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Published on: June 18, 2021
A boy with sudden headache
Stefania Norbedo1, Samuele Naviglio, Flora Maria Murru
1From the *Institute for Maternal and Child Health IRCCS "Burlo Garofolo;" and †Azienda Ospedaliero-Universitaria, University of Trieste, Trieste, Italy.
Insights
A rare abdominal tumor caused a teen
Area of Science:
- Pediatric Emergency Medicine
- Pediatric Endocrinology
- Clinical Genetics
Background:
- Headache is a frequent reason for pediatric emergency department visits.
- Emergent evaluation aims to detect serious, life-threatening conditions in children.
- Identifying "red flag" symptoms is crucial for accurate diagnosis.
Observation:
- An adolescent male presented with headache and hypertension.
- Diagnostic workup revealed a catecholamine-secreting abdominal paraganglioma.
- Subsequent genetic testing identified SDHB-related hereditary paraganglioma-pheochromocytoma syndrome.
Findings:
- Paragangliomas can manifest with non-specific symptoms like headache and hypertension in adolescents.
- Genetic testing is essential for diagnosing hereditary syndromes associated with paragangliomas.
- SDHB mutations are linked to hereditary paraganglioma-pheochromocytoma syndrome.
Implications:
- This case highlights the importance of considering rare diagnoses in pediatric headache presentations.
- Recognizing alarm features can expedite diagnosis and treatment of serious conditions.
- Genetic counseling and testing are indicated for patients with suspected hereditary paraganglioma-pheochromocytoma syndrome.
Abstract:
Headache is a common presenting complaint in pediatric emergency departments. The goal of emergent evaluation is to identify those children with potentially life-threatening conditions. We present the case of an adolescent boy presenting with headache and hypertension who was diagnosed with a catecholamine-secreting abdominal paraganglioma. Genetic testing eventually led to the diagnosis of SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Alarm features ("red flags") in children presenting with headache are reviewed, as well as the main features of paragangliomas and the indications for genetic testing.
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