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Surgical Neurology International 2021Low-grade gliomas (LGG) are described by the World Health Organization as Grades I and II. Among LGGs, the most common primary brain tumor is pilocytic astrocytoma (PA)...
BACKGROUND
Low-grade gliomas (LGG) are described by the World Health Organization as Grades I and II. Among LGGs, the most common primary brain tumor is pilocytic astrocytoma (PA) and carries an excellent prognosis when treated with complete surgical resection. Cases, in which this is not possible, are associated with less favorable outcomes and worse progression-free survival.
CASE DESCRIPTION
This report describes a case of a 22-year-old male, who presented with progression of a primary brainstem tumor previously treated with stereotactic radiosurgery and chemotherapy. Patient underwent surgical exploration and was diagnosed with juvenile PA, but debulking was limited by the very dense and fibrous tumor. Complete surgical resection was not possible at this time. Despite efforts to treat with chemotherapy, the patient presented a year later with clinical deterioration and severe neurologic deficits, prompting surgical re-exploration. During the second operation, the tumor was found to have undergone very significant softening in consistency, allowing for gross total resection (GTR).
CONCLUSION
Aggressive treatment of brainstem LGG should be pursued whenever possible, given its generally favorable prognosis. Repeat microsurgical resection, even with a different approach, might be reasonable and safe. Finally, chemotherapy may be associated with changes in the tumor consistency that can render previously unresectable lesions amenable to successful aggressive resection.
PubMed: 33500827
DOI: 10.25259/SNI_594_2020 -
Cureus Aug 2020We present a very rare case of chronic encapsulated intracerebral hematoma involving the septum pellucidum and the foramen of Monro that by location radiological...
We present a very rare case of chronic encapsulated intracerebral hematoma involving the septum pellucidum and the foramen of Monro that by location radiological appearance, and clinical history was mimicking a recurrent astrocytoma or a shunt-related foreign body granuloma. A young adult underwent the resection of a juvenile pilocytic astrocytoma as a child, and with a mass encasing the tip of an old non-functioning ventricular catheter, the differential diagnosis of shunt-related foreign body granuloma versus recurrent low-grade glioma was raised. Although chronic encapsulated intracerebral hematomas have been reported in the literature, the anatomical location of the lesion in the presented case was unique, with radiological and history findings also posing a peculiar diagnostic challenge. Chronic encapsulated intracerebral hematomas are benign entities that may also be found to involve deep and midline supra-tentorial structures usually not prone to spontaneous intraparenchymal hemorrhages. When symptomatic, surgical resection of the hematoma can be both diagnostic and curative.
PubMed: 32953346
DOI: 10.7759/cureus.9839 -
Orphanet Journal of Rare Diseases Jun 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient...
OBJECTIVE
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.
METHODS
A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples.
RESULTS
The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC.
CONCLUSION
This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.
Topics: Genetic Testing; Humans; Hypopigmentation; Infant; Male; Sirolimus; Tuberous Sclerosis; Xanthogranuloma, Juvenile
PubMed: 32532290
DOI: 10.1186/s13023-020-01396-7