Congenital ectopic bilateral parotid glands are extremely rare, to date only two cases have been reported in the literature. Our patient, a 5-day-old male, presented with bilateral palpable cheek swelling. On imaging, the absence of bilateral parotid glands in parotid space and their ectopic location, anterior to the masseter muscle, was seen. Our case emphasizes ectopic parotids as an important differential among conditions presenting with bilateral cheek swelling in children. We have also compared the findings of previously described cases and their management with our case.

Cytomegalovirus (CMV) is the most common cause of congenital infection internationally, occurring in 0.67% of births, and increasingly recognised as a major public health burden due to the potential for long-term neurodevelopmental and hearing impairment. This burden includes estimates of 10% of childhood cerebral palsy and up to 25% of childhood deafness. In Sub-Saharan Africa, where CMV-seroprevalence is almost ubiquitous, prevalence of congenital CMV (cCMV) is higher than the global average, and yet there is a dearth of research and initiatives to improve recognition, diagnosis and treatment. This narrative review outlines the epidemiology and clinical presentation of cCMV, discusses issues of case identification and treatment in Sub-Saharan Africa, and recommends a framework of strategies to address these challenges. Considering the significant burden of cCMV disease in this setting, it is undoubtably time we embark upon improving diagnosis and care for these infants.

Thebesian veins are microfistulae that drain the coronary arteries directly into one or more chambers of the heart. Persistence of these anomalous connections into adulthood can lead to shunting of blood away from the myocardium causing typical chest pain symptoms with electrocardiogram changes consistent with ischemia. We describe a case of a 77-year-old female who underwent ischemic evaluation for her symptoms found to have significant Thebesian veins. We also engage in a comprehensive review of the literature finding consistencies in the way these cases are presented in the literature.

Background: Cytomegalovirus (CMV) infection represents a major issue worldwide, since it constitutes the most common viral congenital infection, with a prevalence of 0.58% and 1-5% in developed and developing countries, respectively. According to recent studies, prenatal treatment significantly decreases the risk of vertical CMV transmission, and early intervention may even prevent the termination of pregnancy. This study aimed to investigate the level of awareness of CMV among pregnant patients through a semi-systematic review. Methods: We included all of the original articles investigating knowledge and awareness about CMV infection among pregnant women. Our research included the PubMed database. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 statement, the Covidence system automatically guided us to screen the titles and/or abstracts, and then full-texts, followed by data extraction from the eligible studies. Results: We screened 764 studies altogether, with 13 studies included in this analysis. Knowledge about the existence of CMV infection risk varied between the articles, ranging from 11.4% in a study performed in Ireland to 60% reported in a study on the French population. Studies analyzing the impact of educational interventions on patients\' knowledge about preventive measures reported significant improvement compared to their level of awareness before the intervention. Conclusions: Patients\' awareness and knowledge about CMV seemed to be generally low or very low during the last decade before the development of effective secondary prevention methods. Educational interventions seem to be effective, and therefore their wide use could be of potential benefit. In the era of available secondary prevention of vertical transmission, it is crucial to concentrate the efforts of different stakeholders to increase the awareness of cCMV among pregnant women.

Isolated unilateral absence of lunate is an extremely rare condition with only one such case reported in English literature so far. The rarity of this condition can lead to diagnostic dilemma, especially if patient has an old history of trauma or surgery around the wrist, leading to unnecessary intervention and difficulty in ensuring a good surgical outcome. We present such a case and discuss the clinical pointers to the diagnosis of this condition. Level of Evidence: Level V (Therapeutic).

UNASSIGNED: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion.
UNASSIGNED: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma.
UNASSIGNED: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive.

Congenital pseudarthrosis of the clavicle (CPC) is a rare disorder with an unknown etiology, which is caused by a failure of the clavicle ossification nuclei union process. This is the first CPC twin instance documented in Saudi Arabia, and the fourth overall. In the 33rd week, a set of twins was born prematurely with respiratory distress syndrome. They were both admitted to the neonatal intensive care unit. X-rays of the chest were taken, and the clavicular deformity was discovered. Because the twins were born via a cesarean section, a traumatic clavicular fracture was ruled out. The family members were evaluated, and the same defect was discovered in the father as well, highlighting a genetic predisposition.

UNASSIGNED: CYP21A2 gene mutations are responsible for more than 95% of Congenital Adrenal Hyperplasia (CAH) disorders with autosomal recessive inheritance. Most of these pathogenic mutations originate from the CYP21A1P, a neighboring pseudogene with 98% homology, due to unequal crossing over or gene conversion events. Mutation identification of the gene could be beneficial for accurate diagnosis and outcome prediction.
UNASSIGNED: Twelve unrelated patients with CAH diagnosis were recruited for genetic counseling. To ensure distinct amplification of the CYP21A2 gene rather than its pseudogene, the complete sequence of the gene was amplified through two overlapping fragments by specific primers. The entire sequences were screened by direct Sanger sequencing using new sequencing primers.
UNASSIGNED: Only two pathogenic point mutations were identified. The c.293-13C>G, also known as In2G, and the c.955C>T mutations were found in 37.5 and 33.3% of alleles, respectively. One patient showed homozygous gene deletion. We also reviewed recent reports on CYP21A2 gene mutations in Iran.
UNASSIGNED: Evaluating the ethnicity-specific gene mutation data is significant for populations with diverse ethnic groups including the Iranian population. Although several common mutations have been reported as causative mutations among CAH patients, identifying only two common point mutations in Fars province would help prioritize exon sequencing and reduce the cost and time of genotyping.

OBJECTIVE: Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic-however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members.
METHODS: This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included.
RESULTS: Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%).
CONCLUSIONS: Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors\' findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.

The clinical presentation of enteric duplication cysts is dependent on the location of the cyst with symptoms varying from nausea and vomiting to abdominal distension, pain and perforation. Four patients were identified who were diagnosed with enteric duplication cysts within the period from 2019 to 2023. Three of the patients presented with signs of intestinal obstruction-abdominal distension and pain, while one had an antenatally detected abdominal mass. There were three boys and one girl with ages ranging from 4 months to 14 years. Three cases of ileal and one case of caecal duplication cyst were reported. Most of the cases showed ileal/caecal mucosa while one case demonstrated ectopic gastric mucosa. The treatment of these cysts includes surgical excision. Although radiological investigations help in arriving at a provisional diagnosis, the final diagnosis can be confirmed only after histopathological examination. Early treatment prevents complications and results in a good prognosis for the patient.