A Case of Carney Complex with Pontine Glioma.
Gülümay Vural Topaktaş, Emrullah Arslan, Tayfun Çinleti et al.
✦ AI-curated · Sources linked
Case in brief
An 11-year-old girl with a history of pontine glioma treated with chemotherapy and radiotherapy in early childhood presented with weight gain and short stature. Examination showed multiple nevi around the mouth and nose, café-au-lait spots, and bilateral clinodactyly of the fourth toes. Genetic testing identified a novel pathogenic PRKAR1A variant, confirming Carney complex. Unsuppressed cortisol on high-dose dexamethasone suppression testing supported Cushing’s syndrome; after unilateral adrenalectomy, pathology confirmed primary pigmented nodular adrenocortical disease.
What made this case unusual
The report describes Carney complex in a child with a prior pontine glioma, alongside primary pigmented nodular adrenocortical disease and a novel pathogenic PRKAR1A variant.
Diagnostic / clinical pearl
In a child with suggestive pigmentary and physical features, weight gain, and short stature, consider Carney complex and assess for cortisol excess; genetic testing and adrenal pathology helped establish the diagnosis in this case.