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1.
Clin Case Rep ; 12(4): e8776, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38623357

RESUMEN

Key Clinical Message: Osteoblastoma of the frontal sinus, although rare, can manifest with seizures and pneumocephalus, underscoring the importance of thorough evaluation and complete surgical excision to prevent serious complications and ensure optimal patient outcomes. Abstract: Osteoblastoma is an infrequent bone tumor, with origins typically in the vertebrae and long bones. While craniofacial involvement is rare, it may occur in regions such as the paranasal sinuses. We present a case of osteoblastoma located in the frontal sinus, an exceptionally uncommon site, resulting in seizures secondary to pneumocephalus. A 21-year-old male presented with a generalized tonic-clonic seizure and postictal confusion. Imaging studies revealed a well-defined lesion in the left frontal sinus causing cortical breach, destruction of the posterior wall, and pneumocephalus. A total surgical excision was performed through bifrontal craniotomy. Histopathological analysis confirmed the diagnosis of osteoblastoma. Postoperative recovery was uneventful, with a follow-up CT scan showing complete lesion excision. Osteoblastomas, especially in the cranial sinuses, are rare entities that may present asymptomatically but can lead to severe complications. The risk of recurrence underscores the importance of complete surgical resection for optimal patient outcomes.

2.
Childs Nerv Syst ; 2024 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-38316675

RESUMEN

BACKGROUND: Choroid plexus carcinomas (CPCs) are rare, aggressive grade 3 tumors of the central nervous system associated with Li-Fraumeni syndrome (LFS) in a notable percentage of cases due to TP53 germline mutations. Understanding the correlation between CPCs and LFS is crucial for tailored management strategies. However, distinguishing CPCs from benign choroid plexus papillomas (CPPs) remains challenging, relying largely on histologic features. This study aimed to explore the association between CPCs and LFS, emphasizing the impact of TP53 mutations on diagnosis, treatment, and clinical outcomes. MATERIALS AND METHODS: Scientific databases such as PubMed, Scopus, and Web of Science were systematically searched up to January 2024 using keywords related to CPCs, LFS, TP53 mutation, and central nervous system tumors. Selection criteria included studies investigating the link between CPCs and LFS, their management approaches, and genetic implications of TP53 mutations. Ten relevant studies were selected for analysis after screening titles, abstracts, and full-text articles. Data extraction focused on clinical, genetic, and management factors related to CPCs associated with LFS. RESULTS: The review highlighted the strong association (36%) between CPCs and LFS, primarily due to TP53 germline mutations. Studies emphasized the need for genetic testing in patients with CPCs, especially in pediatric cases, to identify LFS implications. Furthermore, the impact of TP53 mutations on treatment strategies was emphasized, recommending irradiation-sparing therapies due to inferior survival rates associated with radiotherapy in LFS patients with CPCs. Cases illustrated the challenges in diagnosing CPCs and the importance of immunohistochemistry and genetic testing for TP53 mutations. CONCLUSION: CPCs pose challenges in diagnosis and management, particularly in distinguishing them from benign tumors. The association with LFS, often due to TP53 germline mutations, underscores the importance of genetic testing for early detection and tailored treatment strategies. Irradiation-sparing therapies are recommended for LFS-associated CPCs to mitigate the risk of secondary malignancies. Comprehensive profiling of CPC patients, especially in pediatric cases, is crucial for early detection and management of potential secondary cancers associated with LFS.

3.
Int J Surg Pathol ; 32(3): 511-514, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-37487199

RESUMEN

Concurrent occurrence of schwannoma and meningiomas are rare, and are found especially in association with neurofibromatosis type 2 (NF2). Occurrence of mixed tumor without the aforementioned conditions is extremely rare. We present three cases of mixed tumor in different locations, including two with NF2 and one without NF2. We analyse the relationship of mixed tumor with NF2 and its clinical implications. Presence of mixed schwannoma-meningioma should prompt screening for NF2. Thus aids in early diagnosis of unsuspected NF2 cases. We observed that irrespective of different locations, cases with NF2 showed frequent recurrence of schwannoma as compared to case who did not fit in the existing clinical criteria for NF2. Collision tumor and thereby NF2 mutations indicates the prognosis and recurrence of the tumor, thereby guides in deciding the management.


Asunto(s)
Neoplasias Meníngeas , Meningioma , Mioepitelioma , Neurilemoma , Neurofibromatosis 2 , Humanos , Neurofibromatosis 2/complicaciones , Neurofibromatosis 2/diagnóstico , Neurofibromatosis 2/genética , Meningioma/complicaciones , Meningioma/diagnóstico , Meningioma/genética , Neoplasias Meníngeas/complicaciones , Neoplasias Meníngeas/diagnóstico , Neoplasias Meníngeas/genética , Neurilemoma/complicaciones , Neurilemoma/diagnóstico , Carcinogénesis , Transformación Celular Neoplásica
5.
Saudi J Anaesth ; 17(3): 434-436, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37601488

RESUMEN

Intra-arterial Melphalan injection is an emerging treatment for children with advanced retinoblastoma. The procedure, which is frequently performed under general endotracheal anesthesia, can be complicated by technical difficulty and cardiorespiratory instability, which the anesthesiologist should be aware of. We describe the anesthetic management and special concerns during super-selective intra-arterial Melphalan injection in an infant with advanced retinoblastoma.

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