Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature.

Alkaptonuria is an inborn error of metabolism inherited as an autosomal recessive disorder due to a mutation in the homogentisic acid dioxygenase gene. It occurs rarely (global prevalence of alkaptonuria is 1 in 100,000 to 250,000), and mainly affects the joints and connective tissue of the body due to deposition of homogentisic acid giving affected areas a blue-black discoloration (ochronosis).In this case report, we present a male patient, aged 47 years, with joint and scleral involvement. He had been diagnosed many years ago with the disease by gas chromatography. His symptoms kept progressively worsening since he was recently prescribed physiotherapy and vitamin C for his disease, which has not been shown to be an effective treatment. A main reason for his disease deterioration was also the lack of nitisinone availability in his home country, as well as in the subcontinent region generally. We also presen a summary of some previously reported cases and treatment regimens to compare our case and present the comparison as a learning source for future physicians.

Congenital diaphragmatic hernia in patient with 1p36 deletion.

Key Clinical Message: This case underscores the atypical presentation of late-onset congenital diaphragmatic hernia in a 9-old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention. Abstract: Congenital Diaphragmatic Hernia (CDH) is a condition characterized by the protrusion of abdominal contents into the thoracic cavity due to a defect in the diaphragm. While typically observed in the neonatal period, CDH can present in later life. This case report describes the presentation, diagnosis, and management of a nine-year-old boy with 1p36 deletion syndrome who presented with respiratory distress, abdominal pain, vomiting, and anorexia. The initial diagnosis was tension pneumothorax, and thus the patient underwent chest tube placement. However, a high-resolution CT scan revealed a left hemidiaphragmatic hernia, and the patient eventually underwent an emergency laparotomy due to acute-onset respiratory distress. Intraoperatively, a diagnosis of Bochdalek hernia with gastric perforation was made, and the CDH and gastric perforations were resolved successfully. This case highlights the importance of considering late-presenting CDH as a possible diagnosis in pediatric patients with similar symptoms and the radiological findings suggestive of tension pneumothorax. Early recognition and prompt surgical intervention can lead to successful management of such cases.