Prenatal Measurements of Congenital Lung Malformations: Can They Predict Postnatal Size?

INTRODUCTION: Prenatally diagnosed congenital lung malformations (CLMs) are monitored via ultrasound and measured by congenital pulmonary airway malformation volume ratios (CVRs) which can predict postnatal respiratory symptoms. This study compared CVR to postnatal lesion size to help guide prenatal counseling. METHODS: A retrospective chart review evaluated the prenatal imaging and postnatal outcomes for patients who were prenatally diagnosed with CLMs and had a postnatal computed tomography (CT) scan at one institution. RESULTS: Fifty-seven patients were included. Four had symptoms requiring urgent resection. The remaining were discharged and had clinic follow-up with CT scan to determine next steps: five had no identified lesions, eight had lesions whose diagnosis did not warrant an operation, and 40 had lesions whose diagnosis rendered size a factor in operative decision-making. Of these 40, 26/40 patients (65%) underwent elective resection (median maximum CVR 0.97; median lesion size 4 cm) and 14/40 patients (35%) were observed without resection (median maximum CVR 0.5; median lesion size 3 cm). There was a positive correlation between prenatal CVR and postnatal lesion size, with R-squared = 0.46. Maximum CVRs were better than last CVRs when predicting whether postnatal CT size would fall above or below our institution's level of recommended resection, with an area under the curve of 0.85 and a CVR cut-point of 0.61. CONCLUSIONS: For newborns with asymptomatic CLMs, higher maximum CVRs correlated with larger size on postnatal CT. A maximum CVR ≤0.6 was correlated with a smaller postnatal CT size that may be eligible for nonoperative management. While these results are not intended to recommend surgery based on higher CVRs alone, this information could potentially be used to reassure expectant parents whose babies' prenatal imaging demonstrate lower maximum CVRs.

Demographics of Anterior Chest Wall Deformity Patients: A Tertiary Children's Hospital Experience.

INTRODUCTION: Anterior chest wall deformities consist of abnormal development of the chest, with the most common congenital deformities being pectus excavatum (PE) and pectus carinatum (PC). Surgical series are common, but less research is present assessing the demographics of all who present for initial evaluation. The purpose of this study is to describe the patient characteristics of those who present for ambulatory surgical evaluation. METHODS: Data were collected from initial patient visits to an established multispecialty chest wall deformities program at a large Children's Hospital from 2017 to 2021. Variables assessed included primary diagnosis, age, sex, race/ethnicity, and whether surgical correction was performed. RESULTS: A total of 1510 children were evaluated: 50.0% (n = 755) with PE, 43.3% (n = 653) with PC, 2.7% (n = 41) with mixed chest wall deformities, 0.7% (n = 10) with Poland syndrome, 1.1% (n = 17) with Currarino-Silverman syndrome, and 2.3% (n = 34) with other anterior chest wall deformities. Males and females presented at mean age of 12.8 (4.2) and 10.9 (5.5) years, respectively (P = 0.001). White children represented 61.1% of the overall population while Hispanic children represented 26.3%. White, non-Hispanic children represented 61.9% and 71.5% and Hispanic children represented 26.0% and 26.3% of the PE and PC populations, respectively. CONCLUSIONS: Most patients seen in an urban chest wall deformities clinic were White, non-Hispanic; however, the proportion of other groups such as Hispanic and Asian is greater in this cohort than previously described. Further research is ongoing to ascertain the extent to which disease predisposition versus access to care play roles in this population.

Intraoperative Vertebral Artery Injury: Evaluation, Management, and Prevention.

Vertebral artery injury (VAI) is a serious and potentially life-threatening injury that is encountered with trauma to the cervical spine and less frequently during surgery. VAI can occur during either anterior or posterior cervical approaches or instrumentation and often involves anomalous courses of the artery. Although the incidence is rare, serious consequences including fistula formation, thrombosis, pseudoaneurysm development, cerebral ischemia, hemorrhage, and death may occur. Management of VAI can be divided into prevention, including review of preoperative imaging with knowledge of the anatomic course, utilization of surgical landmarks intraoperatively, and prompt recognition and management when injury is encountered.

Pediatric Otoplasty and Auricular Molding.

With the advent of widespread use of commercial ear molding products, the literature addressing the indications for and timing of perinatal intervention in auricular deformations and malformations has increased significantly. Although the rationale for perinatal ear molding seems to be hormonally mediated, the common assertion that breastfeeding may prolong the window of effective intervention remains without convincing evidence. The common auricular anomalies as well as indications, timing, and methodology of effective intervention including ear molding or surgical otoplasty are reviewed herein.

Novel Clinical Algorithm for Prenatal Monitoring of Congenital Lung Malformations.

INTRODUCTION: Congenital lung malformations (CLMs) are readily identified early in pregnancy with a variable natural history. Monitoring for lesion size and mediastinal shift (MS) is recommended following diagnosis. The purpose of this study is to propose a risk-stratified clinical algorithm for prenatal monitoring of CLM. METHODS: After ethical approval, all fetuses with CLMs evaluated at our fetal center from January 2015 to June 2022 were retrospectively reviewed. Patient demographics, imaging characteristics, and fetal interventions were collected. Lesions were stratified by congenital lung malformation volume ratio (CVR) and the presence of MS. Descriptive statistics and receiver operating characteristic curves were employed in the analysis. RESULTS: We analyzed 111 patients with a mean of 23.4 wk gestational age, a median CVR of 0.5 (interquartile range, 0.3-1.2), and MS in 76 of 111(68%) patients on initial evaluation. Among low-risk patients (CVR ≤1.1), 96% remained low-risk on final evaluation. No patients transitioned from low to high risk during the growth period. Patients with CVR >1.1 often had persistent MS (P < 0.001). Hydrops (5/111, 5%) and fetal intervention (4/111, 4%) only occurred in patients with CVR >1.1 (P < 0.001, P = 0.002) and MS (P = 0.144, P = 0.214). On receiver operating characteristic curve analysis, initial CVR >1.1 had 100% sensitivity and negative predictive value for hydrops and fetal intervention. CONCLUSIONS: CLMs with initial CVR ≤1.1 are low risk for hydrops and fetal intervention. We propose a risk-stratified algorithm for the monitoring of CLM during the growth period based on CVR. While our experience suggests that patients with CLM and MS are at higher risk, the current subjective assessment of MS is not adequately predictive. Incorporating an MS grading system may further refine risk stratification in the management of CLM.

Giant tubular adenoma of the breast in a child female – Case report / Adenoma tubular gigante de mama en mujer adolescente – caso clínico

Tubular adenoma of the breast is one of the rarest benign tumors and little is known about this entity. Some cases of giant tubular adenoma of breast have been reported, but till the moment the largest lesion described in literature was a case of a 18 cm tubular adenoma in 31-year-old women. In this case report of a 12-year-old patient, we present the largest giant tubular adenoma of the breast ever described. It was an atypical presentation, not only due to the tumor size, but also due to the absence of a clear cleavage plan with the breast tissue in the physical exam and its rapid growth. (AU)

El adenoma tubular de mama es uno de los tumores benignos más raros y poco se conoce sobre esta entidad. Se han reportado algunos casos de adenoma tubular gigante de mama, pero hasta el momento la lesión más grande descrita en la literatura fue un caso de adenoma tubular de 18 cm en una mujer de 31 años. En este caso clínico de una paciente de 12 años, presentamos el adenoma tubular gigante de mama más grande jamás descrito. Fue una presentación atípica, no solo por el tamaño del tumor, sino también por la ausencia de un plan de clivaje claro con el tejido mamario en el examen físico y su rápido crecimiento. (AU)

Defining the Spectrum of Hypoplastic Left Heart Syndrome (HLHS).

The 2021 International Paediatric and Congenital Cardiac Code and the Eleventh Revision of the International Classification of Diseases provide the following definition for hypoplastic left heart syndrome (HLHS): "Hypoplastic left heart syndrome (HLHS) is defined as a spectrum of congenital cardiovascular malformations with normally aligned great arteries without a common atrioventricular junction, characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia, stenosis, or hypoplasia of the aortic or mitral valve, or both valves, and hypoplasia of the ascending aorta and aortic arch." Although HLHS with intact ventricular septum (HLHS + IVS) and HLHS with ventricular septal defect (HLHS + VSD) are different cardiac phenotypes, both of these lesions are part of the spectrum of HLHS.

Torpedo Maculopathy. A Case Report.

AIM: Torpedo maculopathy is an incidental, congenital retinal lesion. The typical clinical finding is a unilateral, symmetric, oval, hypopigmented lesion in the inferotemporal macula. In most cases, the lesion is along the horizontal raphe, is torpedo-shaped, and the nasal edge is directed into the foveola. The diagnosis is determined on the basis of its characteristic shape, localization and findings on optical coherence tomography (OCT). The etiology and pathogenesis of torpedo maculopathy is unclear, but it is believed to be a congenital defect of the retinal pigment epithelium (RPE). The aim of this publication is  highlight this diagnosis and to present an incidental finding of torpedo maculopathy in an adult patient. CASE REPORT: A 30-year-old female patient reported for a routine eye examination. Fundus examination of the right eye revealed an oval hypopigmented lesion with a size of 1 disk diameter inferotemporally from the fovea, which was followed by a satellite lesion in the same axis directed into the foveola. Based on OCT, OCT angiography, fundus autofluorescence, and the typical shape and location of the lesion, the patient was diagnosed with torpedo maculopathy in the right eye. CONCLUSION: In general, torpedo maculopathy is an asymptomatic, congenital, benign retinal lesion, which is mostly diagnosed accidentally during a routine fundus examination. TM is non-progressive retinal finding with a minimal risk of deterioration of visual functions, which does not require any treatment. Nevertheless, due to the rare risk of a choroidal neovascular membrane, it is recommended to examine patients once a year. It is necessary to consider this diagnosis when a unilateral hypopigmented lesion is found inferotemporally from the fovea, and to distinguish it from chorioretinal atrophy, scar, vitelliform dystrophy, or other RPE lesions as part of the differential diagnosis.

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

INTRODUCTION: Peters anomaly is characterized by a defect in the development of the anterior segment of the eye during fetal development (Anterior segment dysgenesis). This anomaly presents a broad clinical presentation ranging from minimal peripheral corneal opacity to extensive adhesions of the iris and lens with dense central corneal opacity that impairs vision. Peters Plus Syndrome is a recessive autosomal syndrome manifested by Peters anomaly, along with systemic disorders such as brachydactyly (short fingers and toes), short stature, a developmental delay, dysmorphic facial features, and may accompanied with heart and genitourinary malformations. The most common sign of Peters' anomaly is corneal opacity that appears at birth. This opacity can cause blockage of the central visual axis and cause the development of a deprivational amblyopia. In addition, the patient may suffer from glaucoma due to malformations in the angle structures as well as a shallow anterior chamber. Treatments are aimed at clearing the central visual axis as soon as possible in order to allow the visual system to mature and to avoid the development of amblyopia. Full-thickness corneal transplantation combined with Cataract surgery if necessary is the current standard of care. Optical iridoplasty is a milder surgical alternative in cases where the corneal opacity is not significant.

Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.

Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, TOE1, encodes a protein involved in small ribonucleic acid maturation and processing. TOE1 mutation is associated with neuronal survival that causes hypoplasia of the cerebellum and pons. We report the case of a male patient with PCH7, developmental delay, ataxia, micropenis, and undescended testis. Genetic analysis revealed compound heterozygous missense variants (c.955C>T and c.533T>G) in the TOE1 gene.

Laparoscopic-assisted anorectoplasty for anorectal malformation with rectobulbar fistula: A two-center comparative study with posterior sagittal anorectoplasty.

Due to the controversy on the feasibility of laparoscopic-assisted anorectoplasty (LAARP) for the treatment of the anorectal malformation (ARM) with rectobulbar fistula (RBF), this study aimed to compare the outcomes of LAARP and posterior sagittal anorectoplasty (PSARP) for ARM with RBF. Demographic data, postoperative complications, and bowel function of RBF patients who underwent LAARP and PSARP at 2 medical centers from 2016-2018 were retrospectively reviewed. Eighty-eight children with RBF were enrolled, including 43 in the LAARP group and 45 in the PSARP group. There were no significant differences in the sacral ratio (P = .222) or sacral agenesis (P = .374). Thirty-seven and 38 patients in the LAARP and PSARP groups were followed up for a median of 4.14 years. The postoperative complications were comparable between the groups (P = .624), with no cases of urethral diverticulum. The urination of all cases was normal and no evidence of cyst formation was found on MCU or MRI during the follow-up period. The incidence of rectal prolapse was similar between the 2 groups (9.3% vs 17.8%, P = .247). The groups had equivalent Bowel Function Score (15.29 ± 2.36 vs 15.58 ± 2.88, P = .645), but the LAARP group had better voluntary bowel movement (94.6% vs 84.2%, P = .148) by Krickenbeck classification. The intermediate-term outcomes of LAARP show that the urethral diverticulum was rare by the intraluminal incision of the fistular and the bowel function was comparable to that of PSARP in ARM with rectobulbar fistula. However, LAARP was associated with smaller perineal wounds.

Two-balloon epistaxis catheter to ensure vaginal patency in a complex case of vaginoplasty for vaginal agenesis: a case report.

Congenital vaginal atresia is a rare anomaly of the female genital tract. Many vaginoplasty procedures have been described, but the postoperative risk of vaginal stenosis remains a challenge. We report a case of isolated distal vaginal agenesis in a patient with neurological impairment where the use of an "alternative" dilator was needed. An 11-year-old girl with Down syndrome was admitted to the Emergency Department complaining of pelvic pain. The clinical evaluation showed a hard and painful pelvic mass associated with an imperforate hymen. Abdominal ultrasound and pelvic MRI were suggestive for hematometrocolpos and absence of the lower third segment of the vagina. Vaginoscopy confirmed the diagnosis of congenital vaginal agenesis. The patient then underwent a laparoscopic-assisted vaginoplasty. Considering the difficult management of the postoperative period, an epistaxis catheter was used as a vaginal stent and dilator. The use of an epistaxis catheter to provide adequate vaginal patency after vaginoplasty can be an alternative solution especially in those cases where calibrations with dilators are difficult or not tolerated.

Evaluation of the changes in cardiac morphology of fetuses with congenital heart disease using fetalHQ.

Objective: To evaluate the changes in cardiac morphology of fetuses with congenital heart disease (CHD) using the fetal heart quantitative technique (fetalHQ).Methods: A total of 20 normal pregnant women (control group) and 20 pregnant women suspected of fetal CHD (case group) were included in this study. The dynamic images of the four-chamber view of the fetal heart were recorded and analyzed using fetalHQ. The global sphericity index (GSI) and 24-segment SI of the two groups were compared. The differences in the left and right ventricular 24-segment SI for each group were investigated.Results: There was no statistically significant difference in the GSI between the two groups (p > 0.05). The difference in the SI values of left ventricular segments 1-2 between the case group and control group was statistically significant (all p < 0.05), while the intergroup difference in SI of left ventricular segments 3-24 was not significant (all p > 0.05). The SI of the 24 segments of the right ventricle showed no significant intergroup difference (all p > 0.05). The difference in the left and right ventricular 24-segment SI in the case group did not reach statistical significance (all p > 0.05). In the control group, the SI values between the left and right ventricles were significantly different in segments 18-24 (all p < 0.05), and no significant difference was found in segments 1-17 (all p > 0.05). There was a statistically significant intergroup difference in the percentage of unusual left ventricular SI, determined based on Z-score (p < 0.05), and the percentage of outliers for the right ventricle between the two groups showed no significant difference (p > 0.05).Conclusion: The fetalHQ is regarded as a straightforward and reliable approach for assessing the cardiac GSI and 24-segment SI of left and right ventricles in fetuses diagnosed with CHD. While CHD may not significantly impact the overall shape of the fetal heart or the geometric shape of the right ventricle, in this study, a notable increase in SI values for the left ventricular 1-2 segments was observed, indicating a more flattened ventricular chamber. Additionally, the morphological distinctions between the left and right ventricles in fetuses with CHD are no longer discernible.

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. PATIENT CONCERNS: Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis. DIAGNOSIS: The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome. Whole exome sequencing detected the variants RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and RPGRIP1L (NM_015272.2) c.3545 del (p.Pro1182LeufsTer25). INTERVENTIONS: Resection was performed to correct the polydactyly. At age 2 years umbilical hernia, adenoid surgery and ventilatory tubes surgery were performed. Renal biopsy confirmed interstitial fibrosis and focally accentuated mild tubular atrophy with focal tubular hypertrophy, compatible with the clinical suspicion of Joubert syndrome. Congenital hip dislocation surgery was performed. The patient underwent surgery for correction of concomitant divergent strabismus and continued with glasses for astigmatism and hyperopia. OUTCOMES: Sanger sequencing confirmed the patient´s results and the father was found to be a carrier of RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and the mother and maternal grandmother as carriers of RPGRIP1L (NM_015272.2) c.3545del (p.Pro1182LeufsTer25). RPGRIP1L:c.3545del novel variant is a deletion which changes the reading frame, altering the RPGR1_C terminal domain and giving rise to an incomplete protein whose functions will be altered. CONCLUSION: This is the first genetically confirmed case of JS in Colombia, the first carrier of biallelic RPGRIP1L gene mutations with hip dislocation and incomplete glottic closure and the first report of the novel c.3545del likely pathogenic variant causing JS.

Treatment of congenital pulmonary airway malformation with rare high cystic volume ratio: A case report and literature review.

RATIONALE: Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation and accounts for 25% of congenital lung lesions. Commonly, it is diagnosed prenatally in ultrasound. The CPAM volume ratio (CVR) is a well-recognized predictor of fetal prognosis, and when the CVR is >1.6 cm2, the fetus is very likely to develop hydrops and even intrauterine deaths. However, the association of CVR with a wide range of complications and neonatal prognosis is unclear. PATIENT CONCERNS: Cystic lesions in the right thorax of the fetus detected by ultrasound at 19 weeks of gestation, with a CVR of 0.88 cm2. The CVR grew progressively with increasing gestational weeks, reaching a maximum of 5.2 cm2 at 35 gestational weeks. However, there were no complications with the fetus other than polyhydramnios. DIAGNOSIS: Imaging and pathological findings confirmed the diagnosis of CPAM. INTERVENTIONS: During pregnancy, a multidisciplinary team was involved in the management and the prenatal visits increased to weekly from 31 weeks of gestation. During the cesarean section, neonatologists and pediatric surgeons were present for timely evaluation of newborns. The neonate was admitted to the neonatal intensive care unit for monitoring immediately after birth and underwent thoracoscopic right lower lobectomy at 57th days old. OUTCOMES: The neonate recovered without any respiratory symptoms and no abnormality on chest computed tomography (CT) at the 3-month postoperative follow-up. LESSONS: During pregnancy, in addition to monitoring CVR, a multidisciplinary team should join in the management of CPAM patients. And as for the fetus with increased CVR, a closely monitoring after birth is necessary even if the general condition of the pregnancy is well. In particular, timely intervention should be made at the onset of respiratory symptoms.

Congenital duodenal web causing partial obstruction with recurrent vomiting and abdominal distention in a toddler boy: a case report.

BACKGROUND: The duodenal web is a thin, elongated, web-like structure that is one of the factors contributing to duodenal obstruction. Only 100 cases have been reported in the literature. We present a 2.5-year-old cachectic Afghan child who did not have any overt signs and symptoms of intestinal obstruction, like recurrent vomiting, abdominal distention, and weight loss. The web was discovered near the intersection of the third and fourth portions, which is an uncommon location for the duodenal web. The late presentation of congenital duodenal web with partial obstruction is rare but well-known and has been reported in this case. CASE PRESENTATION: A 2.5-year-old cachectic Afghan child who had recurrent vomiting and experienced abdominal distention was brought to Maiwand Teaching Hospital from the Jabelsuraj region of Parwan province. The patient was suffering from unusual signs and symptoms like recurrent vomiting, abdominal distention, weight loss, and constipation. The diagnosis of these anomalies was established by a detailed history, clinical features, and abdominal CT scan. In the computerized tomography scanning (CT-Scan) image reported, there was a web with stenosis and partial obstruction in the distal aspect of the third-to-fourth portion of the duodenum. After preoperative stabilization, the child was taken for surgery. The abdomen was opened by a right upper abdominal transverse incision. After web resection and duodenoplasty, the patient was shifted to the recovery room in satisfactory condition. The child was allowed to feed after 8 days, which he tolerated well. CONCLUSION: Congenital duodenal web with partial obstruction is typically observed in the second and third years of life. It is suspected in patients with recurrent vomiting, abdominal distention, weight loss, and constipation. Partial obstruction may not have an overt presentation, making it a challenging diagnosis for general practitioners. Abdomen X-ray and CT scan usually confirm the diagnosis, and successful surgical intervention is recommended.

[Lower jawbone structures symmetry evaluation using cone beam computed tomography]. / Otsenka simmetrichnosti kostnykh struktur nizhnei chelyusti po dannym konusno-luchevoi komp'yuternoi tomografii.

OBJECTIVE: To assess the prevalence and quantitative characteristics of skeletal asymmetries of the body and lower jaw branches in three-dimensional space. MATERIALS AND METHODS: Using depersonalized data archive, of 400 CBCT scans, forty studies were picked randomly. Patients aged 25 to 35 years participated in research, no history of maxillofacial reconstructive surgery; gender, race, and facial anomaly were ignored. Three experienced doctors, independently, identified 15 reference points on radiographic images of AUTOPLAN software. Expert consensus found in the orientation determination. Six planes and eight points were constructed, using Math algorithms and the Python OOP; body and branches of the lower jaw length measurements performed and processed automatically. RESULTS: The study identified symmetry, using a method for determining parameters of the lower jaw in 3D space (Priority Reference No.2023100466 at 10.01.2023), modern dentistry research method. Both sides of data obtained shown asymmetry of the body and branches of the lower jaw occurred in 45% (18 people) and 67.5% (27 people) of cases. Forty percent of cases were noted with Mild asymmetry of the lower jaw body (16 people), moderate asymmetry noted in 5% (2 people). These parameters were 57.5% for branches, (23 people) and 10% (4 people). Combined form of anomaly observed in 37.5% (15 people) of cases, among which 12 people (75%) showed adaptive compensation of anomalies, which requires further investigation on a larger number of patients. CONCLUSION: Lower body jaw asymmetry is prevalent (80%). Patients with moderate and serious anomaly form appeared in 15% of cases.

[Surgical treatment of a patient with mandibular micrognathia accompanied by obstructive sleep apnea syndrome using extended genioplasty]. / Khirurgicheskoe lechenie patsienta s mikrognatiei nizhnei chelyusti i sindromom obstruktivnogo apnoe vo sne metodom rasshirennoi genioplastiki.

A method for diagnosing, planning and surgical treatment of patients with micrognathia of the mandible with physiological occlusion is proposed, which makes it possible to objectively assess the severity of the anomaly and concomitant functional disorders of external respiration in the nasopharynx and oropharynx, as well as to identify the pathophysiological mechanisms of obstructive sleep apnea syndrome (OSAS) and develop an optimal surgical treatment plan with high functional and aesthetic results.