Clinical features of strabismus and nystagmus in bilateral congenital cataracts

AIM：To evaluate the prevalence,clinical features,and the factors affecting onset of strabismus and nystagmus in patients with bilateral congenital cataracts.METHODS：This study evaluated 116 eyes of 58 patients who underwent lens removal for the treatment of bilateral congenital cataracts between January 1999 and January 2011.The presence and type of strabismus and nystagmus were determined before and after surgery.Type of strabismus and final visual acuity were compared in patients with and without nystagmus.Patients were divided into three groups（orthotropia/orthotropia,orthotropia/strabismus,and strabismus/strabismus） according to their preoperative and postoperative ocular alignment.Age at cataract surgery and associations of nystagmus and primary intraocular lens（IOL） implantation with strabismus were analyzed.RESULTS：Six patients（10.3%） had strabismus preoperatively and an additional 11（19.0%） developed postoperative strabismus.Exotropia was more common than esotropia both preoperatively and postoperatively.Eighteen patients（31.0%） had postoperative nystagmus,with sensory nystagmus being the most common type.Of the 18 patients with nystagmus,10 had strabismus,with exotropia being more common than esotropia.Postoperative visual acuity was poor in patients with nystagmus.Age at cataract surgery and rate of primary IOL implantation were significantly lower,and postoperative nystagmus was more common,in the orthotropia/strabismus group than in the other two groups.CONCLUSION：Exotropia and sensory nystagmus are common in patients with bilateral congenital cataracts.Age at cataract surgery and rate of IOL implantation are lowerand nystagmus more common in patients with postoperative onset of strabismus.Nystagmus is associated with poor visual prognosis.

Spectral-domain optical coherence tomography in patients with congenital nystagmus

AIM: To study macular features in patients with congenital nystagmus and to assess the utility of spectral-domain optical coherence tomography (SD-OCT) in nystagmus. METHODS: The macular areas of 51 outpatients with congenital nystagmus were examined using SD-OCT. Morphological changes in the retinal layers of the macular area were analysed. RESULTS: Macular images were successfully obtained with SD-OCT from 50 (98%) patients. Patients with ocular albinism mainly have macular hypoplasia, abnormal foveal depression, and increased foveal thickness with persistence of an inner nuclear layer, an inner plexiform layer, a ganglion cell layer and a nerve fiber layer. Macular morphology similar to albinism was observed in three patients with idiopathic macular hypoplasia. The OCT findings of cone dystrophy included unclear, disrupted or invisible photoreceptor outer segment/inner segment in the fovea; fusion, thickening and uneven reflection of the outer segment/inner segment with external limiting membrane. Some patients with congenital idiopathic nystagmus showed normal macular morphology and structure, and others showed indistinct macular external limiting membrane reflection. CONCLUSION: SD-OCT is an effective and reliable method to detect the macular morphology of congenital nystagmus patients. This technique has diagnostic value in particular for patients with macular hypoplasia and cone cell dystrophy with no distinct abnormality on fundoscopy.

A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

Dear Editor,I am Dr.Ungsoo Samuel Kim.from Kim＇s Eye Hospital,Konyang University,Seoul,Korea.I write to present a novel mutation of GPR143 in Korean patients with X-linked congenital nystagmus by using exome sequencing.Congenital nystagmus is an inherited ocular disorder that can occur as an X-linked condition.

Benign paroxysmal positional vertigo with congenital nystagmus: A case report

BACKGROUND Benign paroxysmal positional vertigo(BPPV)is a form of temporary vertigo induced by moving the head to a specific position.It is a self-limited,peripheral,vestibular disease and can be divided into primary and secondary forms.Congenital nystagmus(CN),an involuntary,rhythmic,binocular-symmetry,conjugated eye movement,is found at birth or within 3 mo of birth.According to the pathogenesis,CN can be divided into sensory-defect nystagmus and motordefect nystagmus.The coexistence of BPPV and CN is rarely seen in the clinic.CASE SUMMARY A 62-year-old woman presented to our clinic complaining of a 15-d history of recurrent positional vertigo.The vertigo lasting less than 1 min occurred when she turned over,sometimes accompanied by nausea and vomiting.Both the patient and her father had CN.Her spontaneous nystagmus was horizontal to right;however,the gaze test revealed variable horizontal nystagmus with the same degree when the eyes moved.The patient’s Dix-Hallpike test was normal,except for persistent nystagmus,and the roll test showed severe variable horizontal nystagmus,which lasted for about 20 s in the same direction as her head movement to the right and left,although the right-side nystagmus was stronger than the left-side.Since these symptoms were accompanied by nausea,she was diagnosed with BPPV with CN and treated by manual reduction.CONCLUSION Though rare,if BPPV with CN is correctly identified and diagnosed,reduction treatment is comparably effective to other vertigo types.

Stereopsis Disorders in Patients with Congenital Nystagmus

Purpose: To investigate the stereopsis functions in the cases of congenital nystagmus (CN) and determine the relations between nystagmus, visual acuity (VA) and stereoacuity (SA).Methods: The random-dot stereograms was used to examine the patients' SA, crossed and uncrossed disparity. The oscillation types of the eyeballs were determined under the naked eyes cooperating with the electronystagmorgraphy ( ENG) examination. VA was measured at 5m and 30cm with distance and near International Standard Charts. The patient was permitted to see the target with his compensatary head posture.Results: Of the 57 patients tested, only 8 cases have normal stereopsis including normal SA,crossed and uncrossed disparity, which are all the jerk nystagmus. Forty-one have abnormal SA including 19 stereoblind, 18 abnormal stereopsis and 4 abnormal SA only. Serious damages of stereopsis exist in most of the pendular and more than half of the jerk nystagmus. The relations between stereopsis and VA are that (1)the better the

Prenatal Diagnosis of an Apically Located Congenital Left Ventricular Aneurysm: A Rare Case

Congenital ventricular aneurysm is a very rare cardiac anomaly.A diagnosis can be made during the prenatal period using fetal echocardiography.This study presents a very rare apically located left ventricular aneurysm case,and the relevant literature was reviewed and discussed.In this case,a 35-year-old,gravida 2,parity 1 preg-nant woman at 24 weeks of gestation,displayed a wide aneurysmal image in the left ventricular apical wall on fetal echocardiography.There was a 1.79 mm muscular ventricular septal defect at the apical region of the interven-tricular septum.In the course of the color Doppler ultrasonography examination,an aberrantfibrous band within the left ventricle and consequent turbulentflow during systole were observed.The baby,born via cesarean section at 37 weeks of gestation,is now in its postnatal seventh month.However,during echocardiographic follow-ups,changes have been observed,including mild to moderate mitral insufficiency and a decrease in systolic function.Despite thesefindings,the clinical condition remains asymptomatic.It is of great importance to use a multidis-ciplinary approach in managing these rare cases that could lead to potential adverse outcomes during the antena-tal or postnatal periods.

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed consent.Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls.Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction(PCR) products.Results:We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B,and a previously reported splicing mutation c.782G>C(p.R261G) in family A.The mutations were detected in patients and female carriers,while they were absent in other relatives or in the 100 normal controls.Conclusions:Our results expand the spectrum of FRMD7 mutations in association with XLICN,and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

Extra Renal Rhabdoid Tumor: A Rare Cause of Congenital Soft Tissue Tumor

Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.

Congenital Hernia of the Diaphragmatic Dome with Neonatal Revelation, Experience from the Neonatology and Neonatal Intensive Care Unit at the University Hospital Center of Oujda

Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.

ValueofDigitalX—RayPhotographyinDiagnosisofCongenitalHeartDisease

目的探讨数字化X线摄影在先天性心脏病诊断中的应用价值。方法收集我院2009-01-01—10-31经数字化X线摄影检查阳性并经临床随访或手术证实的先天性心脏病患者97例,对其临床及影像学资料进行回顾性分析。结果 97例患者中,房间隔缺损46例（47.4%）,动脉导管未闭17例（17.5%）,室间隔缺损13例（13.4%）,法洛四联症5例（5.2%）,肺动脉瓣狭窄3例（3.1%）,镜面右位心4例（4.1%）,右位主动脉弓7例（7.2%）,其他复杂畸形2例（2.1%）。X线表现为：肺血增多、肺血减少及心影形态失常。结论数字化X线摄影准备简单、安全、快捷,禁忌证少,整体感强,同时还是术后随访的重要检查手段,目前仍然能够为先天性心脏病的诊断提供独特和有价值的信息。

Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung （CCAM）. Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CC,4M over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01‰ （1/11 124） before 28 gestation weeks. There were 1 case of type Ⅰ （8%）, 2 cases of type Ⅱ （17%） and 9 cases of type Ⅲ （75%）. Nine pregnancies were terminated and 2 cases were confirmed by pathology. Three neonates were alive and without any symptom now. Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination offetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

Usefulness of prenatal magnetic resonance imaging in differential diagnosis of fetal congenital cystic adenomatoid malformation and bronchopulmonary sequestration

BACKGROUND Congenital cystic adenomatoid malformation(CCAM)and bronchopulmonary sequestration(BPS)are the most common lung diseases in fetuses.There are differences in the prognosis and treatment of CCAM and BPS,and the clinical diagnosis and treatment plan is usually prepared prior to birth.Therefore,it is quite necessary to make a clear diagnosis before delivery.CCAM and BPS have similar imaging features,and the differentiation mainly relies on the difference in supply vessels.However,it is hard to distinguish them due to invisible supplying vessels on some images.AIM To explore the application value of magnetic resonance imaging(MRI)in the differential diagnosis of fetal CCAM and BPS.METHODS Data analysis for 32 fetuses with CCAM and 14 with BPS diagnosed by prenatal MRI at Huzhou Maternal and Child Health Care Hospital and Anhui Provincial Children’s Hospital from January 2017 to January 2020 was performed to observe the source blood vessels of lesions and their direction.Pathological confirmation was completed through CT examination and/or operations after birth.RESULTS After birth,31 cases after birth were confirmed to be CCAM,and 15 were confirmed to be BPS.The CCAM group consisted of 21 macrocystic cases and 10 microcystic cases.In 18 cases,blood vessels were visible in lesions.Blood supply of the pulmonary artery could be traced in eight cases,and in 10 cases,only vessels running from the midline to the lateral down direction were observed.No lesions were found in four macrocystic cases and one microcystic case with CCAM through CT after birth;two were misdiagnosed by MRI,and three were misdiagnosed by prenatal ultrasonography.The BPS group consisted of 12 intralobar cases and three extralobar cases.Blood vessels were visible in lesions of nine cases,in four of which,the systemic circulation blood supply could be traced,and in five of which,only vessels running from the midline to the lateral up direction were observed.Three were misdiagnosed by MRI,and four were misdiagnosed by prenatal ultrasonography.CONCLUSION CCAM and BPS can be clearly diagnosed based on the origin of blood vessels,and correct diagnosis can be made according to the difference in the direction of the blood vessels,but it is hard distinguish microcystic CCAM and BPS without supplying vessels.In some CCAM cases,mainly the macrocystic ones,the lesions may disappear after birth.

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy:A case report

BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding.

A case of 9p deletion syndrome with congenital infantile glaucoma,effective method of diagnosis,and treatment

Dear Editor,I am Dr.Jia X from the Department of Ophthalmology,Second Xiangya Hospital,Central South University,Changsha,China.I write to present a rare case report of 9p deletion syndrome with congenital infantile glaucoma in an infant,accompanying with an effective method of both diagnosis and treatment.

The Difficulties of Congenital Syphilis Diagnosis about 3 Cases at Libreville, Gabon

First described embryo fetopathy, congenital syphilis remains a public health problem mostly in developing countries. The diagnosis mainly based on bacteriological and immunological evidence of mother-child couple is not always easy, as it is shown in our three clinical cases. Those three clinical observations demonstrate the difficulties encountered in the diagnosis of congenital syphilis in our country where only the TPHA (Treponema Pallidum Haemaglutination Assay) and VDRL (Venereal Disease Research Laboratory) tests are the only ones to be routinely carried out. Actually, these tests can be negative at the earliest stage of the syphilis or in case of zonal phenomenon. In addition, maternal antibodies could be found in child blood, even if the baby is in good health. At last, the child could have been contaminated belatedly while tests were negative at the third month of pregnancy. Congenital syphilis still exists in our developing countries and, in order to better manage this pathology, a proposition of an efficient algorithm is submitted.

Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report

BACKGROUND Ullrich congenital muscular dystrophy(UCMD)is one of the collagen-VI-related myopathies caused by mutations of COL6A1,COL6A2,and COL6A3 genes.Affected individuals are characterized by muscle weakness,proximal joint contracture,distal joint hyperlaxity,and progressive respiratory failure.There is currently no cure for UCMD.Here,we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.CASE SUMMARY A 3-year-old boy,his 4-year-old brother,their parents,and a 20-wk-old fetus in the mother’s womb were included in the study.The brothers had the typical manifestations of the early-severe subtype:A delayed motor milestone(never walking independently),torticollis,scoliosis,proximal joint contracture,distal joint hyperextension,right hip joint dislocation,and calcaneal protuberance.Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene(c.1353_c.1354insC,p.Arg453Profs-Ter42/c.2105G>A,p.Trp702Ter).The absence of collagen VI staining in the younger brother’s muscle was identified accurately.Genetic counseling and prenatal diagnosis were crucial for the family,as the autosomal recessive genetic disease affected a quarter of the patient’s siblings.The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2,confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats.After a painful psychological struggle,the parents finally decided to terminate the pregnancy.CONCLUSION We report a Chinese family suffering from UCMD.By clarifying the COL6A2 mutations in the probands,the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.

Pregnancy and Congenital Uterine Anomalies: Case Series

Background: Congenital Uterine Anomalies are malformations of the Uterus which occur during embryonic life and result from the abnormal formation, fusion or resorption of the Mullerian ducts. Most of them are asymptomatic and diagnosis is done incidentally or during examinations performed for other purposes. We report three cases of women with pregnancies in malformed uteri. Aim: To depict the diagnostic challenges and therapeutic aspects of management of pregnancies in congenitally malformed Uteri. Case Presentation: The first case was a 22-year-old student who came to consult for a second opinion on the management of an ectopic pregnancy. A 2D Ultrasound done prior revealed an ectopic pregnancy but failed to specify its location in a rudimentary uterine horn. Management with a Multi-dose Methotrexate regimen was initiated but progress was not favorable. She came to us for a second opinion on management. Diagnostic laparoscopy was done and revealed an ectopic pregnancy in a rudimentary uterine horn. This was confirmed by histopathology. Management consisted of resection of the rudimentary horn and a right total salpingectomy. The second case was that of a woman who presented with spotting in early pregnancy. An Obstetric 2D ultrasound done revealed a bicornuate Uterus with a Gestational sac in one horn. She was placed on progesterone supplementation for 2 weeks, with regular antenatal contacts. She had an elective cesarean section at 39 weeks. Surgery revealed a complete Bicornuate Uterus. The post-operative period was uneventful with no complications. The third case was that of a woman with a past history of five successive spontaneous abortions, who presented with spotting at about 8 weeks of gestation. An Obstetric Ultrasound done revealed a Bicornuate Uterus and an embryo in one cornus. She was admitted, given her poor obstetric history, for about 14 days and placed on progesterone supplementation till 20 weeks of gestation. Antenatal contacts were regular and she had an emergency cesarean section at 36 weeks. There were no complications in the post operative period. Conclusion: The high degree of diagnostic accuracy makes 3D ultrasound the diagnostic modality of choice. Nevertheless, 2D and Hysterosalpingography can be used as well. Management of pregnancies in women with congenital Uterine anomalies varies per case as presenting symptoms and outcomes with pregnancies are not alike. When diagnosed out of pregnancy, and depending on the type of anomaly, surgical management may be recommended.

Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

AIM:To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS:The medical records of 122 patients,aged1.5mo to 9y,who had undergone cataract extraction with primary intraocular lens implantation between January1993 and August 2011 were reviewed.Fourteen patients(17 eyes)with strabismus before cataract surgery were excluded.Patients were divided into those with congenital bilateral cataracts(64 patients,128 eyes)and those with unilateral cataracts(44 patients,44 eyes).The associations between the development of strabismus and age at cataract surgery,pre-and post-cataract extraction corrected distance visual acuity(CDVA),interocular CDVA difference,nystagmus,surgical method,and secondary cataract were evaluated.RESULTS:Factors significantly associated with the development of strabismus included age at cataract surgery(≤1y),preoperative mean CDVA≤20/100,presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference】20/70 in the unilateral group.Postoperative CDVA≤20/100 and preservation of posterior capsule,and presence of secondary cataract were significant factors in both groups.CONCLUSION:Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus,especially when they underwent surgery at age≤1y,and they have nystagmus,large postoperative interocular CDVA difference,poor preoperative and postoperative CDVA,preservation of the posterior capsule,or secondary cataract.

Novel variant syndrome associated with congenital hepatic fibrosis

Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome(BBS), the absence of some major criteria of BBS(polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.

Congenital bronchoesophageal fistula in an adult: A case report

Bronchoesophageal fistulas are usually diagnosed in the neonatal period. As such, the condition is rare in adults. We present a case of a congenital bronchoesophageal fistula in a 62-year-old man with the complaint of severe bouts of cough and choking after swallowing liquid. His workup included a barium esophagogram that revealed a fistula between the esophagus and a right lower lobe bronchus. The diagnosis should be considered in certain individuals with suggestive symptomatology and unexplained respiratory pathology. The fistula was divided and resected, The patient had an uneventful recovery.