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1.
Neuroradiology ; 66(8): 1405-1416, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38844695

RESUMO

PURPOSE: Malignant intracranial germ cell tumors (GCTs) are rare diseases in Western countries. They arise in midline structures and diagnosis is often delayed. We evaluated imaging characteristics and early tumor signs of suprasellar and bifocal GCT on MRI. METHODS: Patients with the diagnosis of a germinoma or non-germinomatous GCT (NGGCT) who received non-contrast sagittal T1WI on MRI pre-therapy were included. Loss of the posterior pituitary bright spot (PPBS), the expansion and size of the tumor, and the expansion and infiltration of surrounding structures were evaluated. Group comparison for histologies and localizations was performed. RESULTS: A total of 102 GCT patients (median age at diagnosis 12.3 years, range 4.4-33.8; 57 males; 67 in suprasellar localization) were enrolled in the study. In the suprasellar cohort, NGGCTs (n = 20) were noticeably larger than germinomas (n = 47; p < .001). Each tumor showed involvement of the posterior lobe or pituitary stalk. A PPBS loss (total n = 98) was observed for each localization and entity in more than 90% and was related to diabetes insipidus. Osseous infiltration was observed exclusively in suprasellar GCT (significantly more frequent in NGGCT; p = .004). Time between the first MRI and therapy start was significantly longer in the suprasellar cohort (p = .005), with an even greater delay in germinoma compared to NGGCT (p = .002). The longest interval to treatment had circumscribed suprasellar germinomas (median 312 days). CONCLUSION: A loss of the PPBS is a hint of tumor origin revealing small tumors in the neurohypophysis. Using this sign in children with diabetes insipidus avoids a delay in diagnosis.


Assuntos
Imageamento por Ressonância Magnética , Neoplasias Embrionárias de Células Germinativas , Humanos , Masculino , Feminino , Criança , Adolescente , Neoplasias Embrionárias de Células Germinativas/diagnóstico por imagem , Neoplasias Embrionárias de Células Germinativas/patologia , Pré-Escolar , Imageamento por Ressonância Magnética/métodos , Adulto , Neoplasias Hipofisárias/diagnóstico por imagem , Neoplasias Hipofisárias/patologia , Sistema Hipotálamo-Hipofisário/diagnóstico por imagem , Neuro-Hipófise/diagnóstico por imagem , Neuro-Hipófise/patologia , Estudos Retrospectivos
2.
Pituitary ; 26(2): 197-208, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36862266

RESUMO

PURPOSE: The histopathological study of brain tissue is a common method in neuroscience. However, efficient procedures to preserve the intact hypothalamic-pituitary brain specimens are not available in mice for histopathological study. METHOD: We describe a detailed procedure for obtaining mouse brain with pituitary-hypothalamus continuity. Unlike the traditional methods, we collect the brain via a ventral approach. We cut the intraoccipital synchondrosis, transection the endocranium of pituitary, broke the spheno-occipital synchondrosis, expose the posterior edge of pituitary, separate the trigeminal nerve, then the intact pituitary gland was preserved. RESULT: We report an more effective and practical method to obtain continuous hypothalamus -pituitary preparations based on the preserve of leptomeninges. COMPARED WITH THE EXISTING METHODS: Our procedure effectively protects the integrity of the fragile infundibulum preventing the pituitary from separating from the hypothalamus. This procedure is more convenient and efficient. CONCLUSION: We present a convenient and practical procedure to obtain intact hypothalamic-pituitary brain specimens for subsequent histopathological evaluation in mice.


Assuntos
Doenças da Hipófise , Neuro-Hipófise , Camundongos , Animais , Hipófise/patologia , Neuro-Hipófise/patologia , Hipotálamo/patologia , Sistema Hipotálamo-Hipofisário , Doenças da Hipófise/cirurgia , Doenças da Hipófise/patologia
3.
Neuropathology ; 43(6): 472-478, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37147874

RESUMO

Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive low-grade neoplasms of the posterior pituitary gland. GCT usually present as a solid sellar mass, slowly growing and causing compressive symptoms over time, occasionally with suprasellar extension. They comprise polygonal monomorphous cells with abundant granular cytoplasm, which is ultrastructurally filled with lysosomes. Here we report the case of a GCT presenting as a third ventricle mass, radiologically mimicking chordoid glioma, with aberrant expression of GFAP and Annexin-A, which lends itself as an example of an integrated diagnostic approach to sellar/suprasellar and third ventricle masses.


Assuntos
Neoplasias do Ventrículo Cerebral , Craniofaringioma , Glioma , Tumor de Células Granulares , Neuro-Hipófise , Neoplasias Hipofisárias , Terceiro Ventrículo , Humanos , Neuro-Hipófise/metabolismo , Neuro-Hipófise/patologia , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/patologia , Tumor de Células Granulares/diagnóstico por imagem , Tumor de Células Granulares/patologia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Glioma/patologia
4.
Br J Neurosurg ; 37(4): 641-646, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30431381

RESUMO

We report the case of a 61-year-old male with spindle cell oncocytoma of the hypophysis. On presentation to the Department of Neurosurgery at the German Armed Forces Hospital of Ulm, the patient reported a history of several years of left sixth nerve palsy, right ptosis, increased sensitivity to light, and a bilateral retrobulbar pressure sensation. Pituitary function was normal. A chromophobe non-functioning pituitary adenoma was initially suspected. The diagnosis was established on the basis of examination at a histopathology reference laboratory using immunohistochemistry to identify cell surface markers. During two years of follow-up, there were two clinical recurrences requiring surgery. To our knowledge, this is the 35th documented case of spindle cell oncocytoma of the pituitary gland and the first that was immunohistochemically negative for epithelial membrane antigen (EMA) and S100; and the first that displayed haematogenous metastasis to the right sphenoparietal sinus. The three surgical procedures were associated with massive intraoperative bleeding and thus resulted in subtotal tumor resection. Following surgery for the recurrences, the patient underwent radiotherapy.


Assuntos
Adenoma Oxífilo , Neuro-Hipófise , Neoplasias Hipofisárias , Masculino , Humanos , Pessoa de Meia-Idade , Adenoma Oxífilo/cirurgia , Adenoma Oxífilo/complicações , Adenoma Oxífilo/patologia , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/cirurgia , Neoplasias Hipofisárias/complicações , Neuro-Hipófise/patologia , Mucina-1 , Recidiva
5.
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
6.
Clin Neuropathol ; 39(6): 271-274, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32589126

RESUMO

PURPOSE: The prevalence of basophilic invasion (BI) and degenerative changes in the neurohypophysis of humans with neurodegenerative disease is not established. MATERIALS AND METHODS: We evaluated 122 pituitary glands reviewed at autopsy including 45 with Alzheimer's disease (AD) Braak and Braak stage V or VI, 18 with Lewy body disease (LBD), and 59 age-matched controls for BI. In addition, pituitary glands from 51 patients including 25 patients with AD and 18 aged-matched controls were studied with a periodic acid Schiff (PAS) stain and immunohistochemistry with a polyclonal antibody to nestin. Samples were graded as negative (0) or positive (1). RESULTS: BI was seen in 35 of 45 patients with AD (0.78 ± 0.06 mean and SE: 78%) and was significantly higher than 30 of 59 controls (0.51 ± 0.07; 51%) (p = 0.0236). BI was seen in 7 of 18 patients with LBD (0.39 ± 0.12; 39%) compared to controls (p = 0.387). BI was also significantly higher in AD compared to LBD (p = 0.0001). Nestin immunoreactivity was detected in the neurohypophysis of all patients. Definite nestin was not found in BI but was seen in Herring body-like structures, in pituicytes and axons. Phospho-τ-immunoreactive Herring bodies were seen in 65% with AD but phospho-τ-immunoreactive neurofibrillary tangles were not found. CONCLUSION: BI is increased in AD compared to controls or LBD but not associated with nestin immunoreactivity. The significance and role of BI as a marker for AD warrants additional study.


Assuntos
Doença de Alzheimer/diagnóstico , Doença de Alzheimer/patologia , Encéfalo/metabolismo , Neuro-Hipófise/metabolismo , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/fisiopatologia , Encéfalo/patologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Doença por Corpos de Lewy/metabolismo , Doença por Corpos de Lewy/patologia , Masculino , Pessoa de Meia-Idade , Emaranhados Neurofibrilares/patologia , Neuro-Hipófise/patologia , Proteínas tau/metabolismo
7.
World J Surg Oncol ; 18(1): 108, 2020 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-32460843

RESUMO

BACKGROUND: Pituicytoma is a rare pituitary non-neuroendocrine tumour. The awareness of pituitary non-neuroendocrine tumours has gradually increased over the past several decades, but the knowledge of some histological variants of the tumours is limited, particularly in clinicopathological significance. Here, we report a rare case of pituicytoma variant. CASE PRESENTATION: A 71-year-old man presented with sudden symptoms of stroke including urinary incontinence, weakness in right lower limb, and trouble speaking. Physical examinations showed a right facial paralysis. The radiological examinations eventually found a 1.7 × 1.4 × 1.3 cm sellar occupied lesion. After symptomatic treatment improved the symptoms, the patient underwent transsphenoidal resection of the pituitary mass. Histologically, the tumour contained hypocellular area and hypercellular area. The hypocellular area showed elongated spindle cells arranged in a fascicular pattern around small vessels and scattered Herring bodies; the hypercellular area showed a large number of pseudorosettes. Immunohistochemistrically, the tumour cells were positive for thyroid transcription factor-1, S100, and neuron-specific enolase. Neurofilament only showed a little positive in the hypocellular area, and silver impregnation was only noted in a perivascular distribution. The patient had no recurrence 4 months after the surgery. CONCLUSIONS: The rare variant of pituicytoma has a favourable prognosis. Moreover, it needs to be distinguished pituicytomas with pseudorosettes from ependymomas because of different prognosis. Lastly, Herring bodies may occasionally be seen in the pituicytoma, which could be a potential diagnostic pitfall.


Assuntos
Biomarcadores Tumorais/análise , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/diagnóstico , Idoso , Humanos , Imageamento por Ressonância Magnética , Masculino , Neuro-Hipófise/diagnóstico por imagem , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia
8.
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 , Rabfilina-3A
9.
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
10.
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
11.
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
12.
Pediatr Int ; 57(3): 483-6, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25712128

RESUMO

We report the case of a 19-year-old woman with a highly malignant intracranial germ cell tumor (GCT) that developed 14 years after treatment for neurohypophyseal germinoma. Magnetic resonance imaging (MRI) showed a large neurohypophyseal mass and a synchronous lesion in the pineal region. Plasma α-fetoprotein was elevated to 3038 ng/mL. Although the tumor shrank and tumor marker levels normalized after chemotherapy and craniospinal irradiation, treatment was switched to oral etoposide for the residual tumor because of adverse events. MRI after oral etoposide introduction showed additional tumor shrinkage for 27 months after the onset of the second tumor. To the best of our knowledge, this is the longest interval between germinoma onset and the development of highly malignant recurrent GCT to be reported in the English-language literature. Oral etoposide prevented regrowth of the GCT, which has a poor prognosis, and decreased the size of the residual tumor.


Assuntos
Neoplasias Encefálicas/tratamento farmacológico , Transformação Celular Neoplásica , Etoposídeo/administração & dosagem , Previsões , Germinoma/tratamento farmacológico , Neuro-Hipófise/patologia , Administração Oral , Antineoplásicos Fitogênicos/administração & dosagem , Neoplasias Encefálicas/diagnóstico , Progressão da Doença , Relação Dose-Resposta a Droga , Feminino , Germinoma/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Fatores de Tempo , Adulto Jovem
13.
J Trop Pediatr ; 61(2): 100-5, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25587001

RESUMO

Diabetes insipidus is a rare but serious endocrine disorder. Paediatric patients were evaluated for polyuria at King Khalid University Hospital, Riyadh, Saudi Arabia, over a decade (2000-13). Relevant clinical examination and/or a triad of high serum osmolality, hypernatremia and low urine osmolality due to increased urine output confirmed the diagnosis. Water deprivation test was required in some cases with non-classic presentations. Appropriate brain imaging was performed whenever central diabetes insipidus (CDI) was suspected. Twenty-eight patients, 15 males (53.6%) and 13 females (46.4%), aged 0-17 years (mean: 6 years) were included. The calculated period prevalence was 7 in 10,000. In our cohort, 60.7% (17 of 28 patients) had CDI, 21.4% (6 of 28) were diagnosed with nephrogenic diabetes insipidus (NDI) and 17.9% (5 of 30) had psychogenic polydipsia. CDI was due to variable aetiology. Though CDI was the commonest, NDI was not a rare encounter in our community, possibly because of high consanguineous marriages.


Assuntos
Diabetes Insípido/diagnóstico , Diabetes Insípido/epidemiologia , Neuro-Hipófise/patologia , Polidipsia/etiologia , Poliúria/etiologia , Adolescente , Distribuição por Idade , Criança , Feminino , Hidratação , Hospitais Universitários , Humanos , Hipernatremia/sangue , Imageamento por Ressonância Magnética , Masculino , Oriente Médio , Polidipsia/epidemiologia , Poliúria/epidemiologia , Arábia Saudita/epidemiologia
14.
No Shinkei Geka ; 42(6): 561-6, 2014 Jun.
Artigo em Japonês | MEDLINE | ID: mdl-24920744

RESUMO

We report a case of possible immunoglobulin G4-related disease(IgG4-RD)that resulted in complications such as retroperitoneal fibrosis and infundibulohypophysitis. The patient was a 72-year-old male who presented with polyuria and polydipsia. Magnetic resonance imaging(MRI)revealed a thickened pituitary stalk and contrast enhancement with gadolinium. T1-weighted imaging revealed that the posterior pituitary high-signal zone had disappeared. Central diabetes insipidus was diagnosed on the basis of results of the hypertonic saline test. In addition, pressure due to retroperitoneal fibrosis resulted in hydronephrosis and elevated serum IgG4 levels. Because it was determined that the patient could have IgG4-RD, he was administered prednisolone, following which a decrease in the size of the pituitary stalk and retroperitoneal fibrosis was observed. IgG4-RD is characterized by elevated serum IgG4 levels and the infiltration of IgG4-positive plasma cells into various organs, including the central nervous system. Recently, IgG4-RD research teams organized by the Ministry of Health, Labour and Welfare established guidelines for the diagnosis of IgG4-RD. According to these guidelines, this case would fall under the category of "possible IgG4-RD." This case suggested that when infundibulohypophysitis is detected by neuroradiology, further investigation into the possibility of IgG4-RD should be recommended.


Assuntos
Doenças Autoimunes/diagnóstico , Diabetes Insípido Neurogênico/complicações , Imunoglobulina G/sangue , Doenças da Hipófise/complicações , Neuro-Hipófise/patologia , Fibrose Retroperitoneal/etiologia , Idoso , Doenças Autoimunes/complicações , Humanos , Masculino , Doenças da Hipófise/patologia
15.
Clin Neuropathol ; 32(5): 377-83, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23611590

RESUMO

Gangliocytic lesions of the pituitary gland producing Cushing's disease are extremely rare entities that may exist with or without a pituitary adenoma. The latter have been designated mixed pituitary adenoma-gangliocytomas, the majority of which produce growth hormone, not adrenocorticotropin (ACTH), and are localized to the anterior gland. We now report an immunocompetent woman with hypercortisolism who presented with an intranasal aspergilloma eroding the bony sellar floor. The fungal ball was contiguous with, and extended into, a large neurohypophyseal-centered mass. Transsphenoidal resection revealed a gangliocytic lesion of the posterior gland with small clusters of intimately admixed ACTH-immunoreactive adenoma cells as the cause of her Cushing's disease. Rare transitional sizes and shapes of cells coupled with immunohistochemical findings supported interpretation as advanced neuronal metaplasia within an ACTH adenoma. This mixed ACTH adenoma-gangliocytoma is the first example to present clinically with an opportunistic infection.


Assuntos
Adenoma/complicações , Aspergilose/complicações , Aspergillus/isolamento & purificação , Ganglioneuroma/complicações , Hipersecreção Hipofisária de ACTH/etiologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/complicações , Adenoma/patologia , Idoso , Aspergilose/parasitologia , Feminino , Ganglioneuroma/patologia , Humanos , Hipersecreção Hipofisária de ACTH/patologia , Neoplasias Hipofisárias/patologia , Sela Túrcica/patologia
16.
Childs Nerv Syst ; 29(6): 1031-4, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23463129

RESUMO

PURPOSE: Granular cell tumors (GCT) of the neurohypophysis are rare, solitary, nodular-shaped lesions, mostly presenting in the adult age with a female predilection. They rarely grow to a sufficient size to cause mass effect related symptoms and they may be found in most cases incidentally at autopsy of older patients. Few cases of symptomatic GCT of the neurohypophysis have been reported in the literature and only one of these in a pediatric patient in the first decade of life, who presented with central precocious puberty. METHODS: We report the case of a 11-year-old boy with a large suprasellar GCT of the neurohypophysis, complaining severe headache and pituitary insufficiency. Before our referral, the child was operated at another insitution through a pterional approach for tumor biopsy and underwent chemotherapy because of the misleading diagnosis of glioma. RESULTS: The patient was operated on by a fronto-orbito-zygomatic approach with subtotal tumor resection. At last follow-up examination, a partial hypopituitarism was detected. The quality of life with replacement therapy was excellent. Fractionated radiotherapy on tumor remnant was advised. CONCLUSIONS: The reported case is exceptional because the tumor developed in a male pediatric patient, causing clinical symptoms related to intracranial hypertension and unusual endocrinological features. GCT has to be considered in the differential diagnosis of suprasellar masses, to avoid misleading interpretation and consequent wrong therapeutic management.


Assuntos
Tumor de Células Granulares/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Hormônio Adrenocorticotrópico/metabolismo , Criança , Tumor de Células Granulares/cirurgia , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Imageamento por Ressonância Magnética , Masculino , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/cirurgia , Período Pós-Operatório , Tomografia Computadorizada por Raios X , Resultado do Tratamento
17.
Acta Neurochir (Wien) ; 155(6): 1049-55, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23532346

RESUMO

BACKGROUND: High-definition imaging in endoscopic transsphenoidal pituitary surgery accounts for significantly better identification of anatomic structures. This report presents the clinical images of the adenohypophysis and neurohypophysis under high-definition endoscopic observation, and provides some clues for pituitary-sparing surgery. METHODS: Ten demonstrative cases of pituitary lesions, including three cases of gonadotropin-producing pituitary adenoma, two cases of somatotropin-secreting pituitary adenoma, and five cases of Rathke's cleft cysts, were entered in this study. From these cases, we extracted helpful intraoperative findings that affected the surgeon's decision about surgical procedures and led to favorable results. RESULTS: The extracted findings contain the following lessons: (1) to find a boundary plane that separate a lesion from the pituitary; (2) to mark the difference of color between the adenohypophysis and the neurohypophysis; (3) to identify the location of the pituitary stalk connecting to the neurohypophysis; (4) to observe the color change of the pituitary induced by decompression; (5) to know pathological findings of the pituitary surface; (6) to distinguish the parenchyma of the neurohypophysis from pathological tissues; and (7) to recognize the intrasellar findings at the completion of removal. Recognition of these findings led to an excellent result in each case. CONCLUSIONS: Despite being shown in a limited number of cases, on the basis of HD endoscopic images, accurate identification of the neurohypophysis and the pituitary stalk as well as adenohypophysis during surgery contributes to pituitary-conserving operations.


Assuntos
Endoscopia , Adeno-Hipófise/cirurgia , Neuro-Hipófise/cirurgia , Hipófise/cirurgia , Neoplasias Hipofisárias/cirurgia , Adulto , Diagnóstico por Imagem , Endoscopia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hipófise/patologia , Adeno-Hipófise/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia
18.
Neuro Endocrinol Lett ; 34(5): 331-8, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23922042

RESUMO

A 54-year-old woman presented with a stalk mass that was discovered incidentally with mild visual fields defect. The mass was operated surgically by the fronto-temporal approach, and histology met the diagnosis of neurohypophesial granular cell tumor (GCT). After surgery, the patient suffered from an irreversible severe bi-temporal visual deficit and an irreversible hypopituitarism. We review the literature and discuss the clinical nature of GCTs, treatment options and outcome. In an effort to avoid the severe complications that may result from surgical removal of neurohypophesial GCT, we discuss also the possibility of choosing the conservative approach with close follow-up. The tumor's firm consistency, tendency to hemorrhage, involving the pituitary stalk and lack of dissection plane from basal brain structure render surgery difficult, and maximal resection often requires sacrificing the stalk. Moreover, small asymptomatic neurohypophysial GCTs are common findings, most probably benign tumors with slow growing nature. Hence, for a neurohypophesial tumor which is suspected to be a GCT, we offer to consider the alternative approach, with close clinical, visual field and radiological study follow up.


Assuntos
Tumor de Células Granulares/patologia , Hipopituitarismo/patologia , Neuro-Hipófise/patologia , Neoplasias Hipofisárias/patologia , Feminino , Tumor de Células Granulares/cirurgia , Humanos , Hipopituitarismo/cirurgia , Pessoa de Meia-Idade , Neuro-Hipófise/cirurgia , Neoplasias Hipofisárias/cirurgia
19.
Nat Genet ; 21(3): 334-8, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10080192

RESUMO

The LAR-family protein tyrosine phosphatase sigma (PTPsigma, encoded by the gene Ptprs) consists of a cell adhesion-like extracellular domain composed of immunoglobulin and fibronectin type-III repeats, a single transmembrane domain and two intracellular catalytic domains. It was previously shown to be expressed in neuronal and lung epithelial tissues in a developmentally regulated manner. To study the role of PTPsigma in mouse development, we inactivated Ptprs by gene targeting. All Ptprs+/- mice developed normally, whereas 60% of Ptprs-/- mice died within 48 hours after birth. The surviving Ptprs-/- mice demonstrated stunted growth, developmental delays and severe neurological defects including spastic movements, tremor, ataxic gait, abnormal limb flexion and defective proprioception. Histopathology of brain sections revealed reduction and hypocellularity of the posterior pituitary of Ptprs-/- mice, as well as a reduction of approximately 50-75% in the number of choline acetyl transferase-positive cells in the forebrain. Moreover, peripheral nerve electrophysiological analysis revealed slower conduction velocity in Ptprs-/- mice relative to wild-type or heterozygous animals, associated with an increased proportion of slowly conducting, small-diameter myelinated fibres and relative hypomyelination. By approximately three weeks of age, most remaining Ptprs-/- mice died from a wasting syndrome with atrophic intestinal villi. These results suggest that PTPsigma has a role in neuronal and epithelial development in mice.


Assuntos
Regulação da Expressão Gênica no Desenvolvimento , Neurônios/patologia , Neurônios/fisiologia , Neuro-Hipófise/anormalidades , Proteínas Tirosina Fosfatases/genética , Fatores Etários , Sequência de Aminoácidos , Animais , Comportamento Animal/fisiologia , Encéfalo/patologia , Eletrofisiologia , Transtornos do Crescimento/genética , Imuno-Histoquímica , Pulmão/patologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Mutantes , Microscopia Eletrônica , Dados de Sequência Molecular , Fenômenos Fisiológicos do Sistema Nervoso , Neuro-Hipófise/patologia , Proteínas Tirosina Fosfatases Classe 2 Semelhantes a Receptores , Taxa de Sobrevida , Transgenes
20.
Morfologiia ; 144(5): 35-9, 2013.
Artigo em Russo | MEDLINE | ID: mdl-24592715

RESUMO

With the use of light and electron microscopy and immunohistochemistry, the morpho-functional changes in the lungs, the hypothalamus and the neurohypophysis were studied in 45 outbred albino male rats 1, 3, 7 and 14 days after the intratracheal infusion of Staphylococcus aureus strains either possessing anti-lactoferrin activity (ALfA(+)) or lacking it (ALfA(-)). After the infusion of ALfA(+) bacteria, the bronchial wall and the respiratory portion of the lungs demonstrated the destructive changes of tissues, sclerosis phenomena, disturbances of regeneration processes (polypoid outgrowth, metaplasia), while in the neurohypophysis a delay in the release of neurosecretion into the blood from the terminals of nonapeptidergic neurosecretory cells took place. These phenomena were not observed after the infection with ALfA(-)bacteria. The results obtained indicate the disturbances of the structural-functional homeostasis of pulmonary tissues associated with bacterial ALfa, taking place together with the limitations of the hypothalamic neurosecretion.


Assuntos
Lactoferrina/genética , Pulmão/ultraestrutura , Neuro-Hipófise/ultraestrutura , Staphylococcus aureus/patogenicidade , Animais , Brônquios/metabolismo , Brônquios/microbiologia , Brônquios/ultraestrutura , Homeostase , Hipotálamo/metabolismo , Hipotálamo/ultraestrutura , Pulmão/metabolismo , Pulmão/microbiologia , Masculino , Sistemas Neurossecretores/microbiologia , Sistemas Neurossecretores/patologia , Neuro-Hipófise/metabolismo , Neuro-Hipófise/microbiologia , Neuro-Hipófise/patologia , Ratos , Staphylococcus aureus/genética
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