Schwannomatosis del nervio plantar interno. Presentación de caso / Schwannomatosis of the internal plantar nerve. Case presentation

Introducción: Las Schwannomatosis Mononeurales de los Miembros son entidades muy poco frecuentes, escasamente conocidas y raramente publicadas en la bibliografía internacional, éstas se encuentran caracterizadas por la existencia de múltiples formaciones nodulares o plexiformes con compromiso exclusivo de un solo nervio, todas con diagnóstico patológico de schwannoma, excluyéndose a otras entidades tumorales y fuera del contexto de una neurofibromatosis. Aquí se presenta un caso con compromiso del nervio plantar medial o interno. Material y método: Se evaluó y analizo el caso clínico, a nivel semiológico y Neurorradiológico, Neurofisilógico. Se definió la conducta terapéutica y quirúrgica. Se evaluaron resultados mediante: análisis semiológico y seguimiento con imágenes. Descripción y resultados: Paciente sexo masculino de 45 años de edad consulta por presentar múltiples tumoraciones palpables en región retromaleolar interna y plantar derecho y disestesias al apoyo, con antecedente de cirugía de schwannoma plantar. Al examen neurológico: masas palpables en los sectores previamente indicados y Tinel a nivel retromaleolar interno y plantar. RMN: múltiples nódulos con captación intermedia de contraste, hipertensos en T2.Se practicó resección quirúrgica mediante amplio abordaje, se identificaron múltiples nódulos, uno de ellos de aspecto plexiforme que involucraba la totalidad del nervio plantar interno imposibilitando la preservación del tronco por lo cual se practicó microneurorrafia con interposición de puente de safeno interno. Discusión y conclusión: Las Schwannomatosis Mononeurales de los Miembros son entidades extremadamente raras, se han reportado con una frecuencia un poco mayor a aquellas que involucran a los nervios mediano y cubital, en sus características macroscópicas las lesiones fueron publicadas como pertenecientes a la variante nodular para esa escasa mayoría. La configuración plexiforme de los schwannomas es menos frecuente que la nodular per se y, en general. está asociada a troncos menores, fuera de estos territorios, su rareza es extrema. Este caso clínico resulta aún más especial por tratarse de una Schwannomatosis Mononeural del Plantar Medial con variante de tipo mixto, es decir nodular con una masa plexiforme dominante. Esta entidad no la hemos encontrado en la bibliografía internacional.Por otro lado, la resección quirúrgica de estos tumores, cuando son nodulares es compatible con la preservación del tronco nervioso, sacrificando solamente, su fascículo de origen. Este caso, dada la configuración descripta del tumor principal, el cual involucraba la totalidad del tronco, se hizo imposible la preservación del nervio, para lo cual debió realizarse microneurorrafia con puente. Como consideración final, creemos que es de capital importancia la adecuada exploración y planificación pre e intraoperatoria de estos pacientes

Introduction: Mononeural Schwannomatosis located at limbs are very infrequent entities, the knowledge about its are very poor, and there are just a few publications related to them. This articles make reference multiple nodular or plexiform lesions with involvement oh only one nerve, every one whit diagnosis of schwannoma, excluding fibromatosis. In this article, we describe a patient with who suffered the involvement of multiples tumours with nodular and plexiform configuration. Material y method: The clinical case was analysed by different media, clinical, neuro physiological and by neuroimages. By this approaches were defined and evaluated the surgical outcomes and results. Clinical case: Male, 45 years old. Multiples tumours at plantar region. Tinel Sign with multiple palpable masses al retromaleolar sulcus and plantar region, plantar schwannoma operated on previously.RMN: multinodular configuration at level of medial plantar nerve, with intermediate contrast reinforcement.An extended approach was performed, from retromaleolar sulcus to medial aspect of the foot, and finishing inside the digital-plantar sulcus. Complete resection was performed, multiples nodulos were found, the bigger had a plexiform configuration, was imposible the preservation of the nerve trunk and the, the interposition of sural nerve was realized. With good evolution. Conclusions: For this very rare entities, the bigger frequency was reported et limbs.The most frequent locations was at medial nerve, second place occupied by the ulnar nerve, we didn't find on international literature a plexiform tumour inside the medial plantar nerve.On the other hand, we think that the complete resection for this tumours when are nodular, the complete resection with preservation of the main trunk, is feasible. Ehen the tumour has a plexiform pattern; complete resection is only feasible with trunk nerve resection and interposition of nerve graft

Recurred Segmental Schwannomatosis Without Neurofibromatosis Type 2

Schwannomas are the most common type of benign peripheral nerve sheath tumors. They typically present as a solitary lesion, but multiple schwannomas rarely occur in patients with neurofibromatosis type 2 (NF2), or patients without the other hallmarks of NF2. The latter is termed schwannomatosis. They most commonly occur in the head and neck involving the brachial plexus and spinal nerves. Although rarely found in the extremities, when these masses occur peripherally, they most commonly affect the sciatic, ulnar, and tibial nerve. It is reported that 2.4% to 5% of all patients undergoing schwannoma excision present as schwannomatosis. One-third of patients with schwannomatosis show tumors limited to a single extremity or segment of the spine and it is referred to as segmental schwannomatosis. We report a case of recurred segmental schwannomatosis of the posterior tibial nerve without features of NF2 after schwannoma excision.

Neurofibromatosis: part 2 – clinical management / Neurofibromatoses: parte 2 – manejo clínico

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A primeira parte desta diretriz abordou o diagnóstico diferencial das neurofibromatoses (NF): neurofibromatose do tipo 1 (NF1), neurofibromatose do tipo 2 (NF2) e schwannomatose (SCH). As NF compartilham algumas características, como a origem neural dos tumores e sinais cutâneos, e afetam cerca de 80 mil brasileiros. O aumento do conhecimento científico sobre as NF tem permitido melhor manejo clínico e redução da morbidade das complicações, resultando em melhor qualidade de vida para os pacientes com NF. A maioria dos médicos é capaz de realizar o diagnóstico das NF, mas a variedade de manifestações clínicas e a dificuldade de se prever o surgimento e a gravidade de complicações, torna o manejo da NF um desafio para o clínico e envolve diferentes especialistas para o tratamento adequado e aconselhamento genético, especialmente a NF2 e a SCH. O presente texto sugere algumas orientações para o acompanhamento dos portadores de NF, com ênfase na NF1.

Multiple Lower Extremity Mononeuropathies by Segmental Schwannomatosis: A Case Report

Schwannoma is an encapsulated nerve sheath tumor that is distinct from neurofibromatosis. It is defined as the occurrence of multiple schwannomas without any bilateral vestibular schwannomas. A 46-year-old man with multiple schwannomas involving peripheral nerves of the ipsilateral lower extremity presented with neurologic symptoms. Electrodiagnostic studies revealed multiple mononeuropathies involving the left sciatic, common peroneal, tibial, femoral and superior gluteal nerves. Histologic findings confirmed the diagnosis of schwannoma. We reported this rare case of segmental schwannomatosis that presented with neurologic symptoms including motor weakness, which was confirmed as multiple mononeuropathies by electrodiagnostic studies.

Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report

Schwannomas are the most common benign nerve sheath tumors originating in Schwann cells. With special conditions like neurofibromatosis type 2 or entity called schwannomatosis, patients develop multiple schwannomas. But in clinical setting, distinguishing schwannomatosis from neurofibromatosis type 2 is challengeable. We describe 58-year-old male who presented with severe neuropathic pain, from schwannomatosis featuring multiple schwannomas of spine and trunk, and underwent surgical treatment. We demonstrate his radiologic and clinical findings, and discuss about important clinical features of this condition. To confirm schwannomatosis, we performed brain magnetic resonance imaging, and took his familial history. Staged surgery was done for pathological confirmation and relief of the pain. Schwannomatosis and neurofibromatosis type 2 are similar but different disease. There are diagnostic hallmarks of these conditions, including familial history, pathology, and brain imaging. Because of different prognosis, the two diseases must be distinguished, so diagnostic tests that are mentioned above should be performed in caution.

Neurofibromatoses: part 1 diagnosis and differential diagnosis / Das neurofibromatoses: parte 1 diagnostico e diagnostico diferencial

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialists are able to make the differential diagnosis between NF and other diseases and to identify major NF complications. Nevertheless, due to its great variability in phenotype expression, progressive course, multiple organs involvement and unpredictable natural evolution, NF often requires the support of neurofibromatoses specialists for proper treatment and genetic counseling. This Part 1 offers step-by-step guidelines for NF differential diagnosis. Part 2 will present the NF clinical management.

Neurofibromatoses (NF) constituem um grupo de doenças genéticas com predisposição ao crescimento de múltiplos tumores: tipo 1 (NF1), tipo 2 (NF2) e schwannomatose (SCH). Estas doenças têm em comum a origem neural dos tumores e os sinais cutâneos. Afetam cerca de 80 mil brasileiros. O maior conhecimento científico sobre as NF tem permitido melhor manejo clínico, redução da morbidade das complicações e melhor qualidade de vida. Na maioria dos casos, os especialistas em neurologia, dermatologia, genética clínica, oncologia e medicina interna estão capacitados a realizar o diagnóstico diferencial e identificar suas principais complicações. Devido à sua variabilidade fenotípica, curso progressivo, multiplicidade de órgãos acometidos e evolução imprevisível, as NF frequentemente necessitam de especialistas em NF para o acompanhamento. A Parte 1 deste texto oferece orientações para o diagnóstico de cada tipo de NF e discute os diagnósticos diferenciais com outras doenças. A Parte 2 oferecerá orientações em relação ao manejo clínico das NF.

Multiple Schwannomas: Case Report

The authors report a rare case of multiple schwannomas associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. Magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas.

A Case of Multiple Schwannomas of the Trigeminal Nerves, Acoustic Nerves, Lower Cranial Nerves, Brachial Plexuses and Spinal Canal: Schwannomatosis or Neurofibromatosis?

In most cases, while schwannoma is sporadically manifested as a single benign neoplasm, the presence of multiple schwannomas in one patient is usually indicative of neurofibromatosis 2. However, several recent reports have suggested that schwannomatosis itself may also be a distinct clinical entity. This study examines an extremely rare case of probable schwannomatosis associated with intracranial, intraspinal and peripheral involvements. A 63-year-old woman presented with a seven-year history of palpable lumps on both sides of the supraclavicular area and hearing impairment in both ears. On physical examination, no skin manifestations were evident. Facial sensory change, deafness in the left ear and decreased gag reflex were revealed by neurological examination. Magnetic resonance imaging revealed multiple lesions of the trigeminal nerves, acoustic nerves, lower cranial nerves, spinal accessory nerve, brachial plexuses, and spinal nerves. Pathological examination of tumors from the bilateral brachial plexuses, the spinal nerve in the T8 spinal position and the neck mass revealed benign schwannomas. Following is this patient case report of multiple schwannomas presenting with no skin manifestations of neurofibromatosis.