Syndromic Craniosynostosis: A Comprehensive Review.

Craniosynostosis is a fetal skull condition that occurs when one or multiple sutures merge prematurely. This leads to limited growth perpendicular to the fused suture, which results in compensatory growth of cranial bones parallel to it. Syndromic craniosynostosis ensues when the cranial deformity is accompanied by respiratory, neurological, cardiac, musculoskeletal, and audio-visual abnormalities. The most common syndromes are Apert, Crouzon, Pfeiffer, Muenke, and Saethre-Chotzen syndromes and craniofrontonasal syndrome. Each of these syndromes has distinct genetic mutations that contribute to their development. Mutations in genes such as FGFR, TWIST, and EFNB1 have been identified as playing a role in the development of these syndromes. Familiarity with the genetic basis of each syndrome is not only essential for identifying them but also advantageous for current pharmacological investigations. Surgical treatment is often necessary for syndromic craniosynostosis to correct the cranial deformities. Advances have been made in surgical techniques for each specific syndrome, but further research is needed to develop personalized approaches that address the unique symptoms and complications of individual patients, particularly those related to neurological and respiratory issues. This group of syndromes included in cranial synostosis presents significant educational and clinical interest due to the wide range of symptoms and the variable course of the disease, especially in the last decades when crucial advances in diagnosis and treatment have been achieved, altering the prognosis as well as the quality of life of these patients. In summary, this article provides a comprehensive overview of syndromic craniosynostosis, including the genetic mutations associated with each syndrome and the surgical treatment options available.

Duplicated gallbladder: an incidental anatomical variation in a patient with symptomatic cholelithiasis.

Congenital malformations of the biliary tract represent a relatively rare entity with which surgeons, radiologists and clinicians are not adequately familiarized. We present a rare case of gallbladder duplication in a 40-year-old female, with the accessory cystic duct entering the left hepatic duct, which depicts the fifth reported case in the international bibliography. Our case illustrates the importance of detailed knowledge of anatomical malformations of the biliary tree, serving the purpose of a preoperative diagnosis of symptomatic cholelithiasis. It is also of paramount importance to take under consideration biliary tract malformations to avoid inadvertent complications such as biliary duct injuries in case of laparoscopic cholecystectomy.

Partial Superficial Parotidectomy Versus Extracapsular Anatomical Dissection for the Treatment of Benign Parotid Tumors.

OBJECTIVES: Superficial benign parotid tumors are a common neoplasm of the salivary glands. Different surgical procedures have been applied for partial superficial parotidectomy (PSP) and extracapsular dissection (ECD), which are the two predominant surgical techniques. Our study aimed to evaluate PSP versus ECD for benign parotid tumors, in relation to post-operative complications and recurrence rates. MATERIALS AND METHODS: 266 patients who underwent parotidectomies of benign superficial parotid tumors were evaluated retrospectively. The first group (PSP group) was composed of 143 patients who underwent PSP, and the second group (ECD group) was composed of 123 patients who underwent ECD. RESULTS: In the ECD group the rate of patients presenting with total postoperative permanent facial nerve paralysis, House-Brackmann grade III, was 0.8%, whereas in the PSP group it was 1.4%. Frey's syndrome was only reported in the PSP group. Salivary fistula occurred in both groups at similar rates. Sensation dysfunction due to greater auricular nerve division occurred in 72% patients in the PSP group and 10.6% in the ECD group. No statistical difference regarding recurrence rates was found between the two groups. CONCLUSIONS: Both ECD and PSP procedures are safe surgical options for superficial parotidectomy in the treatment of benign tumors, with similar recurrence rates and post-surgical complications, apart from sensation abnormalities due to more extensive auricular nerve division.

Paraesophageal Hernia in a Newborn Mimicking Esophageal Atresia.

A defect of the esophageal hiatus can lead to herniation of the stomach or other abdominal organs into the thoracic cavity, a condition called hiatal hernia. They constitute a rare clinical entity during infancy and childhood and their symptoms can be non-specific or subtle, making the diagnosis difficult even for experienced clinicians. In all cases, surgical treatment of the defect is necessary because of life-threatening complications. We present a rare case of a newborn with congenital paraesophageal hernia (CPEH) and microgastria, who was initially referred to our center with the diagnosis of esophageal atresia due to the inability to pass an orogastric tube beyond 15 cm from the gum margin. A contrast study revealed the CPEH. The patient underwent emergent surgery and has had no signs of recurrence until now. Although the diagnosis can be very tricky and mimic other conditions, a high level of suspicion should exist especially in patients with persistent symptoms of gastroesophageal reflux or recurrent respiratory infections. In neonates, signs and symptoms can be indicative of esophageal obstruction which should be ruled out with an upper gastrointestinal (GI) study.

Anatomical Variations of the Iliohypogastric Nerve: A Systematic Review of the Literature.

Several anatomical variations of the iliohypogastric nerve branches have been observed in earlier studies. Knowledge of these variations is useful for the improvement of peripheral nerve blocks and avoidance of iatrogenic nerve injuries during surgeries. The purpose of this study was to perform a systematic review of the literature about the anatomical topography and variations of the iliohypogastric nerve. An extensive search on PubMed, Scopus, and Web of Science electronic databases was conducted by the first author in November 2021, based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Anatomical or cadaveric studies about the origin, the course, and the distribution of the iliohypogastric nerve were included in this review. Thirty cadaveric studies were included for qualitative analysis. Several anatomical variations of the iliohypogastric nerve were depicted including its general properties, its origin, its branching patterns, its course, its relation to anatomical landmarks, and its termination. Among them, the absence of the iliohypogastric nerve ranged from 0 to 34%, its origin from L1 ranged from 62.5 to 96.5%, and its isolated emergence from psoas major ranged from 47 to 94.5%. Numerous anatomical variations of the iliohypogastric nerve exist but are not commonly cited in classic anatomical textbooks. The branches of the iliohypogastric nerve may be damaged during spinal anesthesia and surgical procedures in the lower abdominal region. Therefore, a better understanding of the regional anatomy and its variations is of vital importance for the prevention of iliohypogastric nerve injuries.

Unilateral aural atresia: a case report.

Congenital aural atresia refers to abnormal embryological development of the external auditory canal. The treatment of this anatomical malformation is only surgical repair. This article reports a case of unilateral congenital aural atresia, the surgical procedure performed and the post-operative findings.

Left Coronary Artery Circumflex Branch Arising From Main Stem of Pulmonary Artery: An Uncommon Anatomical Variation.

The left circumflex coronary artery anatomy is considered highly variable. Herein, we present a case of a 9-year-old male child with a remarkable medical history of a spontaneously closed interventricular septal defect, without residual regurgitation, who was referred for cardiological evaluation in view of orthopedic surgery. During the preoperative examination, echocardiography was performed, which showed multiple flows in the interventricular septum as well as a diastolic flow at the level of the pulmonary valve. Due to these findings, it was decided to perform a cardiac catheterization. On cardiac catheterization, it was diagnosed an anatomical variation of the circumflex branch of the left coronary artery arising from the main stem of the pulmonary artery. Significant stenosis was remarkable, as well as collateral circulation of both the circumflex and the left anterior descending artery with the right coronary artery. The child finally at the age of 11 underwent cardiothoracic surgery. To conclude, during asymptomatic cardiological evaluation, we should always think about the possibility of anatomic variations of the coronary arteries. Missing these types of anomalies may predispose to inadvertent life-threatening complications or sudden death.