BACKGROUND: This case report presents a rare combination of congenital anomalies in an otherwise healthy male infant born at 36 weeks. The infant was diagnosed with congenital maxillomandibular synechia, ectrodactyly, and ankyloglossia superior syndrome (ASS).
METHODS: Inability to open the mouth completely, feeding challenges, and a cleft palate. The infant was stabilized through successful positive pressure ventilation via a face mask at birth and enteral feeding was initiated via a feeding gastrostomy.
RESULTS: Diagnostic tests revealed a midline palatal cleft, hypoplastic jaws, persistent metopic suture, and a bony fusion at the midline.
METHODS: Sectioning of the bony spur along the midline and achieving a mouth opening of 2 cm post-manipulation. The patient is under follow-up, with future treatment plans including cleft palate correction at 12 months and potential frontomandibular and lower jaw advancement depending on growth trajectories.
UNASSIGNED: This case underscores the complexity of managing multiple congenital anomalies and the need for individualized treatment plans.

Chest wall sarcomas are reported to be infrequent among thoracic tumors. The spindle cell subtype makes up a small percentage of this group. These tumors can be asymptomatic or cause symptoms of chest pain and shortness of breath due to the mass effect, which can lead to a delay in diagnosis. A 10-year-old female with a persistent cough, shortness of breath on exertion, and left-sided chest pain presented to the ED. Imaging indicated a chest wall mass filling the left hemithorax with a rightward mediastinal shift. During surgical resection, two tumors were removed, with resection of parts of the latissimus dorsi and serratus anterior. A diagnosis of MGA:NUTM1 spindle cell sarcoma was made pathologically. The patient was successfully treated with surgery and adjuvant chemoradiotherapy. We hope to add to our academic knowledge by presenting the presentation and treatment of SCS in a pediatric patient.

UNASSIGNED: Severe tricuspid regurgitation (TR) causing cyanosis with patent foramen ovale (PFO) and right-to-left atrial shunting requires a precise diagnosis for optimal therapy. Tricuspid valve prolapse (TVP) can lead to TR and is sometimes overlooked, especially in complex cases with factors like pulmonary hypertension (PH). We present an infant with cyanosis and profound TR after high-altitude exposure, initially misattributed to PH but found to be primarily due to spontaneous chordae tendineae rupture and TVP. This case underscores the challenges in diagnosing TR-induced cyanosis.
UNASSIGNED: The 3-month-old infant rapidly developed cyanosis, hypoxemia, right atrial enlargement, severe tricuspid regurgitation (TR), and patent foramen ovale (PFO) shunting after high-altitude exposure. Although echocardiography revealed tricuspid valve prolapse (TVP), initial consideration linked TR and right-to-left shunting to pulmonary hypertension (PH) due to the temporal correlation with rapid altitude exposure. Despite hemodynamic stability and the absence of respiratory distress after respiratory support and combined PH medication therapy, the persistent hypoxemia did not reverse as expected. This treatment outcome and repeated echocardiograms reminded us that TR was primarily caused by TVP rather than PH alone. Intraoperative exploration confirmed that TVP was caused by a rupture of TV chordae tendineae and anterior papillary muscle head, and the chordae tendineae/papillary muscle connection was reconstructed. After surgery, this patient was noncyanotic with an excellent long-term prognosis, a trivial TR with normal TV function being observed echocardiographically.
UNASSIGNED: TR-induced cyanosis can be not only a consequence of PH and right-sided heart dilation but also a primary condition. Repetitive reassessment should be undertaken with caution, particularly when patients are not improving on therapy in the setting of conditions known to predisposition to secondary TR. Since TVP caused by rupture of the chordae or papillary muscles is rare but fatal in children, early diagnosis is clinically substantial to proper management and satisfactory long-term outcomes.

Infections with Shiga toxin-producing Escherichia coli (STEC) are increasing in Denmark and elsewhere. STEC is also the most frequent cause of haemolytic uraemic syndrome (HUS) in Danish children. Most cases are considered sporadic, while approximately one-third can be attributed to a known source of infection. Hence, we examined sources of sporadic STEC infection in Denmark. From January 2018 to December 2020, we conducted a prospective nationwide case-control study among Danish adults and children. Cases with confirmed positive STEC infection were notified infections within the national laboratory surveillance system. Control persons were randomly selected from the Danish Civil Registration System, individually matched in age in 5-year bands and sex. Participants were invited by an electronic letter to complete either an adult or child questionnaire online. Univariate and adjusted matched odds ratios were computed for adults and children using conditional logistic regression. The study recruited 1583 STEC cases and 6228 controls. A total of 658 cases (42%) and 2155 controls (35%) were included in the analysis. Depending on age, univariate analysis adjusted for socio-demographic determinants showed that the consumption of boiled beef (mOR = 2.2, 95% confidence interval (CI): 1.6-3.1) and fried minced beef (mOR = 1.6, CI: 1.2-2.1), drinking raw (unpasteurized) milk (mOR = 11, CI 1.1-110), eating grilled food (mOR = 9.8, CI: 5.6-17) and having a household member using diapers (mOR = 2.1, CI: 1.4-3.2) were determinants of sporadic STEC infection. Further multivariate adjusted analysis resulted in the same determinants. This study confirms that beef is an overall important risk factor for STEC infection in Denmark. We also present evidence that a proportion of sporadic STEC infections in Denmark are determined by age-specific eating habits, environmental exposures and household structure, rather than being exclusively food-related. These findings are relevant for targeted public health actions and guidelines.

Background: Raghib syndrome is a rare malformation complex consisting of the drainage of the left superior vena cava (LSVC) into the left atrium, ostial atresia of the coronary sinus and an atrial septal defect (ASD). Case Report: This report aims to present the case of a child newly diagnosed with Raghib syndrome, complicated by pulmonary arterial hypertension, and to review previously published cases with the same diagnosis. A six-year-old female patient presented with signs and symptoms of heart failure (Ross III), reduced exercise tolerance and severe delay in stature and ponderal development. The imagistic work-up included echocardiography, followed by computer tomography (CT) and magnetic resonance imaging (MRI), through which a diagnosis of Raghib syndrome was established, complicated by pulmonary hypertension. As in other cases presented in the literature, MRI allowed for an accurate diagnosis, detecting the absent coronary sinus. The decision regarding the surgical closure of the ASD was made, with the patient having a favorable clinical evolution but with the persistence of elevated pulmonary artery pressure, for which Sildenafil therapy was instituted. Conclusions: The malformation complex consisting of an atrial septal defect, ostium atresia of the coronary sinus, uncovered coronary sinus, and persistent left superior vena cava, as identified through multiple imagistic investigations, was suggestive of the rare diagnosis of Raghib syndrome in this case. Among the limited number of cases of Raghib syndrome available in the literature, the present case is distinguished by the severity of the pulmonary artery hypertension at a very young age and in the absence of other concurrent cardiac malformations.

Background: Autism spectrum disorder (ASD) is a persistent neurodevelopmental disorder frequently co-occurring with attention-deficit/hyperactivity disorder (ADHD) and behavior-related disorders. While behavioral therapy is the first-line option to manage the core symptoms of ASD, pharmacological therapy is sometimes needed to treat acute problems, such as agitation and aggressive behaviors. Recent guidelines recommend the use of neuroleptics to reduce psychomotor agitation in patients with ASD. However, as children with ASD are often drug-resistant, alternative treatments are often justified. Reports from the literature have indicated that intravenous valproate (IV-VPA) can be effective in reducing agitation in psychiatric patients, with a lower frequency of adverse events compared to conventional treatments. However, as the related findings are occasionally inconsistent, IV-VPA is not yet an approved option in the context of clinical psychiatry. We aim to improve knowledge of the IV-VPA treatment option for emergency psychiatric treatment in pediatric patients. Methods: We report the case of an 11-year-old boy suffering from a complex neurodevelopmental condition who experienced a psychotic episode with severe aggressive and disruptive behaviors and was successfully treated with IV-VPA. Furthermore, we provide an updated literature review on this topic. Conclusion: In our case, first-line therapies proved to be ineffective. To the contrary, IV-VPA led to safe and prompt clinical success, which is in line with other reports. Based on our literature review, IV-VPA can be highly effective and reduces the risk of adverse events that frequently occur with the use of high-dose standard medications in emergency psychiatry.

Objectives: The purpose of this study was to report on the menarcheal age in girls of Greek origin and assess its potential associations with their demographic and perinatal data, as well as their maternal menarcheal age. Methods: In this case-control study, adolescent girls were recruited between September 2021 and September 2022 from two Pediatric Endocrinology Units, Aristotle University of Thessaloniki, Greece. Eligible participants included Greek girls up to the age of 18 years, with menarche and the absence of chronic disease or chronic medication use. Participants were divided into two groups, the early menarche group and the control group (menarche before or after 11 years of age, respectively). Data included participants\' maternal menarcheal age, their chronological age, place of residence, anthropometric data (at recruitment) and perinatal data (birth order, gestational age, type of delivery, birth weight/length). Results: A total of 100 girls aged 7-17 years (mean age ± SD 12.51 ± 2.59 years) were included in this study. The mean ± SD menarcheal age of the total sample was 11.47 ± 1.55 years (median 11.20 years; range 7.50-16.25 years); 43% had early menarche (median menarcheal age 10.50 years; range 7.50-10.91 years), and 57% had menarche after age 11 (median menarcheal age 12.08 years; range 11.00-16.25 years). The caesarean section rate was significantly (p < 0.001) higher in girls with early menarche (83.7%) than controls, whereas other variables did not differ significantly between groups. Conclusions: This Greek sample demonstrated a relatively young age at menarche with a significant proportion of girls with early menarche; in the latter group, the rate of caesarian sections was significantly higher than controls.

Hepatobiliary ascariasis is caused by the entry of the nematode A. lumbricoides from the duodenum into the biliary duct. We report a case of an Ascaris-induced extrahepatic biliary tract obstruction in a pediatric patient admitted to the hospital due to a wide spectrum of symptoms of biliary disease, which included abdominal pain in the upper abdominal quadrants, vomiting, and jaundice. Imaging tests-including ultrasound, magnetic resonance cholangiopancreatography (MRCP), and endoscopic retrograde cholangiopancreatography (ERCP)-were performed to confirm the diagnosis of biliary ascariasis. The tests did, in fact, demonstrate signs of this disease. Nevertheless, during the ERCP, only the remains of Ascaris parasites in the form of tissue fragments were extracted. We also aim to discuss the prevalence of ascariasis in children, the causes of migration of Ascaris parasites into the bile ducts, together with its clinical manifestations, as well as the diagnostic and treatment methods of this disease.

Since October 2022, alerts have spread from several countries about the increase in invasive group A streptococcal (iGAS) and scarlet fever cases affecting young children. We aim to analyze the epidemiology of GAS infections in the last 12 years in our hospital and identify the clinical features of invasive cases observed in 2023. We conducted a retrospective study enrolling children and adolescents hospitalized at our pediatric clinic from January to December 2023 for a definitive diagnosis of iGAS infection. Clinical, laboratory, and imaging data were collected and analyzed. Comparing 2016 and 2023, we observed a similar number of GAS infections (65 vs. 60 cases). Five children with iGAS infection were hospitalized between March and April 2023. The median age was five years. At admission, all patients showed tachycardia disproportionate to their body temperature. Vomiting was a recurrent symptom (80%). Laboratory tests mostly showed lymphopenia, hyponatremia, and high inflammatory markers. The number of pediatric iGAS cases significantly increased in 2023. Clinical (pre-school-aged children with high fever, unexplained tachycardia, and vomiting) and laboratory parameters (high procalcitonin levels, hyponatremia, and lymphopenia) could help identify and suspect a potential iGAS infection.

We present a case involving a patient whose clinical phenotype aligns with oculocutaneous albinism (OCA), yet exhibits a complex genotype primarily characterized by variants of unknown significance (VUS). An 11-year-old boy manifested iris hypopigmentation and translucency, pronounced photophobia, diminished visual acuity and stereopsis, nystagmus, reduced pigmentation of the retina, and foveal hypoplasia. Genetic testing was performed. A heterozygous missense VUS CAPN5 c.230A>G, p.(Gln77Arg), a heterozygous missense VUS TYR c.1307G>C, p.(Gly436Ala), and a heterozygous missense variant TYR c.1205G>A, p.(Arg402Gln) which was classified as a risk factor, were identified. We hypothesized that the TYR c.1307G>C, p.(Gly436Ala) variant is in genetic disequilibrium with the TYR c.1205G>A, p.(Arg402Gln) variant leading to deficient expression of melanogenic enzymes in retinal cells, resulting in the manifestation of mild OCA. Additionally, this study represents the case where we did not detect chiasmal misrouting in visual evoked potentials, nor did we observe a shift in the distribution of ganglion cell thickness from a temporal to a central position. Moreover, our patient\'s case supports the probable benign nature of the CAPN5 c.230A>G, p.(Gln77Arg) variant.