Congenital hyperinsulinism: diagnostic and management challenges in a developing country – case report

Management of congenital hyperinsulinemia of infancy (CHI) is challenging. A 4-month-old female infant with persistent hypoglycemia and elevated insulin levels was diagnosed with CHI. Gallium-68 DOTANOC positron emission tomography/computed tomography (PET/CT) scan (⁶⁸Ga-labeled [1,4,7,10-tetraazacyclododecane-N,N’,N’’,N’’’-tetraacetic acid]-1-NaI3-octreotide) demonstrated focal disease in the body of the pancreas. Genetic studies indicated paternal inheritance, making focal disease likely. She was started on diazoxide therapy with partial improvement in blood glucose levels. Due to a suboptimal response to diazoxide and the likelihood of focal disease amenable to surgery, a laparoscopic subtotal pancreatectomy with preservation of the head of the pancreas was performed. The biopsy demonstrated diffuse hyperplastic pancreatic islet cells on immunohistochemistry, indicative of diffuse rather than focal disease. Paternal inheritance is a recognized indicator of focal disease. Gallium-68 DOTANOC PET/CT scan is the only available imaging modality in South India as ¹⁸F-L-dihydroxyphenylalanine (DOPA) PET/CT scan is not available at present. A laparoscopic approach reduces the postoperative recovery time and morbidity in such patients. The absence of ¹⁸F-L-DOPA PET/CT scan and the limited supply of diazoxide makes the management of this complex condition more challenging in developing countries.

Low-dose cyclosporine treatment for sight-threatening uveitis: Efficacy, toxicity, and tolerance.

Aim: To ascertain the effectiveness, tolerability, and safety of low-dose cyclosporine in the management of sight-threatening uveitis. Materials and Methods: This was a retrospective clinical case series of patients using oral low-dose cyclosporine for the management of sight-threatening uveitis in the uvea clinic (UC). Patients receiving cyclosporine were identified from the clinic database. Main outcome measures were degree of intraocular inflammation, visual acuity and dose reduction of oral steroid for effectiveness and adverse symptoms, systemic hypertension, and raised serum creatinine for tolerability and safety. Results: Intraocular inflammation was improved or stable in 97% of patients, visual acuity was improved or stable in 91%, and oral steroid dosage was reduced in 73% (by half or more in 51%). Adverse symptoms were almost universal, the commonest being peripheral paresthesia/burning in 70% and fatigue in 67%. Significant systemic hypertension developed in 27% and raised creatinine in 30%, necessitating dose reduction. Cyclosporine was discontinued in 35%, being intolerable in 20% and ineffective in 15%. Conclusions: Cyclosporine was found to be effective in reducing inflammation and protecting vision in sight-threatening uveitis. It was safe with proper monitoring, including in children. It had a significant toxicity profile and a high incidence of adverse symptoms which required close supervision, and a prompt dose reduction or drug exchange.

Autoimmune pancreatitis--an uncommon type of chronic pancreatitis.

Autoimmune pancreatitis is a recently recognized clinical entity characterized by narrow strictured main pancreatic duct on ERCP, diffusely enlarged sausage-shaped pancreas on CT scan and MRI, seropositivity for antinuclear antibodies, hypergammaglobulinemia, and excellent response to steroids. We report a 25-year-old man and a 53-year-old man with this condition.