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1.
NMC Case Rep J ; 10: 303-308, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37953905

RESUMO

Hemorrhagic pilocytic astrocytomas (PAs) are rare, accounting for 1.1%-8.0% of all PA cases. They are reported to occur more frequently in older populations, with a male predominance. In this study, we report a case of a 14-year-old boy who presented with a headache, vertigo, and diplopia. As per his brain computed tomography scan, a small hematoma was observed in the left inferior cerebellar peduncle. Follow-up magnetic resonance imaging (MRI) revealed repeated minor bleeding from the lesion and mild expansion, with no neurological deficits. Four years later, the patient developed nausea, vomiting, and left abducens palsy. MRI revealed a mulberry-shaped mass surrounded by a hypointense rim, suggesting a cavernous angioma. The lesion was surgically resected via midline occipital craniotomy with the opening of the cerebellomedullary fissure. Histopathological examination of the lesion revealed PA. Next-generation sequencing analyses revealed that PAs harbored mutations in the ARID1A, ATM, and POLE genes but not in the BRAF gene. To the best of our knowledge, there are yet no reported studies on these mutations in PAs to date. Thus, PA should be considered in the differential diagnosis of cerebellar hemorrhage, especially in young adults and children..

2.
Surg Neurol Int ; 13: 461, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36324932

RESUMO

Background: Cerebrospinal fluid (CSF) leakage is a common complication of ventriculoperitoneal shunt (VPS) and has the potential to induce shunt infection. Especially in infants and children, these are serious complications. DuraGen is a collagen matrix dural substitute used to reduce the risk of CSF leakage in various neurosurgeries. We report our VPS procedure with DuraGen for preventing postoperative CSF leakage in patients aged <1 year. Methods: We used DuraGen to prevent postoperative CSF leakage in six VPS surgeries. Antibiotic-impregnated shunt catheters and programmable valves with anti-siphon devices were also used in all cases. DuraGen was placed inside and atop the burr hole. All cases had an initial shunt pressure of 5 cmH2O. Fibrin glue was not used. Results: The patients underwent follow-up for a year after VPS surgery. There was no postoperative subcutaneous CSF collection or leakage after all six VPS surgeries. Furthermore, no postoperative shunt infections or DuraGen-induced adverse events were noted. Conclusion: We speculate that DuraGen has a preventive effect on postoperative CSF leakage in VPS cases aged <1 year.

3.
NMC Case Rep J ; 8(1): 405-411, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35079496

RESUMO

Behçet's disease (BD) is a rare chronic inflammatory disease associated with systemic vasculitis. Involvement of the nervous system in BD is called neuro-BD (NBD). Epilepsy related to NBD is uncommon but responds well to anti-epileptic drugs. We present a case of NBD with drug-resistant mesial temporal lobe epilepsy (MTLE) due to hippocampal sclerosis (HS). The patient presented with headache, dizziness, disorientation, and generalized seizures. Magnetic resonance imaging (MRI) identified pontine lesions. Chronic inflammation was suspected, and steroid pulse therapy improved his symptoms. He relapsed 1 year after onset and was diagnosed with NBD. MRI revealed bilateral mesial temporal lesions, with the right being edematous and the left atrophic. NBD was controlled by steroid and immunosuppressive medication. Three years after the onset of NBD, the patient suffered MTLE, and MRI suggested left hippocampal atrophy. His seizures became drug-resistant and surgical therapy was considered 12 years after NBD onset. Pre-surgical MRI clearly showed left HS. After evaluations, the patient had left anterior temporal lobectomy (ATL) 13 years after NBD onset under stable NBD. The patient was seizure-free for > 2 years after surgery. Surgery will be an effective treatment for drug-resistant MTLE with HS even in patients with NBD, of course the effects of surgical intervention should be considered.

4.
Pediatr Neurosurg ; 54(6): 419-423, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31597145

RESUMO

INTRODUCTION: Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with intellectual disabilities and various structural brain abnormalities. We present a case of 6q terminal deletion syndrome with unusual magnetic resonance imaging (MRI) findings in a neonate. CASE PRESENTATION: The neonate, who was prenatally diagnosed with dilation of both lateral ventricles, was born at 38 weeks of gestation. MRI demonstrated abnormal membranous structure continuing to the hypertrophic massa intermedia in the third ventricle that had obscured the cerebrospinal fluid pathway, causing hydrocephalus. G-band analysis revealed a terminal deletion of 6q with the karyotype 46, XY, add(6)(q25.3) or del(6)(q26). He underwent ventriculoperitoneal shunt successfully, and his head circumference has been stable. DISCUSSION/CONCLUSION: 6q terminal deletion impacts the molecular pathway, which is an essential intracellular signaling cascade inducing neurological proliferation, migration, and differentiation during neuronal development. In patients with hydrocephalus in association with hypertrophy of the massa intermedia, this chromosomal abnormality should be taken into consideration. This case may offer an insight into the pathogenesis of hydrocephalus in this rare chromosomal abnormality.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 6 , Hidrocefalia/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Humanos , Hidrocefalia/cirurgia , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Derivação Ventriculoperitoneal
5.
NMC Case Rep J ; 5(2): 57-60, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29725569

RESUMO

Acetabular fracture usually is related to high-energy traumatic injury or falls from heights and directly caused by seizures without trauma is extremely rare. We report a 71-years-old man who sustained a left acetabular fracture secondary to generalized seizure after clipping of an unruptured aneurysm without trauma and any risk for fracture. The patient had an aneurysm was arising from the bifurcation of the left internal carotid artery and the posterior communicating artery. After the clipping, the patient had three times tonic-clonic seizures for 1 min and resulted in an acetabular fracture. In our case, acetabular fracture might relate to expose of massive stress generated by strong muscle contraction. Acetabular fracture causes severe complication, such as pelvic hemorrhage and organ injury. Therefore, early recognition and diagnosis of such fracture and risk factor provide an opportunity to secure a better outcome.

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