Barrón-Balderas A, Aguirre-Salas LM, Robledo-Aceves M, Lona-Reyes JC, Cabrera-Arias SM

Language: Spanish
References: 10
Page: 30-33
PDF size: 915.20 Kb.

ABSTRACT

Introduction: Donohue syndrome (DS), also known as leprechaunism, is a rare autosomal recessive genetic condition caused by mutations in the insulin receptor gene (INSR) on chromosome 19p13.2. This syndrome is characterized by an absence of insulin receptors, leading to various clinical manifestations, including prenatal and postnatal growth retardation, overgrowth of soft tissues, and dysglycemia. The reported incidence is 1 in 4 million live births, with patients typically having a short life expectancy due to complications such as bronchopneumonia. Case report: we present the case of a 10-day-old female patient admitted to the hospital for seizures and abnormal blood glucose levels, with hypoglycemia ranging from 35-45 mg/dl and postprandial hyperglycemia up to 396 mg/dl. Born at 37.4 weeks of gestation with a weight of 1,700 grams, she exhibited physical features typical of DS. Genetic diagnosis confirmed a pathogenic variant in the INSR gene. Management included glucose solution rescues for hypoglycemia and insulin administration for hyperglycemia, later adjusted through a subcutaneous elastomeric infusion pump. The patient was discharged at four months of age, maintaining stable glucose levels with weekly follow-up. She passed away at one year and three months of age at home. Conclusions: the treatment of DS is complex and primarily palliative. Continuous feeding via orogastric tube and the use of an elastomeric insulin pump proved effective in controlling glucose fluctuations, improving the patient's quality of life. It is crucial for healthcare professionals to be trained in these techniques and devices to provide comprehensive and high-quality care, enabling outpatient management and prolonging the life expectancy of these patients.

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