twin to the smaller, grossly abnormal twin, and a diagnosis of twin reversed arterial perfusion sequence was made. Cardiac activity was undetectable in the recipient twin by 16 weeks' gestation. Further detailed assessment at 18 weeks' gestation revealed multiple congenital anomalies of the surviving pump twin, in keeping with a diagnosis of VACTERL association. A live infant girl was delivered at 39 weeks by elective cesarean section. She underwent extensive surgery with subsequent normal development at the age of two years.
The co-existence of two rare and complex conditions in this unique case raises interesting questions about the role of early defects in embryogenesis and their subsequent effects on fetal development. This case also highlights the importance of prenatal diagnosis of major congenital anomalies to the plan treatment, reduce morbidity and aid the survival of affected children.
To report the outcome of nasolacrimal duct probing as the primary treatment of congenital nasolacrimal duct obstruction (NLDO) in children less than 4 years of age
Prospective, non-randomized observational multicenter study (44 sites)
Nine hundred fifty-five eyes of 718 children aged 6 to <48 months at the time of surgery, with no prior nasolacrimal surgical procedure, and with at least one of the following clinical signs of NLDO present: epiphora, mucous discharge and/or increased tear lake.
Probing of the nasolacrimal system of the affected eye
Main outcome measure
Treatment success was defined as no epiphora, mucous discharge or increased tear lake present at the outcome visit one month after surgery.
The proportion of eyes treated successfully was 78% (95% confidence interval (CI) = 75% to 81%) overall and was 78% for the 421 eyes in children aged 6 to <12 months, 79% for the 421 eyes in children aged 12 to <24 months, 79% for the 37 eyes in children aged 24 to <36 months, and 56% for the 11 eyes in children aged 36 to <48 months. The probability of treatment success was lower in eyes operated in an office setting compared with in a surgical facility (adjusted relative risk 0.88 [95% CI = 0.80 to 0.96]), with success reported in 72% (95% CI = 66% to 78%) of probings performed in an office and in 80% (95% CI = 77% to 84%) of probings performed in a facility. The probability of treatment success was also lower in eyes of patients with bilateral disease (adjusted relative risk 0.88 [95% CI = 0.81 to 0.95]).
In children 6 to <36 months of age, probing is a successful primary treatment of NLDO in about three-fourths of cases with no decline in treatment success with increasing age. The study enrolled too few children aged 36–<48 months to allow a conclusion regarding the probability of treatment success in this age group.
To report the outcome of nasolacrimal duct balloon catheter dilation as the primary treatment of congenital nasolacrimal duct obstruction (NLDO) in children less than 4 years of age.
102 children (151 eyes) aged 12 to <48 months (mean 23 months) at the time of surgery, with no prior nasolacrimal surgical procedure, and with at least one of the following clinical signs of NLDO present, epiphora, mucous discharge and/or increased tear lake, were enrolled in a prospective, non-randomized observational multicenter study (20 sites). All children received balloon catheter dilation of the nasolacrimal system of the affected eye(s).
Treatment success was defined as no epiphora, mucous discharge, or increased tear lake present at the outcome visit one month after surgery. The proportion of eyes treated successfully was 82% (95% confidence interval = 74% to 88%). The dye disappearance test at outcome was normal in 105 (73%), indeterminate in 15 (10%), and abnormal in 23 (16%) of the 143 eyes tested.
In children 12 to <48 months of age, balloon catheter dilation as a primary treatment of NLDO was successful in about 80% of cases. Because we did not perform a randomized trial with a comparison group, we are unable to determine how this procedure’s success rate compares with that of simple probing or nasolacrimal intubation in this age group.
Background. Assisted reproductive technology has been linked to the increased incidence of monozygotic twinning. It is of clinical importance due to the increased risk of complications in multiple pregnancies in general and in monozygotic twins in particular. Case. A 29-year-old female, nulligravida underwent her first IVF cycle. Three poor-quality cleavage stage embryos were transferred resulting in monochorionic triamniotic triplets and dichorionic diamniotic twins. Selective embryo reduction was performed at 12 weeks leaving dichorionic twins. The patient underwent emergency cesarean section due to preterm labor and nonreassuring fetal heart tracing at 30 weeks of gestation. Conclusion. Our case emphasizes that even embryos with significant morphological abnormalities should be considered viable and the possibility of simultaneous spontaneous embryo splitting must be factored into determining number of embryos to transfer.
The exact etiology of congenital scoliosis remains unknown as yet. It seems that its development may be influenced by both genetic predisposition and environmental factors, at varying degrees. International bibliography features few cases of monozygotic twins with congenital scoliosis. The aim of this study is to report a case in monozygotic twins and review the literature relating to the description of similar cases as well as the pathophysiological mechanism involved in its development.
Clinical examination and simple X-rays revealed scoliosis of differing degrees and types in male monozygotic twins with moderate mental retardation and dyslalia.
Congenital scoliosis identified in both twins. In the first, this was manifested as left thoracic scoliosis, with Cobb angle of 34 degrees while in the second as left thoracolumbar scoliosis with Cobb angle of 10 degrees. Both were found to suffer from incarcerated hemivertebrae.
According to both its clinical identification and severity and to its course, not only the genetic but the environmental factors seem to play a leading role in the appearance of the condition.
Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3rd week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report.
Conflict of interest:None declared.
Rubinstein-Taybi syndrome; monozygotic twins; congenital hyperthyroidism; thyroid hypoplasia