Xie F, Zhao Q, Pan W, Zhang A, Li K
RATIONALE: Pheochromocytoma crises are very rarely seen in children. In this report, we present a case of the death related to occult pheochromocytoma crisis combined cerebral infarction. PATIENT CONCERNS: A 5-year-old boy has a 1-month history of polydipsia, polyuria, sweating, and weight loss of 2.5 kg. He was admitted to our hospital because of 1 week of anorexia, 2 days of vomiting, and 12 hours of convulsions and confusion. Magnetic resonance imaging of the brain and cervical spinal cord showed abnormal signals in the left parie-occipital lobe, medulla oblongata till C7 cervical vertebrae. DIAGNOSES: Based on patient's complaints and clinical appearance, provisional diagnosis of pheochromocytoma crisis complicated brainstem infarction was considered. INTERVENTIONS: Tracheal intubation, volume expansion, continuous infusion of dobutamine, and sedation reduce intracranial pressure. Chest compression was performed when the child suddenly developed sobbing respiration. OUTCOMES: The patient was dead. Congenital metabolic defects screening suggested mild ketonuria. Trio whole exon sequencing revealed a synonymous mutation of von Hippel-Lindau syndrome c.414 A > G in the decedent. Autopsy revealed pheochromocytoma, acute myocarditis, liquefaction necrosis of the medulla oblongata cerebral edema, and congestion. LESSONS: Early clinical symptoms of pheochromocytoma in children are not typical. It may induce serious complications and develop into a pheochromocytoma crisis and cause death without proper treatment.
04/01/2023
36595857
Medicine (
IF: 1.817 /
Quartile: )
WOS Cites:
SemanticScholar Cites: 0
SemanticScholar Citation Velocity: 0
SemanticScholar Influential Citation Count: 0
