Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient. | LitMetric
Vascular malformations are being increasingly identified with associated syndromes caused by sporadically occurring, non-heritable somatic mutations. CLOVES syndrome is a newly recognized constellation of congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal/spinal anomalies. We report the unique case of CLOVES syndrome diagnosed in a pediatric patient five years after the initial surgical resection of an extensive venolymphatic malformation involving the chest, neck, axilla, and posterior trunk. The lipomatous overgrowths were successfully resected, and subsequent genetic analysis revealed a heterozygous, pathogenic, somatic variant in the PIK3CA gene, confirming our suspicion of CLOVES syndrome.
Pure acute subdural hematoma (ASDH) is an uncommon clinical presentation of ruptured intracranial aneurysms, and only rarely, the culprit is a cortical microaneurysm.Mortality can be high; thus, appropriate diagnosis and treatment are crucial. Due to its extreme rarity, there are no available guidelines.
Background: Cerebral arteriovenous malformations (AVMs) are intricate vascular anomalies that disrupt normal cerebral blood flow, potentially leading to severe neurological complications. Although the pathology of AVMs is not fully understood, epigenetic mechanisms have been implicated in their formation.
Methods: Transcriptional differences between cerebral AVMs and normal tissues were analyzed using RNA sequencing (RNA-seq), identifying IGF2BP2 as a key differentially expressed gene.
Introduction: Klippel-Trenaunay Syndrome (KTS) is a rare congenital condition characterized by vascular malformations, bone abnormalities, and limb overgrowth. The genetic basis of KTS is not fully understood, and the diagnosis relies on clinical features. Its clinical spectrum includes several neurosurgical diagnoses, such as cavernous hemangiomas, arteriovenous fistulas, and Chiari I malformation.
This case report highlights a rare complication of arthroscopic meniscal tear which is an arteriovenous fistula and pseudoaneurysm of the superior medial geniculate artery. A 14-year-old male patient presented with persistent hemarthrosis following arthroscopic repair of a bucket handle medial meniscal tear. The patient was investigated due to suspicion of vascular damage.
