A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases.

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).

Right-Sided Fourth Branchial Cleft Cyst in a Neonate: A Case Report and Literature Review.

Anomalies of the fourth branchial cleft are exceedingly uncommon, presenting with a diverse array of clinical manifestations. The majority of branchial cleft anomalies, approximately 95%, are of the second type, with a mere 2% attributed to the fourth type. The latter is notably more prevalent on the left side, with reports indicating an 85% incidence.

A Large Sigmoid Pseudo-Pedunculated Lipoma Mimicking an Adenoma: A Report of a Rare Case and Literature Review.

Large colonic lipomas exceeding 2.0 cm in size may rarely mimic colorectal adenomas and hence we referred to such lipomas as pseudo-pedunculated lipomas. They can exhibit surface erosions, fissure ulcerations, and mucosal erythema and can pose diagnostic dilemmas during colonoscopy.