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1.
Clin Case Rep ; 11(11): e8111, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38028102

RESUMO

We reported herein a case of isolated cerebral actinomycosis in a 54-year-old immunocompetent man. Brain MRI showed a left frontal intra-axial lesion and perilesional edema. We performed an open biopsy of the left frontal enhancing lesion. Intraoperative findings showed a yellowish, malleable, and capsulated lesion that was well defined with surrounding normal tissue within pus inside and lacked any necrotic content. MR spectroscopy showed a high level of choline, lactate, and lipid peaks with a choline/N-Acetylaspartic acid ratio of 1.8. The diagnosis was confirmed histologically, and the patient was treated successfully for 3 months after surgical aspiration. Surgical management allowed to confirm the diagnosis with a shorten antibiotics, a rapid resolution of symptoms, and a complete recovery.

2.
Front Oncol ; 13: 1195814, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37664053

RESUMO

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.

3.
Surg Neurol Int ; 13: 38, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35242404

RESUMO

BACKGROUND: Spinal angiolipomas are rare benign tumors composed of mature adipose tissue and anomalous vascular channels. The sacral localization is extremely rare. To the best of our knowledge, there have been only two cases reported in the literature. Herein, we present an additional case of sacral angiolipoma. CASE DESCRIPTION: We present a case of a 54-year-old woman who presented with the right lumbosciatica and distal crural weakness. Spinal MRI showed an epidural lesion at the level of L5-S1 extending to the first right sacral foramen. The patient had total resection of the tumor and the histological study concluded to an angiolipoma. The patients' neurologic symptoms improved postoperatively and follow-up revealed no signs of tumor recurrence. CONCLUSION: Despite the rarity of sacral localization in angiolipomas, it is a diagnosis to be considered in the case of an epidural tumor with foraminal extension. Magnetic resonance imaging is important for detecting and characterizing spinal angiolipomas despite diagnosis is not always obvious. After surgical removal, the functional prognosis is generally favorable.

4.
Surg Neurol Int ; 11: 352, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33194285

RESUMO

BACKGROUND: Various hematological malignancies, including multiple myeloma, plasmacytoma, aggressive lymphoma, and indolent lymphoma, rarely result in spinal cord compression. METHODS: Here, we retrospectively analyzed 32 patients with multiple myeloma (50%), plasmacytoma (13%), aggressive lymphoma (28%), and indolent lymphoma (9%), resulting in spinal cord compression (2004 and 2016). Patients averaged 57 years of age and presented with the indolent onset of spinal cord compression (91% of cases) resulting mostly in motor deficits (69%). RESULTS: Local treatment modalities included radiotherapy (RT) (28%) alone, decompressive surgery (28%) alone, or decompressive surgery with consolidation RT (40%). The 1-year overall survival was 70%, and the progression-free survival frequency was 62%. CONCLUSION: This study highlighted the importance of standardizing the indications for RT alone versus RT with surgery depending on the patient's underlying pathological diagnosis, neurological deficits, and radiological findings.

5.
IDCases ; 22: e00996, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33204632

RESUMO

Candida spp. brain abscess is scare. Clinical presentation is unspecific. Diagnosis requires mycological culture of a puncture or biopsy specimen. Therapeutic management is based on prolonged course of azole or liposomal amphotericin B. We reported the case of Candida glabrata brain abscess in a 27 year-old female patient, with no past history and not secondary to candidemia. The fungus was isolated from a puncture of abscess with complete resection. The outcome was favorable under antifungal treatment by voriconazole.

6.
Int J Surg Case Rep ; 77: 527-530, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33395838

RESUMO

INTRODUCTION: Cervical synovial cysts are uncommon. They are most often responsible for a chronic clinical picture. Rarely, intracystic hemorrhage occurs, and may acutely present as radicular - or even spinal cord compression syndrome leading to irreversible neurological impairment. CASE: We reported a case of bleeding synovial cyst located in the cervico-thoracic spine causing spastic paraparesis in a 68-year-old male patient. MRI revealed narrowing of perimedullary subarachnoid space by a well circumscribed, extra-axial, homogeneous mass located posterolaterally to the right of the spinal cord at the level C7-T1. The cyst was removed thoroughly by laminectomy. Pathological findings were consistent with the diagnosis of hemorrhagic synovial cyst. The patient had an excellent recovery. DISCUSSION: Synovial cysts of the spine are rare and usually asymptomatic. It is extremely rare for intracystic bleeding to occur and be responsible for an abrupt presentation. Diagnosis of spinal synovial cyst relies on MRI but may not be evident as it depends on consistency and density of the cystic fluid. Surgery remains the best therapeutic alternative, especially in the case of neurological impairment. CONCLUSION: Surgery should be considered for any cervical synovial cyst. This is motivated by the risk, although rare, of bleeding and the resulting irreversible neurological damage that may occur.

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