DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report.

Chronic diarrhea in infants can stem from various etiologies, including congenital disorders affecting intestinal function. Here, we present a case of a one-year-old boy with persistent watery diarrhea, vomiting, and failure to thrive, ultimately diagnosed with DGAT1 deficiency through genetic testing. Despite initial investigations ruling out common causes like celiac disease, genetic analysis confirmed DGAT1 enteropathy. Management included intensive nutritional support and close monitoring, resulting in clinical improvement. This case underscores the importance of early genetic testing and tailored management in congenital enteropathies to prevent severe complications and improve patient outcomes.

IgG4-Related Retroperitoneal Fibrosis in a Patient With B-Cell Lymphoproliferative Disorder.

We report an interesting case of a 25-year-old male patient who presented with a complaint of pain in the abdomen for six months, which was not associated with any other symptom, the patient was diagnosed with IgG4-related retroperitoneal fibrosis (RF) via endoscopic ultrasound (EUS)-guided biopsy. He was prescribed steroids and proton pump inhibitors. Due to the limited presentation and rarity of RF, diagnosis of this disease requires extensive diligence and care. In this case report, we underscore the importance of considering the differential diagnosis of RF or Ormond's disease when a patient presents with vague symptoms of pain in the abdomen. According to our knowledge, this is the first case of IgG4-related RF in a patient with B-cell lymphoproliferative disorder reported from Pakistan.

An Idiopathic Sterile Thyroid Abscess in a Five-Year-Old Child.

We would like to share a case study of a five-year-old child who complained of a painful mass on the front of his neck, with a fever of 98°F. Sometimes thyroid abscesses may be overlooked due to their rarity and are lower down on our list of differential diagnoses. Neck ultrasonography confirmed our findings. A thorough analysis of the literature showed that causal bacteria are required for almost all abscesses. However, in our instance, the aspirated fluid culture revealed no growth, indicating that the abscess was sterile. When patients present with severe neck swelling, this case report emphasizes the significance of considering thyroid abscess as one of the differential diagnoses since early detection is critical to minimize the risk of complications.

A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.

Benign recurrent intrahepatic cholestasis is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice. The initial episode of benign recurrent intrahepatic cholestasis tends to occur within the first two decades of a patient's life. Episodes can occur unprompted but can often be precipitated by infections or pregnancy. We report an interesting case of a 13-year-old girl presented with recurrent intrahepatic cholestasis. The patient has a unique homozygous USP53 genetic mutation, the first patient to present with this mutation within the South Asian region. The patient was initially misdiagnosed as a case of autoimmune hepatitis, and when presenting to our set-up was diagnosed as a case of benign recurrent intrahepatic cholestasis. The patient has since been managed on medication and remains regular in follow-up, responding well to treatment.