Abstract
Background Wolcott-Rallison syndrome (WRS) is a very rare autosomal recessive disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Fewer than 60 cases have been reported to date. Most patients are from consanguineous families. Prevalence may therefore vary significantly between countries. WRS may be underdiagnosed because of early death before diagnosis.
Case Report(s) We present a case of an 8-month-old girl, a product of consanguineous parents from Pakistan, who has been diagnosed with a rare genetic condition i.e., Wolcott Rallison syndrome. She presented for the first time at the age of 3 months with a history of fever, cough, and difficulty breathing for 2 days. On examination, she was tachypneic and had acidotic breathing. In addition, she had syndromic facies in the form of microcephaly and a depressed nasal bridge. Her investigations were consistent with diabetic ketoacidosis (DKA) so she was managed as DKA. During her hospital stay, she also had a few episodes of seizures which were managed accordingly. After the resolution of DKA, she was switched to a subcutaneous insulin regimen. Meanwhile, she was followed in OPD, and her parents were counseled for the genetic workup of monogenic diabetes although her Islet cell antibodies were weak positive while the rest were negative. A skeletal survey was also done. She was not achieving her developmental milestones according to age. Her genetic workup revealed a homozygous nonsense mutation (c.3193C>T,p.Ag1065Ter) in the EIF2AK3 gene, which represents Wolcott Rallison syndrome. The management of this disorder includes close therapeutic monitoring of diabetes and treatment with an insulin pump, especially in the first months of life, due to the risk of acute episodes of hypoglycemia. The patient with WRS needs frequent checkups to monitor kidney and liver function, adjust insulin treatment, and follow-ups by a multidisciplinary team of specialists.
Conclusion(s) In conclusion, this case report highlights the significance of genetic workup and the importance of considering WRS in patients with early-onset diabetes, especially those below 6 months of age. Although, in a resource-limited country like Pakistan, it is very difficult to get the genetic workup of a child due to the financial burden on the family and poverty, it is the key to the diagnosis of monogenic diabetes. Early diagnosis and treatment improve the overall outcome of the disease.
