Popcorn in the Brain: A Case of Familial Multiple Cavernous Malformation / Magyar Tibor [et al.]
Bibliogr.: p. 43. - Abstr. eng.
In: Hungarian Pediatrics. - ISSN 3004-0272. - 2023. 1. évf. 1. sz., p. 39-43. : ill.
Introduction: Cerebral cavernous mallormation (CCM) is a type of hamartomatous, cystically dilated, thin-walled, sinusoidal vascular lesion that accounts for 5-13% of cerebral vascular malformations and has a prevalence ol 0.6% in the pediatric population. It occurs equally in both sexes and presents as sporadic or hereditary forms. CCMs are primarily located either supratentorially (85%) or infratentorially (15%), with spinal cord involvement being extremely rare. Clinical manifestations of CCM include a wide range of symptoms depending on the location. CCMs can range from being asymptomatic to causing rapidly progressive and potentially fatal hemorrhages. Recurrent intracranial hemonhage is a characteristic feature, especially in cases where the malformation is located in the brainstem. Diagnosis is based on cranial MRI with angiography, where the characteristic "popcorn" sign is seen on susceptibility weighted imaging (SWl) sequences. Management of cavernomas may include conservative or invasive approaches. Asymptomatic cases require long{erm neurological monitoring, while cases with progressive symptoms may require acute or delayed neurosurgical intervention. Minimally invasive techniques such as MR-guided focused ultrasound (MRgFUS), MR-guided laser interstitial thermal therapy (MRgLITT), or stereotactic radiosurgery (SRS) are currently under investigation. Case report: A 7-month-old female inlant with an uneventful perinatal history was admitted for loss of function in her left upper and lower extremities. 0f note, there was a familial history of cerebral cavernomas in her father and grandfather, both of whom had experienced symptomatic presentations of the condition. Neurological examination revealed left-sided hemiparesis. lnitial general laboratory tests were unremarkable, and there was no history of trauma, infection, or bleeding disorders. lnitial cranial and cervical MR angiography revealed multiple supratentorial cavernomas and a large pontine cavernoma measuring 12 mm in diameter with evidence ol acute hemorrhage and associated vasogenic edema. Notably, the susceptibility weighted imaging (SWl) sequence showed lhe characteristic "popcorn" sign, confirming the presence of cavernomas. Despite close monitoring and oral rehydration, the patient's neurological status continued to deteriorate. Subsequent cerebral MR scans showed progressive enlargement of the pontine cavernoma, possibly due to recurrent hemorrhage. Given the worsening clinical and radiological findings, acute neurosurgery was performed and histologic analysis conlirmed the diagnosis ol cerebral cavernoma. The patient is currently undergoing lurther neurorehabilitation and genetic testing is underway to assess the potential lor lamilial predisposition to the condition. Gonclusion: Cerebral cavernous malformations encompass a diverse range of vascular anomalies, demanding a multidisciplinary approach to effectively assess the potential for conservative and invasive treatments. Regular symptom-based reassessment, continuous vital sign monitoring, and recurring MRI examinations, especially in cases of progression, form the cornerstone of a successf ul therapeutic strategy. Kulcsszavak: familial cavernomatosis, hemorrhage, SWI sequence