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Nelson Wohllk - One of the best experts on this subject based on the ideXlab platform.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of Carney complex: case report.
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of carney complex : Case report
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:OBJECTIVE: Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. CLINICAL PRESENTATION: A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. INTERVENTION: We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. CONCLUSION: We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
Carmen A Carrasco - One of the best experts on this subject based on the ideXlab platform.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of Carney complex: case report.
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of carney complex : Case report
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:OBJECTIVE: Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. CLINICAL PRESENTATION: A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. INTERVENTION: We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. CONCLUSION: We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
Prashant Chittiboina - One of the best experts on this subject based on the ideXlab platform.
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Unilateral vestibular Schwannoma in a patient with Schwannomatosis in the absence of LZTR1 mutation.
Journal of neurosurgery, 2016Co-Authors: Gautam U. Mehta, Michael J. Feldman, Herui Wang, Dale Ding, Prashant ChittiboinaAbstract:The presence of vestibular Schwannomas has long been considered an exclusion criterion for the diagnosis of Schwannomatosis. Recently, 2 cases of vestibular Schwannoma were reported in patients with Schwannomatosis, leading to a revision of the diagnostic criteria for this genetic disorder. Overall, the relative infrequency of vestibular Schwannomas in Schwannomatosis is unexplained, and the genetics of this uncommon phenomenon have not been described. The authors report on a family with clinical manifestations consistent with Schwannomatosis, including 4 affected members, that was identified as having an affected member harboring a unilateral cerebellopontine angle mass with extension into the internal auditory canal. Radiologically, this mass was consistent with a vestibular Schwannoma and resulted in a symptomatic change in ipsilateral hearing (word recognition 86% at 52 dB) and increased latency of the wave I-V interval on auditory brainstem response testing. The patient was found to be negative for a germline mutation of NF2 and LZTR1, and her affected mother was found to harbor neither NF2 nor SMARCB1 mutations on genetic testing. Although vestibular Schwannomas have been classically considered to not occur in the setting of Schwannomatosis, this patient with Schwannomatosis and a vestibular Schwannoma further confirms that Schwannomas can occur on the vestibular nerve in this syndrome. Further, this is the first such case found to be negative for a mutation on the LZTR1 gene.
Youn Soo Jeon - One of the best experts on this subject based on the ideXlab platform.
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A Case of Renal Schwannoma
Korean Journal of Urology, 2012Co-Authors: Hee Jo Yang, Youn Soo JeonAbstract:Schwannomas are benign tumors that arise from the neural sheath of Schwann cells. Renal Schwannomas are extremely rare and are commonly misdiagnosed as renal cell carcinoma, which typically results in a radical nephrectomy. We present a case of a renal Schwannoma that mimics a renal pelvis tumor.
David Rojas-salazar - One of the best experts on this subject based on the ideXlab platform.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of Carney complex: case report.
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
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Melanotic nonpsammomatous trigeminal Schwannoma as the first manifestation of carney complex : Case report
Neurosurgery, 2006Co-Authors: Carmen A Carrasco, David Rojas-salazar, Renato Chiorino, Juan C Venega, Nelson WohllkAbstract:OBJECTIVE: Melanotic Schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical Schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic Schwannomas. Half of patients with such "psammomatous melanotic Schwannomas" have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1alpha regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial Schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic Schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic Schwannoma as the first manifestation of Carney complex. CLINICAL PRESENTATION: A 34-year-old woman presented with odontalgia, right V3 hypoesthesia, V2 paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. INTERVENTION: We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic Schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 x 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic Schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. CONCLUSION: We present the unusual case of a nonpsammomatous trigeminal melanotic Schwannoma associated with Carney complex, with confirmed PRKAR1A gene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic Schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.
