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Subject: search.filters.subject.Vascular anomalies

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    MUSCLE HEMANGIOMATOSIS PRESENTING AS A SEVERE FEATURE IN A PATIENT WITH THE PTEN MUTATION: EXPANDING THE PHENOTYPE OF VASCULAR MALFORMATIONS IN BANNAYAN-RILEY-RUVALCABA SYNDROME
    (MACEDONIAN ACAD SCIENCES ARTS, 2012-01-01) Soysal, Y.; Acun, T.; Lourenco, C. M.; Marques Jr., W.; Yakicier, M. C.
    Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c. 1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.
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    Revisiting imaging features of rectosigmoid vascular malformation with emphasis on multiparametric MRI: a case report
    (SPRINGER, 2022-01-01) Erdemli, S.; Alis, D.; Cicek, B.; Goksel, S.; Karahasanoglu, T.; Karaarslan, E.
    Background: Gastrointestinal vascular malformations are rare benign vascular neoplasms of the gastrointestinal tract, with the rectosigmoid region being the most frequently involved site. Patients often manifest with recurrent, intermittent rectal bleeding, which might occasionally be life-threatening. Case presentation: A 39-year-old man with a history of hemorrhoid operations twice was presented to our gastroenterology department with blood in the stool and abdominal pain. After the colonoscopy, multiparametric MRI, and CT examinations, robotic low anterior resection was performed with the diagnosis of rectosigmoid venous malformation. The histopathological examination confirmed the diagnosis. Conclusion: Colonoscopy is the preferred method in diagnosing rectosigmoid vascular malformation, but wrong and delayed diagnoses are common.Thus, imaging modalities might add to colonoscopy in equivocal cases.