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1.
BMC Med Genet ; 21(1): 96, 2020 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-32381069

RESUMO

BACKGROUND: Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype. CASE PRESENTATION: Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. From age 11 years seizures developed and after few years became increasingly difficult to treat, also related to inadequate compliance to therapy. He died at 23 years of sudden unexpected death in epilepsy (SUDEP). The genetic diagnosis remained elusive for many years, despite extensive genetic testing. We reached the genetic diagnosis by performing whole genome sequencing of the family trio and analyzing the data with the combination of one analysis pipeline for single nucleotide variants (SNVs)/indels and one for structural variants (SVs). This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported. CONCLUSIONS: We describe for the first time ectopic neurohypophysis and SUDEP in JBTS23, expanding the phenotype of this condition and raising the attention on the possible severity of the epilepsy in this disease. We also highlight the diagnostic power of WGS, which efficiently detects SNVs/indels and in addition allows the identification of SVs.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ciclo Celular/genética , Cerebelo/anormalidades , Morte Súbita/patologia , Epilepsia/genética , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Retina/anormalidades , Anormalidades Múltiplas/mortalidade , Anormalidades Múltiplas/patologia , Adulto , Cerebelo/patologia , Criança , Morte Súbita/epidemiologia , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/mortalidade , Deficiências do Desenvolvimento/patologia , Epilepsia/mortalidade , Epilepsia/patologia , Anormalidades do Olho/mortalidade , Anormalidades do Olho/patologia , Feminino , Heterozigoto , Humanos , Mutação INDEL , Doenças Renais Císticas/mortalidade , Doenças Renais Císticas/patologia , Masculino , Neuro-Hipófise/metabolismo , Neuro-Hipófise/patologia , Retina/patologia , Sequenciamento Completo do Genoma , Adulto Jovem
2.
Ann R Coll Surg Engl ; 102(4): e87-e88, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31964155

RESUMO

BACKGROUND: Pituicytoma is a rare; slow-growing primary tumour originating from the glial cells of the neurohypophysis. It was classed as a low-grade (grade I) central nervous system tumour by the World Health Organization in 2007. We present the case of a 71-year-old man with a previous history of sellar meningioma who underwent surgical resection of pituicytoma by transphenoidal hypophysectomy. METHOD: We conducted a literature search using Medline EMBASE and the Cochrane Database of Systematic Reviews using the Ovid search engines. Key words searched were 'pituitary gland', 'pituicytoma', 'neurohypophysis'. Patient records and imaging were obtained from the Royal Stoke University Hospital database. RESULTS: A 71-year-old man with a background of sellar meningioma 16 years previously was found to have a pituitary fossa tumour on surveillance magnetic resonance imaging. Differential diagnosis was pituitary adenoma. Endoscopic transphenoidal hypophysectomy was performed. Histology was consistent with pituicytoma. As a result of this histology from his initial tumour was re-examined and was amended to pituicytoma, indicating a recurrence. CONCLUSION: Pituicytoma is a benign, slow growing lesion of the posterior pituitary. Brat et al diagnosed it as a distinct entity in 2000 and it was listed as a World Health Organization classification grade I tumour in 2007. It can be mistaken for pituitary adenoma owing to its similar clinical presentation. Complete excision of the tumour by transphenoidal hypophysectomy is an effective management for pituicytoma as demonstrated in this case.


Assuntos
Meningioma/diagnóstico , Recidiva Local de Neoplasia/diagnóstico , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico , Idoso , Erros de Diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Meningioma/patologia , Meningioma/cirurgia , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/cirurgia , Neuro-Hipófise/diagnóstico por imagem , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Cirurgia Endoscópica Transanal , Resultado do Tratamento
3.
World Neurosurg ; 134: e968-e978, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31734425

RESUMO

OBJECTIVE: To evaluate and understand the clinical behavior and radiologic correlates of tumors originating from the posterior pituitary gland. To review the management strategy for these rare tumors and add to the limited existing literature. METHODS: Retrospective review of 8 cases (5 pituicytomas, 2 spindle cell oncocytomas, and 1 granular cell tumor) managed at our institution between 2004 and 2019. The patients' clinical course, histologic features, and radiologic findings were reviewed. Their management and long-term follow-up is presented and compared with the literature. RESULTS: Long-term follow-up ranged from 1 to 9 years. There was 1 recurrence in a patient with spindle cell oncocytoma, and this was treated with radiotherapy. The endoscopically managed cases resulted in complete tumor excision with no recurrence. CONCLUSIONS: Epidemiologic data on primary tumors of the neurohypophysis is limited because of the rarity of these tumors. This study adds to the literature that these tumors behave as World Health Organization grade I tumors, although close follow-up is recommended as a few cases have shown recurrence. The endoscopic approach resulted in better gross total tumor resection rate in this series.


Assuntos
Adenoma Oxífilo/patologia , Glioma/patologia , Tumor de Células Granulares/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adenoma Oxífilo/complicações , Adenoma Oxífilo/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Hemorragia Cerebral Intraventricular/etiologia , Procedimentos Cirúrgicos de Citorredução , Feminino , Glioma/complicações , Glioma/cirurgia , Tumor de Células Granulares/complicações , Tumor de Células Granulares/cirurgia , Hemianopsia/etiologia , Humanos , Hipogonadismo/etiologia , Achados Incidentais , Masculino , Microcirurgia , Pessoa de Meia-Idade , Neoplasia Residual , Neuroendoscopia , Neuro-Hipófise/citologia , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/cirurgia , Osso Esfenoide
4.
World Neurosurg ; 136: 78-82, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31874293

RESUMO

BACKGROUND: Pituicytoma is a rare neoplasm arising in the sellar region (World Health Organization grade I). Clinically, pituicytomas mimic nonfunctioning pituitary macroadenomas and are occasionally incidentally discovered at autopsy. Pituitary adenomas can occur with other sellar pathologies, and the term "collision sellar lesions" has been coined for this rare entity. There have only been a few reports of the coexistence of pituicytoma and pituitary adenoma. We present 2 cases of pituicytoma coexisting with acromegaly and Cushing disease. CASE DESCRIPTION: Case 1: A 29-year-old woman had acromegaly. The macroadenoma was partially removed in her first surgery; thus an endonasal reoperation was required for debulking and posterior radiosurgery. Pituicytoma coexisting with somatotropinoma was diagnosed on pathologic examination. Case 2: A 33-year-old woman had adrenocorticotropic hormone-dependent Cushing disease. She underwent endonasal resection. Undetectable postoperative cortisol levels provided evidence that the underlying adrenocorticotropic hormone source was successfully removed. On the basis of morphologic features and the immunohistochemical profile, pituicytoma was diagnosed on pathologic examination. Pituitary adenoma was not confirmed histologically in this patient. CONCLUSIONS: Only 117 cases of pituicytoma have been reported since it was first described in 1955. Before our report, only 5 cases of patients with pituicytoma coexisting with pituitary adenoma had been described. The coexistence of these 2 entities may not just be a mere coincidence but may be due to a yet unknown pathophysiologic link or common progenitor lineage of both lesions. Association between pituicytoma and pituitary adenoma is increasingly being reported.


Assuntos
Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Neoplasias Primárias Múltiplas/patologia , Hipersecreção Hipofisária de ACTH/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adulto , Feminino , Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico por imagem , Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia , Humanos , Imagem por Ressonância Magnética , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Neoplasias Primárias Múltiplas/cirurgia , Hipersecreção Hipofisária de ACTH/diagnóstico por imagem , Hipersecreção Hipofisária de ACTH/cirurgia , Neuro-Hipófise/diagnóstico por imagem , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/cirurgia
5.
Endocrine ; 63(1): 36-43, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30276594

RESUMO

PURPOSE: In 2017, the WHO established that pituicytoma, granular cell tumour (GCT) and spindle cell oncocytoma (SCO) are posterior pituitary tumours (PPT). Recent data suggests that these tumours probably arise from the pituicytes and may constitute a spectrum of a unique histopathological entity. Our aim is to report the clinical findings and surgical outcomes of 16 patients with PPT. We also evaluated the tissue specimens available in light of current knowledge. METHOD: Cross-sectional study with retrospective data. RESULTS: PPT were 7 pituicytomas, 3 GCT and 6 SCO. Patients mean age was 55 years old and 75% were female. Basal hormonal study showed hyperprolactinemia (43.7%) and hypopituitarism (37.5%). There was no case of diabetes insipidus (DI). MRI showed sellar/suprasellar masses with mean size of 19.7mm. PPT was not suspected in any patient. Fifteen patients underwent surgery and complications were common: 20% had perioperative bleeding (one patient died because of a massive haemorrhage), 57.1% hypopituitarism, 35.7% permanent DI and 21.4% underwent a second surgery. Pathological findings shown positivity for thyroid transcription factor 1, vimentin and negativity for cytokeratin and chromogranin A in all specimens evaluated. S100 protein was positive in 88.8% of tumours. Ki67 was ≥ 3% in 66.6% and ranged from 4-7% in SCO. CONCLUSION: PPT have similar histology, clinical features and are frequently misdiagnosed as nonfunctioning pituitary tumours. However, post-surgical complications including haemorrhage are common. A high clinical suspicion is needed to presume the diagnosis prior surgery and diminish the high morbidity of these tumours.


Assuntos
Adenoma Oxífilo/cirurgia , Tumor de Células Granulares/cirurgia , Procedimentos Neurocirúrgicos/métodos , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/cirurgia , Adenoma Oxífilo/patologia , Adulto , Idoso , Estudos Transversais , Feminino , Tumor de Células Granulares/patologia , Humanos , Hiperprolactinemia/etiologia , Hipopituitarismo/etiologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Procedimentos Neurocirúrgicos/efeitos adversos , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/patologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/terapia , Hemorragia Pós-Operatória/epidemiologia , Hemorragia Pós-Operatória/terapia , Estudos Retrospectivos , Sela Túrcica/diagnóstico por imagem , Resultado do Tratamento
6.
Pituitary ; 22(3): 296-304, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30334138

RESUMO

Neurohypophysial dysfunction is common in the first days following traumatic brain injury (TBI), manifesting as dysnatremia in approximately 1 in 4 patients. Both hyponatremia and hypernatremia can impair recovery from TBI and in the case of hypernatremia, there is a significant association with excess mortality. Hyponatremia secondary to syndrome of inappropriate antidiuretic hormone secretion (SIAD) is the commonest electrolyte disturbance following TBI. Acute adrenocorticotropic hormone (ACTH)/cortisol deficiency occurs in 10-15% of TBI patients and can present with a biochemical picture identical to SIAD. For this reason, exclusion of glucocorticoid deficiency is of particular importance in post-TBI SIAD. Cerebral salt wasting is a rare cause of hyponatremia following TBI. Hyponatremia predisposes to seizures, reduced consciousness, and prolonged hospital stay. Diabetes insipidus (DI) occurs in 20% of cases following TBI; where diminished consciousness is present, appropriate fluid replacement of renal water losses is occasionally inadequate, leading to hypernatremia. Hypernatremia is strongly predictive of mortality following TBI. Most cases of DI are transient, but persistent DI is also predictive of mortality, irrespective of plasma sodium concentration. Persistent DI may herald rising intracranial pressure due to coning. True adipsic DI is rare following TBI, but patients are vulnerable to severe hypernatremic dehydration, exacerbation of neurologic deficits and hypothalamic complications, therefore clinicians should be aware of this possible variant of DI.


Assuntos
Lesões Encefálicas Traumáticas/metabolismo , Neuro-Hipófise/metabolismo , Animais , Lesões Encefálicas Traumáticas/patologia , Diabetes Insípido/metabolismo , Diabetes Insípido/patologia , Humanos , Doenças Hipotalâmicas/metabolismo , Doenças Hipotalâmicas/patologia , Neuro-Hipófise/patologia
7.
Br J Neurosurg ; 32(5): 501-508, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29749277

RESUMO

PURPOSE: Pituicytoma is a rare low-grade glioma arising from the pituicytes of the posterior pituitary. To date, the clinical and pathological correlates of pituicytoma have not been investigated. This study was thus designed to examine the correlation between pituicytoma and the normal pituitary gland. METHODS: The records of patients who underwent pituitary surgery at Chang Gung Memorial Hospital in Linkou, Taiwan between 2000 and 2016 were reviewed. Patients who received a pathological diagnosis of pituicytoma were included; however, those with inadequate specimens for pathological study were excluded. Clinical information, including patients' presenting symptoms, serum hormone levels, neuroimages, and specimens, were collected. Hematoxylin and eosin stains and immunohistochemical (IHC) stains were performed for differential diagnosis. RESULTS: Among the 1532 patients who underwent pituitary surgery, nine (0.59%) received a pathological diagnosis of pituicytoma. Two patients were excluded due to inadequate specimens. Among the seven remaining patients, six presented with hormone changes. The IHC stains revealed that pituicytoma has no secretory function; however, the resected pituitary glands showed positive results for hormone change. Coexisting pituicytoma and adrenocorticotropic hormone adenoma were identified in one patient with a diagnosis of Cushing disease. CONCLUSIONS: Pituicytoma revealed a negative endocrine secretory function through IHC staining. Additionally, pituicytoma is associated with hypersecretion of the pituitary gland both clinically and pathologically. Diagnosing pituicytoma before pathological confirmation is difficult because the tumour may present with hormone dysfunction. Therefore, IHC staining of specimens is useful to exclude the possibility of coexisting pituicytoma and pituitary adenoma.


Assuntos
Glioma/patologia , Neuro-Hipófise/patologia , Hormônios Hipofisários/metabolismo , Neoplasias Hipofisárias/patologia , Adenoma/patologia , Adulto , Craniofaringioma/patologia , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hipersecreção Hipofisária de ACTH/patologia
8.
Medicine (Baltimore) ; 97(9): e9745, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29489677

RESUMO

The aim of this study was to explore x-ray computed tomography (CT) and magnetic resonance imaging (MRI) characteristics specific to granular cell tumors (GCTs) of the neurohypophysis.The clinical and imaging data of 6 patients with operation-proven GCTs of the neurohypophysis were analyzed retrospectively.There were 6 patients with GCTs of the neurohypophysis confirmed pathologically. Five of the tumors were purely suprasellar lesions distinct from the intrasellar pituitary gland. One tumor was both intra- and suprasellar. Solid tumors were hyperattenuated and enhanced homogeneously on CT, while showing isointensity on T1WI and heterogeneous hypointensity on T2WI, with homogeneous (4/5) or inhomogeneous (1/5) enhancement. The cystic tumor showed hypointensity on T1WI and hyperintensity on T2WI, with ring enhancement. "Star-like crack sign" was seen in 2 larger solid cases. Calcification was absent in all cases.Well-circumscribed intra and/or suprasellar masses, hyperattenuated and homogeneously enhancing on CT, hypointensity on T2WI, rarely seen calcification, should arouse suspicion of GCTs of the neurohypophysis.


Assuntos
Tumor de Células Granulares/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neuro-Hipófise/diagnóstico por imagem , Neoplasias Hipofisárias/patologia , Estudos Retrospectivos
9.
Brain Tumor Pathol ; 35(2): 62-70, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29500747

RESUMO

The fourth edition of the World Health Organization classification of endocrine tumors (EN-WHO2017) was released in 2017. In this new edition, changes in the classification of non-neuroendocrine tumors are proposed particularly in tumors arising in the posterior pituitary. These tumors are a distinct group of low-grade neoplasms of the sellar region that express thyroid transcription factor-1, and include pituicytoma, granular cell tumor of the sellar region, spindle cell oncocytoma, and sellar ependymoma. This short review focuses on the classification of posterior pituitary tumors newly proposed in EN-WHO2017, and controversies in their pathological differential diagnosis are discussed based on recent cases.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias Hipofisárias/classificação , Neoplasias Hipofisárias/diagnóstico , Fator Nuclear 1 de Tireoide/análise , Organização Mundial da Saúde , Adenoma Oxífilo/diagnóstico , Diagnóstico Diferencial , Ependimoma/diagnóstico , Tumor de Células Granulares/diagnóstico , Humanos , Estadiamento de Neoplasias , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/genética , Neoplasias Hipofisárias/patologia , Sela Túrcica/patologia
10.
Neurosci Lett ; 673: 1-6, 2018 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-29486290

RESUMO

Central diabetes insipidus can occur after hypothalamic-hypophyseal tract injury. This injury is linked with a deficit in circulating vasopressin and oxytocin, which are produced in the supraoptic nuclei and the hypothalamic paraventricular nuclei. Previous studies indicate that an ectopic neural lobe forms after pituitary stalk lesion in rats, and while the relationship between an ectopic neural lobe and CDI outcomes is unclear, the underlying mechanisms are also unknown. Here, we report that two different CDI characteristics are shown in rats that underwent pituitary stalk electric lesion and are defined by two different groups classified as the recovery group and the no-recovery group. Rats showed an enlarged functional ectopic neural lobe at the lesion site with a low CDI index. Moreover, growth associated protein-43, p-PI3K and p-AKT were up-regulated in the unmyelinated fibers of the ectopic neural lobe. Our findings suggest that the enlarged structure formed a functional ectopic neural lobe after the pituitary stalk lesion, and its regeneration might influence the CDI outcome. This regeneration might be due to an increase in GAP-43 expression through the PI3K/AKT pathway.


Assuntos
Diabetes Insípido Neurogênico/metabolismo , Proteína GAP-43/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Neuro-Hipófise/metabolismo , Hipófise/patologia , Proteínas Proto-Oncogênicas c-akt/metabolismo , Animais , Diabetes Insípido Neurogênico/etiologia , Diabetes Insípido Neurogênico/patologia , Masculino , Neuro-Hipófise/patologia , Ratos Sprague-Dawley , Transdução de Sinais , Regulação para Cima , Vasopressinas/metabolismo
11.
J Pathol ; 244(4): 469-478, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29377134

RESUMO

Autoimmune hypophysitis (AH) is thought to be an autoimmune disease characterized by lymphocytic infiltration of the pituitary gland. Among AH pathologies, lymphocytic infundibulo-neurohypophysitis (LINH) involves infiltration of the neurohypophysis and/or the hypothalamic infundibulum, causing central diabetes insipidus resulting from insufficiency of arginine vasopressin secretion. The pathophysiological and pathogenetic mechanisms underlying LINH are largely unknown. Clinically, differentiating LINH from other pituitary diseases accompanied by mass lesions, including tumours, has often been difficult, because of similar clinical manifestations. We recently reported that rabphilin-3A is an autoantigen and that anti-rabphilin-3A antibodies constitute a possible diagnostic marker for LINH. However, the involvement of rabphilin-3A in the pathogenesis of LINH remains to be elucidated. This study was undertaken to explore the role of rabphilin-3A in lymphocytic neurohypophysitis and to investigate the mechanism. We found that immunization of mice with rabphilin-3A led to neurohypophysitis. Lymphocytic infiltration was observed in the neurohypophysis and supraoptic nucleus 1 month after the first immunization. Mice immunized with rabphilin-3A showed an increase in the volume of urine that was hypotonic as compared with control mice. Administration of a cocktail of monoclonal anti-rabphilin-3A antibodies did not induce neurohypophysitis. However, abatacept, which is a chimeric protein that suppresses T-cell activation, decreased the number of T cells specific for rabphilin-3A in peripheral blood mononuclear cells (PBMCs). It ameliorated lymphocytic infiltration of CD3+ T cells in the neurohypophysis of mice that had been immunized with rabphilin-3A. Additionally, there was a linear association between the number of T cells specific for rabphilin-3A in PBMCs and the number of CD3+ T cells infiltrating the neurohypophysis. In conclusion, we suggest that rabphilin-3A is a pathogenic antigen, and that T cells specific for rabphilin-3A are involved in the pathogenesis of neurohypophysitis in mice. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal , Hipofisite Autoimune/induzido quimicamente , Autoimunidade , Proteínas do Tecido Nervoso , Neuro-Hipófise/metabolismo , Proteínas de Transporte Vesicular , Abatacepte/administração & dosagem , Animais , Anticorpos Monoclonais/administração & dosagem , Hipofisite Autoimune/imunologia , Hipofisite Autoimune/metabolismo , Hipofisite Autoimune/prevenção & controle , Autoimunidade/efeitos dos fármacos , Modelos Animais de Doenças , Feminino , Imunossupressores/administração & dosagem , Camundongos , Neuro-Hipófise/efeitos dos fármacos , Neuro-Hipófise/imunologia , Neuro-Hipófise/patologia , Núcleo Supraóptico/imunologia , Núcleo Supraóptico/metabolismo , Linfócitos T/imunologia , Linfócitos T/metabolismo , Micção
12.
Sultan Qaboos Univ Med J ; 17(2): e221-e224, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28690897

RESUMO

Multiple myeloma (MM) can present with involvement of the central nervous system in the form of nerve palsy, plasma cell masses or, rarely, with endocrinological effects due to involvement of the pituitary gland. Usually, in such cases, the disease has a rapid progression and poor prognosis. We report a 52-year-old man who was admitted to the Kolkata Medical College, Kolkata, India, in 2016 with a prolonged low-grade fever and hypernatremia. Shortly afterwards, the patient began to complain of increased urinary frequency and drowsiness. The hypernatremia was treated with intranasal desmopressin and free water replacement. Serum protein electrophoresis and an immunofixation study revealed an immunoglobulin G-κ monoclonal band. Magnetic resonance imaging of the pituitary gland revealed the absence of a posterior bright spot and spotty infiltration of the pituitary fossa. A bone marrow biopsy confirmed a diagnosis of cranial diabetes insipidus due to posterior pituitary MM infiltration.


Assuntos
Diabetes Insípido Neurogênico/etiologia , Mieloma Múltiplo/complicações , Neuro-Hipófise/patologia , Febre/etiologia , Humanos , Hipernatremia/etiologia , Hipernatremia/terapia , Índia , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/patologia
13.
Int J Surg Pathol ; 25(8): 751-754, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28612665

RESUMO

Granular cell tumor (GCT) rarely involves the central nervous system, and fewer than 100 cases have been reported in English literatures. We herein report a case of a 36-year-old Chinese man with GCT of the neurohypophysis. Magnetic resonance imaging showed one mass located in the hypophysis with heterogeneous contrast enhancement. Pathological examination showed a neoplasm comprising densely packed polygonal cells of ample cytoplasm with abundant eosinophilic granules inside. The nuclei were small with inconspicuous nucleoli and yet without any mitoses. The tumor was positive for S-100, CD68, CD163, lysosome, and vimentin. Translocation factor E-3 (TFE-3) was diffusely nuclear positive although ASPSCR1-TFE-3 fusion was not detected by fluorescence in situ hybridization. GCT of the neurohypophysis is supposed to be considered under differential diagnosis with neoplasms or lesions of histiocytic origin and others such as pituitocytoma and spindle cell oncocytoma. A group of markers such as GFAP, EMA, CD68, S-100, and PAS staining are useful in complementary diagnosis and TFE-3 may be an alternative marker.


Assuntos
Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/biossíntese , Biomarcadores Tumorais/análise , Tumor de Células Granulares/diagnóstico , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico , Adulto , Tumor de Células Granulares/patologia , Humanos , Masculino , Neoplasias Hipofisárias/patologia
15.
Endocrinol. diabetes nutr. (Ed. impr.) ; 64(3): 152-161, mar. 2017. ilus
Artigo em Espanhol | IBECS | ID: ibc-171257

RESUMO

La región selar y paraselar es una área anatómica compleja en la que se pueden desarrollar una serie de enfermedades. La glándula hipofisaria puede verse afectada por una amplia gama de trastornos, que cursan con características clínicas similares. El diagnóstico de estas lesiones implica un enfoque multidisciplinar y, junto con la exploración clínica, analítica, radiológica y quirúrgica, el estudio histológico de los adenomas hipofisarios determina la conducta que tomará el médico especialista ante el paciente. Con la aparición, en los últimos años, de nuevas técnicas inmunohistoquímicas, la clasificación histopatológica se ha vuelto más compleja y amplia, ya que además de ser el gold standard del diagnóstico, tiene implicaciones pronósticas. El objetivo de esta revisión es actualizar conceptos del diagnóstico histológico de la patología hipofisaria más frecuente, de manera clara y fácil, especialmente para aquellos profesionales en contacto directo con este tipo de patología (AU)


The sellar and parasellar region is a complex anatomical area in which several diseases may develop. The pituitary gland may be affected by a wide range of conditions having similar clinical characteristics. Diagnosis of these lesions requires a multidisciplinary approach including, in addition to clinical, laboratory, imaging, and surgical findings, histological diagnosis of pituitary adenomas to guide therapeutic management. As the result of development in recent years of new immunohistochemical techniques, histopathological classification has become more complex and wide, and not only continues to be the gold standard in diagnosis, but also has prognostic implications. The aim of this review is to provide a clear and simple update of the main concepts of histological diagnosis of the most common pituitary conditions, especially for professionals in direct contact with such diseases (AU)


Assuntos
Humanos , Masculino , Feminino , Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/patologia , Craniofaringioma/diagnóstico , Imuno-Histoquímica , Adeno-Hipófise/patologia , Prolactinoma/patologia , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Neuro-Hipófise/patologia
16.
J Pediatr Hematol Oncol ; 39(2): e74-e78, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28099396

RESUMO

Refractory/relapsed Langerhans cell histiocytosis (LCH) has a difficult course with a guarded prognosis. Salvage treatments available are both expensive and highly toxic. On the basis of the pathophysiology of LCH, we used a novel protocol including pulse dexamethasone and lenalidomide in a child with refractory LCH involving the choroid plexus, which resulted in durable remission with minimal toxicity. The protocol was extrapolated from the FIRST trial for patients with multiple myeloma. We present the clinical course, treatment protocol, and outcome in this child, who is at present disease free and in remission 18 months posttreatment.


Assuntos
Plexo Corióideo/patologia , Dexametasona/uso terapêutico , Histiocitose de Células de Langerhans/tratamento farmacológico , Talidomida/análogos & derivados , Cladribina/administração & dosagem , Cladribina/uso terapêutico , Citarabina/administração & dosagem , Citarabina/uso terapêutico , Dexametasona/administração & dosagem , Diabetes Insípido/etiologia , Resistência a Medicamentos , Humanos , Lactente , Lenalidomida , Masculino , Neuro-Hipófise/patologia , Prednisolona/administração & dosagem , Prednisolona/uso terapêutico , Pulsoterapia , Indução de Remissão , Terapia de Salvação , Base do Crânio/patologia , Talidomida/administração & dosagem , Talidomida/uso terapêutico , Vértebras Torácicas/patologia , Vimblastina/administração & dosagem , Vimblastina/uso terapêutico
17.
World Neurosurg ; 99: 543-547, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28034815

RESUMO

OBJECTIVE: The differential diagnosis of neurohypophysial lesions is difficult, and surgical biopsies are indispensable in the histologic diagnosis of some patients. Although pituitary stalk biopsies are uniformly performed, there is a considerable risk that they will result in impaired hormonal secretion. We attempt to clarify the usefulness and safety of posterior pituitary lobe biopsy by transsphenoidal surgery (TSS). METHODS: The cases of 11 consecutive patients who underwent posterior pituitary lobe biopsies by TSS were retrospectively studied. Patients with cystic sellar lesions were excluded. We examined the clinical findings, endocrinologic data, magnetic resonance imaging findings, and histologic diagnoses of the patients. The locations of neurohypophysial lesions and the histologic diagnoses by posterior pituitary lobe biopsies were examined. RESULTS: The major preoperative clinical symptoms were diabetes insipidus (DI) (90.9%), followed by anterior pituitary lobe dysfunction (hypopituitarism) (54.5%). In all the patients, the lesions occupied the pituitary stalk and the posterior pituitary lobe, and the bright spot, which would indicate a normal posterior pituitary gland, disappeared on T1-weighted imaging. The posterior pituitary lobe specimens could be histologically diagnosed in all these cases. DI persisted in 10 patients with preoperative DI after the biopsy, whereas the 1 patient without preoperative DI did not suffer from DI after the biopsy. CONCLUSIONS: A posterior pituitary lobe biopsy by TSS may be an alternative to pituitary stalk biopsy in patients with neurohypophysial lesions.


Assuntos
Biópsia/métodos , Craniofaringioma/patologia , Germinoma/patologia , Histiocitose de Células de Langerhans/patologia , Neuroendoscopia/métodos , Doenças da Hipófise/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Craniofaringioma/complicações , Craniofaringioma/diagnóstico por imagem , Diabetes Insípido/etiologia , Feminino , Germinoma/complicações , Germinoma/diagnóstico por imagem , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/diagnóstico por imagem , Humanos , Hipopituitarismo/etiologia , Imagem por Ressonância Magnética , Masculino , Doenças da Hipófise/complicações , Doenças da Hipófise/diagnóstico por imagem , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico por imagem , Estudos Retrospectivos , Adulto Jovem
18.
Rev. chil. neurocir ; 42(2): 111-117, nov. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-869761

RESUMO

Los pituicitomas son tumores infrecuentes de la región selar y supraselar, originados de la neurohipófisis, que suelen ser confundidos con otros tumores al compartir características imaginológicas. Se reporta el caso de una mujer de 36 años de edad, con un pituicitoma en la región selar, que fue diagnosticado como un adenoma hipofisario debido a los hallazgos clínicos e imaginológicos preoperatorios y se realiza una revisión de la literatura.


The Pituicytomas are rare tumors of the sellar and suprasellar region originated of the neurohypophysis and are usually confused with other tumors when sharing imagining features. It is reported a case of a 36 years old woman with pituicytoma in the sellar region that was diagnosed as a pituitary adenoma due to the presurgical clinical and imaging findings and, it is revised the literature.


Assuntos
Humanos , Adulto , Feminino , Endoscopia/métodos , Galactorreia , Hiperprolactinemia , Neuro-Hipófise/patologia , Prolactinoma/cirurgia , Prolactinoma/diagnóstico , Imagem por Ressonância Magnética/métodos , Imuno-Histoquímica/métodos , Neoplasias Hipofisárias/cirurgia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/epidemiologia , Radiocirurgia , Sela Túrcica/lesões , Tomografia Computadorizada por Raios X/métodos
19.
J Clin Neurosci ; 34: 151-157, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27475314

RESUMO

Whether bifocal germinomas (BFGs) synchronously presenting within the pineal region and the hypothalamo-neurohypophyseal axis (HNA) are primary germinomas of dual-origin remains to be elucidated. We analyzed MRI images and clinical features of 95 neurohypophyseal germinomas and 21 BFG patients and developed a tentative definition of the BFGs. We found dual-primary BFGs (true BFGs) do exist. The fundamental difference between primary and metastatic HNA germinomas was the direction of tumor growth. For a true BFG, the primary HNA tumor grew from the neurohypophysis toward the hypothalamus and almost invaded the whole pituitary stalk. For a false BFG (primary pineal germinoma with HNA metastasis), the metastatic HNA tumor first appeared at the third ventricular floor (TVF), grew toward the neurohypophysis, but commonly did not invade the inferior pituitary stalk. Compared to false BFGs, true BFGs commonly had diabetes insipidus as the first symptom, dysfunction of the anterior pituitary, no high-intensity MRI signal at the posterior pituitary, a larger extension of the HNA tumor, and fewer numbers of remote lesions from cerebrospinal fluid seeding. Accordingly, 12.8% (12/96) of our germinoma patients had true BFGs, and of these, 58.3% (7/12) were free of remote metastases and warranted treatment with limited radiotherapy. True BFGs with remote metastases and all false BFGs should be treated with craniospinal irradiation. We provided evidence for the diagnosis of true BFGs that is useful for radiotherapy strategy, suggesting that the existence of metastasis to other locations is not a diagnostic criterion for a true BFG.


Assuntos
Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/secundário , Germinoma/patologia , Germinoma/secundário , Glândula Pineal/patologia , Neuro-Hipófise/patologia , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Adolescente , Adulto , Criança , Diabetes Insípido , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Neuroimagem
20.
Medicine (Baltimore) ; 95(10): e2872, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26962783

RESUMO

Hyponatremia may be one of the clinical manifestations of adrenal insufficiency (AI) and during the diagnostic workup of hyponatremic patients investigation of AI should be included.We report the case of an 82-year-old patient who was admitted to our hospital with clinical symptoms and laboratory findings of hyponatremia. Following the diagnostic algorithm of hyponatremia we reached the diagnosis of AI. Clinician's attention must focus on the underlying cause of AI which in this case was hidden in a miscommunication between hypothalamus and pituitary due to an ectopic posterior pituitary lobe and became apparent by a pituitary magnetic resonance imaging (MRI) scan. Treatment with oral hydrocortisone resulted in full clinical recovery and electrolyte balance, which was maintained after 7 months of follow-up.Secondary AI is related with hyponatremia through increased ADH secretion. Although a hyponatremic episode may be the first presentation of AI, clinical suspicion is of high importance in order to place the right diagnosis. Disruption of communication between hypothalamus and pituitary is a rare but considerable cause of AI.


Assuntos
Insuficiência Adrenal , Hidrocortisona/administração & dosagem , Hiponatremia , Neuro-Hipófise , Insuficiência Adrenal/sangue , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/etiologia , Insuficiência Adrenal/terapia , Idoso de 80 Anos ou mais , Glucocorticoides/administração & dosagem , Humanos , Hiponatremia/diagnóstico , Hiponatremia/tratamento farmacológico , Hiponatremia/etiologia , Hiponatremia/fisiopatologia , Sistema Hipotálamo-Hipofisário/patologia , Sistema Hipotálamo-Hipofisário/fisiopatologia , Imagem por Ressonância Magnética/métodos , Masculino , Neuro-Hipófise/diagnóstico por imagem , Neuro-Hipófise/patologia , Resultado do Tratamento , Equilíbrio Hidroeletrolítico/efeitos dos fármacos
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