Congenital pouch colon (CPC) is a rare congenital abnormality, in which a pouch-like dilatation partially or completely replaces the colon, creating a fistula with the urogenital. Congenital colonic pouch is an extremely rare congenital disease mainly reported in India, and to date there are no reported cases in Lebanon. In this paper, we present a case of full-term male neonate diagnosed with a congenital colon pouch in Lebanon. A full-term neonate presented with imperforate anus, abdominal distention, and vomiting. Diagnostic assessments revealed a well-encapsulated mass compressing the intestines and ureter. Surgical intervention identified a type I CPC with a meconium-filled pouch directly connected to the small intestine, and an absent ileocecal valve, prompting an ileostomy. Following the surgery, no postoperative complications were noted. Early imaging can help address the diagnosis to start the appropriate management, plan for surgery to prevent the development of a megacolon and therefore, perforation. The objective is to be aware and consider congenital colonic pouch diagnosis after encountering newborns with such clinical presentation in order to direct clinical investigations toward the diagnosis and treatment of the case early, thus reducing the risk of complications and improving the patient\'s quality of life.

UNASSIGNED: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients\' early childhood years.
UNASSIGNED: A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ2) was used and t-test for nonparametric variables.
UNASSIGNED: Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.
UNASSIGNED: We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.

Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.

Polydactyly is a common congenital malformation of the hand and foot characterized by an extra digit or duplication of digits. Polydactyly can present as preaxial, complex, or postaxial types. It has various presentations, and it can be an isolated anomaly or part of other diseases or syndromic conditions. Incidences are more common in European and Asian descent. The first line of treatment commonly practiced is surgery to create an aesthetically normal functioning hand. In this report, we present a case of bilateral hand polydactyly in a 2-year 6-month-old boy of Asian descent. No other abnormalities or malformations were observed elsewhere in his body. He is otherwise a healthy boy with no family history of malformations. The pattern is not consistent with any syndromic disease. He subsequently underwent surgical resection of the extra digits and a follow-up review showed normal function of the hands without contracture and other complications of the surgical site.

OBJECTIVE: To undertake a systematic review to assess the accuracy of fetal MRI in diagnosis of non-CNS congenital anomalies of the fetal body in comparison with antenatal ultrasound when correlated to postnatal diagnosis.
METHODS: Searches were conducted from electronic databases, key journals and reference lists for eligible papers. Inclusion criteria was original research studies comparing the diagnostic results of antenatal ultrasound, fetal MRI and final postnatal diagnosis via imaging, surgery or post-mortem testing. Studies of CNS anomalies were excluded. Studies were assessed for risk of bias by two reviewers working independently and data was then extracted by a single reviewer.
RESULTS: 12 studies were included with a total of 361 eligible patients who underwent USS and MRI and had a postnatal diagnosis. USS alone had a diagnostic accuracy of 60.6% whereas MRI had an improved diagnostic accuracy of 86.4%. The overall odds ratio was 0.86 (CI 0.202-1.519 and p-value < 0.01).
CONCLUSIONS: Fetal MRI makes a significant contribution to accurate diagnosis of congenital abnormalities of the fetal body; especially in genito-urinary anomalies. More research is needed to improve the evidence base for the role of fetal MRI in diagnosis of congenital anomalies in other body systems.

BACKGROUND: Tracheal agenesis, or tracheal atresia, is a rare congenital anomaly. The presence of a tracheoesophageal fistula (TEF) can help with breathing for newborns with tracheal agenesis. In this article, we presented three unique cases and outcomes of neonates with tracheal agenesis along with a review of the literature.
METHODS: This study consisted of a single center case series followed by a review of literature. Case reports were generated using both written and electronic medical records from a single hospital. We summarized three unique cases and outcomes of neonates with tracheal agenesis and performed a review of the literature.
RESULTS: We identified three cases of tracheal agenesis presented with severe cyanosis without spontaneous crying upon birth. Experienced pediatricians attempted to intubate the babies but were unsuccessful. Endotracheal tubes were subsequently either accidentally or purposely placed into the esophagus, and oxygen saturation levels improved. This suggested tracheal agenesis with TEF. Two cases underwent surgical intervention after resuscitation with esophageal intubation.
CONCLUSIONS: Esophageal intubation may be a life-sustaining ventilation support for patients with tracheal agenesis and TEF at initial resuscitation. Clinicians should suspect tracheal agenesis when a newborn presents with severe cyanosis and voiceless crying upon birth, and esophageal intubation should be immediately attempted.

BACKGROUND: Aphallia is a rare congenital anomaly often associated with other urogenital anomalies. The management of aphallia cases for both the immediate and long-term treatment of patients with aphallia pose a major dilemma. Patients are at risk for psychosocial and psychosexual challenges throughout life.
METHODS: A systematic review was conducted on aphallia cases. We searched online databases until March 2023 for relevant articles and performed according to the PRISMA-P guidelines.
RESULTS: Of the 43 articles screened, there were 33 articles included. A total of 41 patients were analyzed qualitatively. Asia is the region with the most aphallia cases with 53% (n:22), while the United States is the country with the most most reported aphallia cases 31% (n:13). Most cases were identified as male sex (n: 40), and most cases were neonate with 68% (n:28) cases. Physical examination generally found 85% (N = 35) with normal scrotal development and palpable testes. The most affected system with anomalies is the genitourinary system with fistulas in 80% (n:29) cases. Initial management in 39% (n:16) of patients involved vesicostomy. Further management of 31% (n:13) included phalloplasty or penile reconstruction, and 12% (n:5) chose female sex. 17% (n:7) of patients refused medical treatment or were lost to follow-up, and 12% (n = 5) patients deceased.
CONCLUSIONS: Aphallia is a rare condition and is often associated with other inherited genitourinary disorders. In most cases, physical examinations are normal except for the absence of a phallus, and laboratory testing shows normal results. The initial management typically involves the vesicostomy procedure. Subsequent management focuses on gender determination. Currently, male sex is preferred over female. Due to the significant variability, the rarity of cases, and the lack of long-term effect reporting in many studies on aphallia, further research is needed to minimize bias.

OBJECTIVE: To assess the diagnostic accuracy of two-dimensional ultrasound at 11-14 weeks\' gestation as a screening test for individual fetal anomalies and to identify factors impacting on screening performance.
METHODS: This was a systematic review and meta-analysis that was developed and registered with PROSPERO (CRD42018111781). MEDLINE, EMBASE, Web of Science Core Collection and the Cochrane Library were searched for studies evaluating the diagnostic accuracy of screening for 16 predefined, non-cardiac, congenital anomalies considered to be of interest to the early anomaly scan. We included prospective and retrospective studies from any healthcare setting conducted in low-risk, mixed-risk and unselected populations. The reference standard was the detection of an anomaly on postnatal or postmortem examination. Data were extracted to populate 2 × 2 tables and a random-effects model was used to determine the diagnostic accuracy of screening for the predefined anomalies (individually and as a composite). Secondary analyses were performed to determine the impact on detection rates of imaging protocol, type of ultrasound modality, publication year and index of sonographer suspicion at the time of scanning. Post-hoc secondary analysis was conducted to assess performance among studies published during or after 2010. Risk of bias assessment and quality assessment were undertaken for included studies using the Quality Assessment of Diagnostic Accuracy Studies-2 tool.
RESULTS: From 5684 citations, 202 papers underwent full-text review, resulting in the inclusion of 52 studies comprising 527 837 fetuses, of which 2399 were affected by one or more of the 16 predefined anomalies. Individual anomalies were not equally amenable to detection on first-trimester ultrasound: a high (> 80%) detection rate was reported for severe conditions, including acrania (98%), gastroschisis (96%), exomphalos (95%) and holoprosencephaly (88%); the detection rate was lower for open spina bifida (69%), lower urinary tract obstruction (66%), lethal skeletal dysplasias (57%) and limb-reduction defects (50%); and the detection rate was below 50% for facial clefts (43%), polydactyly (40%) and congenital diaphragmatic hernia (38%). Conditions with a low (< 30%) detection rate included bilateral renal agenesis (25%), closed spina bifida (21%), isolated cleft lip (14%) and talipes (11%). Specificity was > 99% for all anomalies. Secondary analysis showed that detection improved with advancing publication year, and that the use of imaging protocols had a statistically significant impact on screening performance (P < 0.0001).
CONCLUSIONS: The accurate detection of congenital anomalies using first-trimester ultrasound is feasible, although detection rates and false-positive rates depend on the type of anomaly. The use of a standardized protocol allows for diagnostic performance to be maximized, particularly for the detection of spina bifida, facial clefts and limb-reduction defects. Highlighting the types of anomalies amenable to diagnosis and determining factors enhancing screening performance can support the development of first-trimester anomaly screening programs. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

UNASSIGNED: Gastric duplication cyst (GDC) is a rare congenital anomaly of the gastrointestinal tract. Though GDC is often misdiagnosed, misidentification as an adrenal cyst has rarely been reported. Herein, we report a case of GDC in a young female mimicking an adrenal cyst.
UNASSIGNED: A 17-year-old female presented with chronic epigastric pain, nausea, and intermittent vomiting. Physical examinations revealed mild tenderness in the epigastric region. Esophagogastroduodenoscopy showed no abnormality. Ultrasound, contrast-enhanced computed tomography scan, and MRI of the abdomen and pelvis showed an oval-shaped left adrenal cystic lesion measuring 33 × 26 mm. Preoperative blood investigations and hormonal assessments were normal. Laparoscopy showed that the cyst originated from the greater curvature of the stomach. The left adrenal gland was normal. After an intraoperative consultation with a gastrointestinal surgeon, a wedge resection of the cyst was performed. Histopathology confirmed the gastric duplication cyst.
UNASSIGNED: GDCs are rare congenital malformations that may become symptomatic during adulthood. They can mimic adrenal cysts and lead to misdiagnosis.

Meckel\'s diverticulum, a congenital defect that affects about 2% of the population, is a remnant of the embryologic vitelline duct. Perforated Meckel\'s diverticulum, a rare consequence of an already rare disease process, frequently presents and is diagnosed as a perforated appendix. We report a case of a 28-year-old male who presented with a two-day history of right-sided lower abdominal pain associated with nausea. The abdominal examination revealed a soft, nondistended abdomen with tenderness in the right iliac fossa. A CT scan of the abdomen showed a normal appendix and inflammation of Meckel\'s diverticulum without any signs of perforation. Bowel exploration through a small midline incision indicated the presence of a highly inflamed Meckel\'s diverticulum with localized perforation 75 cm from the ileocecal valve. A resection of 15 cm of the small bowel and an end-to-end primary anastomosis were performed. The patient had an uncomplicated recovery and was discharged after a five-day admission to a surgical ward. This case report illustrates the significance of keeping Meckel\'s diverticulum as a differential diagnosis in all the patients who present with an acute abdomen.