ABSTRACT
Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.
ABSTRACT
Desmoplastic fibroma (DF) is a non-metastatic primary bone tumor that is extremely rare with local aggressive behavior. To the best of our knowledge, only few cases were published discussing this type of tumor and its management. This case report aimed to discuss a novel case as well as its management scheme. We present a case of a 36-year-old male with DF lesion involving the proximal tibial who underwent an extended curettage, triple type of adjuvant thereby, and internal fixation.
ABSTRACT
Salmonella infection is an international public health concern. Salmonella organisms are Gram-negative bacilli that belong to the family Enterobacteriaceae, and more than 2500 Salmonella serovars have been described. The most common clinical presentations of Salmonella infection are gastroenteritis, bacteremia, enteric fever, and chronic carrier state. Other rare extraintestinal infections include cellulitis, urinary tract infection, pneumonia, endocarditis, meningitis, brain abscess, and osteomyelitis. Salmonella species resistant to first-line treatment such as ampicillin, chloramphenicol, and trimethoprim-sulfamethoxazole are referred to as multi-drug resistant. In recent years, extensively drug-resistant (XDR) Salmonella have appeared in Pakistan; XDR strains are resistant to multiple antibiotics, including first-line antibiotics, fluoroquinolones, and third-generation cephalosporins. We report two interesting pediatric cases who presented with uncommon Salmonella infection. The first case is a child diagnosed with XDR typhoid fever in a country where the strain is not endemic. The second case is a child who presented with a Salmonella urinary tract infection who is otherwise immunocompetent and has no apparent underlying structural abnormalities of the urinary tract.
