RESUMEN
BACKGROUND: Pathologic laughter is inappropriate, involuntary, and unmotivated laughter episodes that may or may not be associated with mirth or amusement. Although associated with many diffuse brain pathologies, its association with intracranial focal mass lesions causing ventrolateral brainstem compression, like petroclival meningioma, is very rare. The exact pathophysiology of this interesting and unusual clinical symptom is unknown, but probably involves disinhibition and release of the so-called coordination center located in the upper brainstem due to compression by the tumor. CASE DESCRIPTION: A 26-year-old woman presented with recurrent episodes of inappropriate and involuntary laughter, which significantly affected her quality of life, for 2 years. These episodes did not resolve, and a magnetic resonance imaging of the brain showed a giant petroclival meningioma causing upper brainstem compression. Near-total excision of the tumor was done using an extended middle fossa approach. To our surprise, the pathologic laughter subsided immediately after surgery. CONCLUSIONS: Pathologic laughter may be the only symptom of a focal mass lesion causing ventrolateral upper brainstem compression, like petroclival meningioma, well before other neurological sign/symptoms appear. Tumors causing ventral brainstem compression must be ruled out before the patient is sent for a psychiatric evaluation.
Asunto(s)
Risa , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Adulto , Tronco Encefálico , Constricción Patológica/etiología , Constricción Patológica/cirugía , Femenino , Humanos , Neoplasias Meníngeas/complicaciones , Neoplasias Meníngeas/cirugía , Meningioma/complicaciones , Meningioma/cirugíaRESUMEN
Coenzyme A (CoA) is an essential cofactor of cellular metabolism that is involved in ~4% of cellular reactions. Its de novo production relies on five subsequent enzymatic steps, starting with the phosphorylation of vitamin B5. Pantothenate kinase 2 (PANK2) and coenzyme A synthase (COASY) catalyze the first and last steps of this pathway. Mutations in these genes lead to severe and progressive movement disorders, with neurodegeneration and iron accumulation in the basal ganglia, known as PANK2 and COASY proteinassociated neurodegeneration, respectively. Given the ubiquitous role of CoA in cellular metabolism, it is still not clear why patients carrying PANK2 and COASY mutations develop almost exclusively neurological symptoms. Important clues are the energetic profile of neural cells as well as the high levels of PANK2 expression in the brain; however, other features may contribute to this selective tissue vulnerability. Notably, when pank2 or coasy expression was suppressed in zebrafish evident perturbation of neuronal development was observed, as well as severe defects in vasculature formation. Supplementation of CoA to fish water prevented the appearance of the phenotype, thereby confirming the specific connection with the availability of the metabolic cofactor. The present study investigated the associations between PANK2 defects and angiogenesis in a mammalian setting, and revealed that PANK2 expression was required for normal angiogenetic properties of human umbilical vein endothelial cells.