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.

Related Concept Videos

Increased Intracranial Pressure l: Introduction01:14

Increased Intracranial Pressure l: Introduction

Intracranial hypertension is a sustained elevation of intracranial pressure (ICP) above 22 mm Hg. In supine adults, normal ICP is ~7–15 mm Hg.The rigid, nonexpandable cranium contains three components—brain tissue, blood, and cerebrospinal fluid (CSF)—that total ~1,700 mL in a typical adult: 1,400 mL brain (~80%), 150 mL blood (~10%), and 150 mL CSF (~10%). According to the Monro–Kellie doctrine, total intracranial volume is effectively fixed. When one component...
27
Seizures l: Introduction01:20

Seizures l: Introduction

Understanding seizures and epilepsy relies on key definitions that help in recognizing, classifying, and managing these disorders. These definitions provide a framework for recognizing, classifying, and managing seizure disorders.DefinitionsA seizure is a sudden, abnormal burst of electrical activity in the brain that can cause changes in awareness, movement, sensation, or behavior, depending on the area involved. Epilepsy is a chronic condition characterized by recurrent, unprovoked seizures,...
42
Hemorrhagic Stroke l: Introduction01:17

Hemorrhagic Stroke l: Introduction

A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
20
Transient Ischemic Attack l: Introduction01:26

Transient Ischemic Attack l: Introduction

A transient ischemic attack (TIA) is a brief episode of neurological dysfunction caused by a temporary, focal reduction in cerebral blood flow. Although symptoms resemble those of an ischemic stroke, the interruption in perfusion is short-lived and does not cause permanent infarction. TIAs are clinically important because they often serve as early warning events for future stroke.Mechanisms of Transient Cerebral IschemiaTransient cerebral ischemia may arise through several mechanisms. One...
18
Brain Abscess l: Introduction01:26

Brain Abscess l: Introduction

A brain abscess is a focal, intracerebral infection characterized by a localized collection of pus within the brain parenchyma, resulting from microbial invasion and the body’s inflammatory response. It progresses through stages: early and late cerebritis, followed by early and late capsule formation, reflecting tissue destruction, immune response, and eventual encapsulation.Etiology and PathogenesisCausative organisms vary with source and host factors, often involving polymicrobial...
21
Traumatic Brain Injury l: Introduction01:28

Traumatic Brain Injury l: Introduction

DefinitionTraumatic brain injury, or TBI, is a disturbance of normal brain function induced by an external mechanical force, such as a direct blow to the head or a penetrating injury. It can affect both brain structure and function, producing a wide range of clinical outcomes. TBI is a heterogeneous condition, meaning its effects may differ based on the type, location, and severity of the injury.Basis of ClassificationTBI is classified based on severity, injury mechanism, or pathophysiology. In...
25