Dataset Information

Seizure in isolated brain cryptococcoma: Case report and review of the literature.

ABSTRACT:

Background

Central nervous system (CNS) cryptococcosis is an invasive fungal infection predominantly seen among immunosuppressed patients causing meningitis or meningoencephalitis. Rarely, cryptococcosis can affect immunologically competent hosts with the formation of localized CNS granulomatous reaction, known as cryptococcoma. Common symptoms of CNS cryptococcoma are headaches, consciousness or mental changes, focal deficits, and cranial nerve dysfunction. Rarely, seizures are the only presenting symptom.

Case description

We report the case of an immunocompetent patient with a solitary CNS cryptococcoma presenting with a long history of non-responsive generalized seizure who has been successfully operated.

Conclusion

CNS cryptococcoma is a rare entity, and in immunocompetent patients, its diagnosis can be challenging. The pathophysiology of lesion-related seizure is discussed along with a review of the pertinent literature.

SUBMITTER: Brunasso L

PROVIDER: S-EPMC8088491 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Publications

Seizure in isolated brain cryptococcoma: Case report and review of the literature.

Brunasso Laura L Costanzo Roberta R Cascio Antonio A Florena Ada A Sparacia Gianvincenzo G Iacopino Domenico Gerardo DG Grasso Giovanni G

Surgical neurology international 20210414

<h4>Background</h4>Central nervous system (CNS) cryptococcosis is an invasive fungal infection predominantly seen among immunosuppressed patients causing meningitis or meningoencephalitis. Rarely, cryptococcosis can affect immunologically competent hosts with the formation of localized CNS granulomatous reaction, known as cryptococcoma. Common symptoms of CNS cryptococcoma are headaches, consciousness or mental changes, focal deficits, and cranial nerve dysfunction. Rarely, seizures are the only ...[more]

PMID: 33948323

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Project description:BackgroundIntestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years.Case presentationWe describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative.ConclusionsOnly few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.

Project description:Background: One of the most serious complications of cranial radiotherapy is the development of radiation-induced glioma, which is estimated to occur in 1 to 4% of patients who have received cranial irradiation and has a worse prognosis than sporadic glioblastoma. To date, owing to its rarity, no standard of care has been established for radiation-induced glioma. Although comprehensive genetic analysis has recently uncovered the molecular characteristics of radiation-induced glioma, the full picture remains unclear, and the molecular features associated with treatment response and prognosis are poorly understood. Case presentation: A 45-year-old man presented with generalized seizures caused by multiple brain tumors involving the right frontal lobe, thalamus, and brainstem. The patient had a history of whole-brain radiotherapy for the recurrence of Burkitt's lymphoma at the age of 12. He underwent craniotomy, and the histological diagnosis was a high-grade glioma with isocitrate dehydrogenase-wildtype, which was presumed to be a radiation-induced glioma that developed 33 years after whole-brain irradiation. The Heidelberg DNA-methylation brain classifier most closely matched diffuse pediatric-type high-grade glioma, receptor tyrosine kinase-1 subtype, which is a typical methylation class of radiation-induced glioma. Methylation-specific polymerase chain reaction showed that the O6-methylguanine-DNA methyltransferase gene promoter was unmethylated. Next-generation sequencing identified CDKN2A/B deletion as well as co-amplification of several receptor tyrosine kinase-encoding genes including PDGFRA, KIT, and KDR, which are all located on chromosome 4q12. Amplification of this region is present broadly across cancers and is associated with a poor prognosis in sporadic glioblastoma. Nevertheless, the patient received conventional chemoradiotherapy with temozolomide. Subsequent multimodal imaging with magnetic resonance imaging and 11C-methionine positron emission tomography revealed complete remission of all lesions. Two years later, the patient is currently alive with a favorable performance status. Conclusions: Despite radiation-induced glioma with molecular features suggestive of an aggressive phenotype, our patient unexpectedly responded well to conventional chemoradiotherapy, resulting in complete remission that is exceptional in sporadic glioblastoma. Our case indicates that some of the radiation-induced gliomas may have distinct molecular characteristics involved in the therapeutic response that differ from those of sporadic glioblastomas.

Dataset Information

Seizure in isolated brain cryptococcoma: Case report and review of the literature.

Background

Case description

Conclusion

Publications

Seizure in isolated brain cryptococcoma: Case report and review of the literature.

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