Unusual Presentation of Pulmonary Interstitial Glycogenosis: A Case Report Study

Introduction: Pulmonary interstitial glycogenosis (PIG) is a kind of children’s interstitial lung disease (ChILD). This is exclusively limited to neonates and infants. Often, PIG is diagnosed in the lung biopsy in a short time after birth (usually < 6 months). Most cases of PIG in infants are symptomatic within the first days to weeks of life. PIG expresses itself with diverse clinical symptoms such as tachypnea and hypoxia and may lead to acute respiratory failure in neonates. Case Presentation: In this case report study, we presented a 1.5-year-old boy with the chief complaint of stage 4 clubbing in fingers and toes. Mild chest deformity was observed in his physical exam. No evidence of respiratory and cardiac complications was observed. Initial lab tests and further specific studies were normal. His parents did not mention the history of any diseases in this patient. His chest X-ray (CXR) showed hyperinflated lungs, diffuse bilateral interstitial infiltration, and hazy opacities. Ground glass opacities (GGO) and interlobular septal thickening and cystic changes with reversed halo sign in both lungs were observed in his chest computerized tomography (CT). Finally, pulmonary biopsy showed a high level of glycogen-laden mesenchymal cells in the interstitium of alveoli, and vimentin-positive interstitial infiltration in lung parenchyma confirmed the PIG diagnosis. Conclusions: The new manifestation of PIG, which has been reported in this case, can be beneficial for future diagnoses of PIG.

Unnecessary Chest Tube for a Hemodialytic Patient with Multiple Trauma: A Case Report

Background Pneumothorax (PTX) is a life-threatening condition that overdiagnosis could result in increases in mortality and morbidity of patients, this overdiagnosis would be increased if physicians do not manage the patient classically and do not pay attention to the physical exam and history of the patient. Case presentation: A-71-year old man was admitted to the emergency department due to multiple trauma. His vital signs were stable and in examination, there were two lacerations on his scalp with venous bleeding source and galea transaction; there were also some abrasions all over his body including his thorax. In the physical exam, there was no sucking lesion, decreases in respiratory sounds in auscultation or chest deformity but he had little right hemithorax rib tenderness. In more evaluations, there was a suspected visceral line of pleura in his CXR and no plural sliding movement was seen in E-FAST by the operator. Due to the inconsistency in physical exam and radiologic findings we decided to take a chest CT-scan before the insertion of the chest tube that indicated no PTX for him and the suspected visceral line in CXR was skin fold of a permacath for hemodialysis. Conclusions Several conditions could mimic findings of PTX in CXR that every physician should know and pay attention to them besides special attention to the history taking and physical examination to reduce the mortality and morbidity of patients.

Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome

Aim: Aim of this case report is to describe oro-facial abnormalities in a patient affected by Helsmoortel-Van der Aa syndrome, a rare autism syndrome, with not well described dental and cranial malformations. Case Report: Helsmoortel-Van der Aa Syndrome is a rare autosomal genetic syndrome causing mental impairment and autism, craniofacial dysmorphism, chest deformity and multiple organs dysfunction. Oro-facial involvement in Helsmoortel-Van der Aa syndrome has not been thoroughly described yet. The present article reports a case of a 9 years old male patient affected by Helsmoortel-Van der Aa Syndrome, presenting with oral breathing typical facies, high arched palate, II class and dental crowding. The patient teething was adequate to his age. The enamel of incisors and molars showed demineralization areas and dark spots, a clinical picture consistent with molar incisor hypomineralization syndrome. These hypo-mineralized areas are more susceptible to cavities, in fact the patient’s 4.6 tooth was decayed. The child was brought to our attention due to a mucocele on the lower lip, confirmed by histopathologic examination. Available data on oro-dental manifestation of this syndrome are rather poor and inconsistent, also due to the rarity of the disease. The finding of enamel abnormalities in the presented case could suggest a potential genetic etiopathogenesis linked to the same genes causing Helsmoortel-Van der Aa syndrome.

Bilateral Lung Transplantation for Patients With Destroyed Lung and Asymmetric Chest Deformity

Background: Destroyed lung can cause mediastinal displacement and asymmetric chest deformity. Reports on bilateral lung transplantation (LT) to treat destroyed lung and asymmetric chest deformity are rare. This study presents our surgical experience of bilateral LT among patients with destroyed lung and asymmetric chest deformity.Methods: Six patients with destroyed lung and asymmetric chest deformity who underwent bilateral LT at our center from 2005 to 2020 were included in the study. Demographic data, technical data, perioperative details, and short-term follow-up data were reviewed.Results: Three patients underwent bilateral LT via anterolateral incisions in the lateral position without sternal transection, while three patients underwent bilateral LT via clam-shell incisions in the supine position with sternal transection. Only one patient required intraoperative extracorporeal membrane oxygenation. Four patients underwent size-reduced LT. In the other two patients, we restored the mediastinum by releasing mediastinal adhesions to ensure maximal preservation of the donor lung function. Patients in the lateral position group had a higher volume of blood loss, longer operation time, and longer postoperative in-hospital stay than those in the supine position group. However, these differences were not statistically significant. Postoperative computed tomography in the supine position group revealed that the donor lungs were well expanded and the mediastina were in their original positions.Conclusions: Although bilateral LT in patients with destroyed lung and asymmetric chest deformity is high risk, with sufficient preoperative preparation and evaluation, it is safe and feasible to perform bilateral LT for selected patients. For patients without severe chest adhesions, releasing the mediastinal adhesions and restoring the mediastinum through a clam-shell incision in the supine position is a simple and effective method to maximally preserve the donor lung function without pneumonectomy or lobectomy.

Vertebral Fractures as a Manifestation of Phosphaturic Mesenchymal Tumor-Induced Osteomalacia

Background. The rarity of the disease and, in this regard, the lack of doctors awareness about the pathology, late diagnosis and severe complications of the musculoskeletal system emphasize the relevance of clinical case demonstrating. The uniqueness of the case lies in the fact that hypophosphatemia, noted 3 years after the disease debut, was not taken into account.Case description. A 45-year-old patient with complaints of muscle weakness, gait disorders, torso deformity and multiple vertebral body fractures that appeared against the background of any somatic diseases absence, a differential diagnosis of metastatic vertebral bodies lesions and secondary osteoporosis complicated by vertebral body fractures was carried out for four years in various hospitals, and was even treated with bisphosphonates. Against this background, the chest deformity increased, kyphosis and remodeling fractures of other bones appeared. The assessment of calcium and phosphorus homeostasis was first performed at the 4th year of the disease, but the detected hypophosphatemia was not regarded as a manifestation of hypophosphatemic osteomalacia.Conclusion. Among adult patients with multiple low-energy fractures, severe muscle weakness and bone pain that appeared against the background of complete health, to exclude hypophosphatemic osteomalacia induced by mesenchymal tumor, it is necessary to include the level of phosphorus in blood and daily urine assessment in the diagnostic algorithm.

Surgical Approach to Rib Fractures

Rib fractures due to thorax trauma are one of the issues that mostly concern thoracic surgeons. Treatment for rib fractures is usually conservative. However, in some cases, fractured rib can cause complicated situations and surgical repair is required. Very serious respiratory problems occur in multiple costa fractures. Therefore, many advantages of surgical stabilization of the thorax wall have been reported. Especially shortening mechanical ventilation, decreasing the duration of intensive care unit stay, is important in preventing complications. Operation indications; Persistent pain despite intercostal block, narcotic and nonsteroidal anti-inflammatory analgesics, It was determined upon the presence of leakage from the thorax tube, intrathoracic hematoma and flail chest deformity. Nowadays, nithinol plates and titanium plates are frequently used in surgeon fixation of the rib fractures.

Biomechanical modeling and problematic issues of surgical correction of congenital funnel chest deformity

Congenital funnel chest deformity (CFCD) is noted in 0.6–2.3% of the population and accounts for 90% of all congenital chest deformities. Nuss thoracoplasty is the most common method for treating CFCD, which is considered a minimally invasive technology and provides a quick cosmetic effect. Purpose is to search for models of CFCD and its surgical correction in order to create a technique that is as close to reality as possible, which will make it possible to optimally plan and rationally carry out the forthcoming operation. Analysis of literature sources showed that, on the one hand, the construction of simplified models of the chest allows quick research, but these simplifications do not allow for an objective assessment of the influence and interaction of various elements of the complex biomechanical system «sternum–rib–spine». On the other hand, complex models are more reliable, but hardly available for implementation due to their ultra-high manufacturability and cost. In addition, in studies of stress-strain state on models of the chest, the presence of the spinal column or the interaction of the ribs with the vertebrae has been insufficiently studied. When in the works on modeling road traffic injuries this is justified due to the support of the spine on the seat, then when modeling the correction of chest deformities, the lack of consideration of the mobility of the articular joints and the flexibility of the spinal column can lead to incorrect and false results. It is promising to create a technique for modeling CFCD and its surgical correction in conditions close to reality. This will make it possible to develop a rational modification of thoracoplasty based on the D. Nuss operation under the condition of one–stage full–fledged stable correction and minimal biomechanical loads in the «sternum-rib-spine» system. No conflicts of interest was declared by the authors. Key words: funnel chest deformity, thoracoplasty, biomechanics.

Doctor, My Chest is Deformed…..

Congenital chest wall deformities occurred in roughly 1% of children and if asymptomatic are often overlooked and taken lightly. This results in a progressive deformity of the chest and delays in diagnosis of the underlying causes. Complications can also develop from the underlying condition. Chest wall deformities are associated with a number of syndromes and other anomalies including abnormalities of the diaphragm. Congenital Diaphragmatic Hernia (CDH) is one of the underlying causes of chest deformity. Congenital Morgagni Hernia (CMH) is a rare form of CDH and consists of 3-5% in all CDH. Many cases were delayed in diagnosis due to the subtle presentation or were incidental findings. The consequence of delay in diagnosis can lead to the onset of complications which carries morbidities and even mortality. We report a case of a child with missed diagnosis of a rare condition Morgagni Diaphragmatic Hernia presenting with chest deformity.

Mathematical calculation and coefficient value of chest shape recovery for planning thoracoplasty of pectus excavatum

Background. Pectus excavatum is characterized by retraction of the sternum and anterior ribs of different depth and width. The formation, its prediction, calculation of chest deformity, and their study when planning thoracoplasty using the Nuss procedure for this pathology is an important problem of orthopedics and thoracic surgery. The purpose of the work was to calculate the coefficient of restoration of the chest shape by the ratio of the pectus excavatum depth and the chest size in the frontal plane before and after mathematical modeling of thoracoplasty using the Nuss procedure. Methods. To assess displacement of ribs depen-ding on depth deformity of chest h, two models were built. The first model is a flat frame on supports, the elements of which consist of cartilaginous parts of ribs and sternum. For this model, the dependence of the force F was determined, which is necessary to correct the depth of chest deformity. The second model is a curved bar that simulates a rib, to one of the ends of which a support load is applied, calculated during the analysis of the first model. For this model, the displacement of the plate fixation point under the action of a given force was determined. To obtain more accurate results, a finite element study was performed on a chest model. Results. The correction of pectus excavatum depth without fixing plate to ribs was simulated. The displacements of rib sections in the place of plate fixation at different depths of pectus excavatum was assessed: h = 2 cm, h = 3 cm, h = 4 cm, h = 5 cm. The analysis of calculation results showed that after correction of the depth of chest deformity, its size in the frontal plane decreases. So, at the maximum deformation depth h = 5 cm, the deviation of the rib sections at the plate fixation point occurred by 2.4 cm. Conclusions. The relationship between the pectus excavatum depth and chest size in the frontal plane was established when modeling the newly formed chest form during for Nuss procedure. The coefficient of restoring the chest shape was mathematically calculated, which is 2 (2∆ = h), where h is the depth of pectus excavatum. The practical significance of the coefficient is that when planning thoracoplasty and shaping plate, the distance between its lateral ends, which corresponds to the chest shape and adjoin ribs, must be reduced by ½ h (where h is the depth of pectus excavatum) before correcting the pectus excavatum full adherence to the ribs in the postoperative period.

Minimally invasive correction of asymmetric chest deformity in children

Purpose. To analyze literature data and to find out optimal techniques for surgical correction of asymmetrical chest wall deformity in children.Material and methods. The researchers studied data on surgical treatment of children with asymmetrical chest wall deformity who had thoracoplasty performed with well-known techniques developed by Bairov, Timoshchenko, Paltia, Ravitch, Kondrashin which included the resection of crooked cartilage and internal metal fixation with consideration of deformity shape, location and severity. For comparison, the authors analyzed the data on the minimally invasive Nuss technique and its modifications.Results. The researchers found that thoracoplasty by the Bairov method is less effective which gives the largest number of postoperative complications (16.5%) in the form of hemothorax, pneumothorax and hydrothorax what significantly increased the length of hospital stay and the following rehabilitation process. On the contrary, minimally invasive interventions were the most effective, if to compare with all applied techniques for chest wall deformity correction, having a low percentage of complications; though their drawback is long-term postoperative analgesia.Conclusion. At present, there is no any consensus on the top-priority technique for surgical correction of chest wall deformity in children. It necessitates further research in this direction as well as improvement of the existing techniques and development of new ones.