MRI features of Langerhans cell histiocytosis in central nervous system in children / 中华放射学杂志

Objective To explore the MRI features of Langerhans cell histiocytosis (LCH) in central nervous system (CNS) in children. Methods Clinical and MRI data of 25 cases with LCH in CNS from three children's hospitals between January 2009 and December 2014 were retrospectively studied. All cases were confirmed by surgery or biopsy. All cases underwent non?contrast and contrast pituitary and/or cranial MRI examinations. The location, morphology, MRI signal and enhanced patterns of LCH lesions were observed and analyzed. Result A total of 17 cases had hypothalamic-pituitary LCH, with 2 of them complicated with pineal cyst, 2 complicated with brain parenchymal lesions, and one complicated with both pineal cyst and brain parenchymal lesions. MR images showed that neurohypophysis lost its original hyper?intensity on T1WI, and nodular or homogeneous thickening was seen in the pituitary stalks. Dura matter was involved in 3 cases, 2 of them had single lesion, and the other one got multiple lesions. Neoplasm in choroid plexus was seen in trigone of left lateral ventricles in one case. Three cases with pineal gland involved demonstrated cystic change. Four cases had gray matter involved, with cerebellar dentate nuclei involvement in 2 cases, and both thalamus and basal ganglia involvement in the other two cases. Three cases showed white matter involvement without obvious Virchow-Robin space enlargement and brain atrophy. Conclusions MR imaging of LCH in CNS shows certain specific characteristics. The diagnosis can be made comprehensively based on both clinic features and other imaging findings.

Central diabetes insipidus: alert for dehydration in very low birth weight infants during the neonatal period. A case report / Diabete insípido central: alerta para desidratação no período neonatal em recém-nascidos de muito baixo peso. Um relato de caso

CONTEXT: Central diabetes insipidus (CDI) is a rare cause of hypernatremia during the neonatal period. The diagnosis is particularly difficult in very low birth weight (VLBW) newborns. CASE REPORT: We report on a preterm newborn who presented CDI soon after birth. On the third day of life, signs of dehydration were present despite normal fluid supply. The diuresis rate was 4.4 ml/kg/h. Although the fluid supply was then increased, the dehydration continued, with hypernatremia, normal glycemia, diuresis of 7.4 ml/kg/h and urine density of 1005 mOsmol/l. Thus, a diagnostic hypothesis of diabetes insipidus was raised. A test with a nasal vasopressin analogue (dDAVP) was performed and CDI was confirmed. Reduction of the fluid supply became possible through appropriate treatment. CONCLUSION: The diagnosis of CDI is rarely made during the neonatal period, especially in VLBW newborns, because of the difficulty in detecting elevated diuresis. Persistent hypernatremia, usually accompanied by hyperthermia despite abundant fluid supply, weight loss and low urine osmolality are important signs of alert. .

CONTEXTO: Diabete insípido central (DIC) é uma rara causa de hipernatremia durante o período neonatal. O diagnóstico é difícil, particularmente em recém-nascidos (RN) de muito baixo peso (RNMBP). RELATO DE CASO: Relatamos um RN que apresentou DIC logo após o nascimento. No terceiro dia de vida, apresentava sinais de desidratação, embora estivesse recebendo aporte adequado de líquidos. A diurese aferida era de 4,4 ml/kg/h. Apesar do aumento do aporte hídrico, manteve-se desidratado, com hipernatremia, valores normais de glicemia e diurese de 7,4 ml/kg/h com densidade urinária de 1005 mOsmol/l. Desta forma, a hipótese diagnóstica de diabete insípido foi considerada. O teste com análogo da vasopressina (dDAVP) foi realizado e DIC foi confirmado. A redução do aporte de líquidos foi possível com o tratamento adequado. CONCLUSÃO: O diagnóstico de DIC raramente é realizado durante o período neonatal, particularmente em RNMBP, devido à dificuldade em detectar diurese aumentada. Hipernatremia persistente, geralmente acompanhada de hipertermia, apesar do abundante aporte de água, perda de peso e osmolaridade urinaria baixa, são importantes sinais de alerta. .

Diabetes insípida: generalidades y diagnóstico en pacientes pediátricos / Diabetes insipidus: overview and diagnosis in pediatric patients

La diabetes insípida es una enfermedad caracterizada por la incapacidad parcial o total para concentrar la orina, debido a una deficiencia en la secreción de vasopresina (diabetes insípida central), resistencia en la acción de la misma (diabetes insípida nefrogénica) o a ingesta excesiva de agua (polidipsiaprimaria). Las principales manifestaciones son polidipsia, poliuria y nicturia; la diabetes insípida central tiene un inicio repentino, mientras que la nefrogénica tiene un inicio más gradual. Gracias a los avances en laboratorio clínico, imaginología y biología molecular, ha mejorado el diagnóstico etiológico de la diabetes insípida, pasando de 50% de casos idiopáticos a solo entre 10% y 20%, de forma que se ha logrado un tratamiento más oportuno, con la consecuente reducción del riesgo de secuelas. En este sentido, es de especial importancia descartar causas secundarias, tales como medicamentos o desórdenes metabólicos en la diabetes insípida nefrogénica y tumores cerebrales, traumatismos craneoencefálicos, enfermedades infiltrativas, enfermedades autoinmunes o infecciones de sistema nervioso central en el caso de la diabetes insípida central. En cuanto al tratamiento, para la diabetes insípida central se recomienda el uso de desmopresina, análogo sintético de la vasopresina, y para la nefrogénica aporte de agua, limitación a la ingesta de sal y el consumo de diuréticos y antinflamatorios no esteroideos. En este artículo de revisión se describirá la fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento de la diabetes insípida en la edad pediátrica.

Diabetes insipidus is a disease characterized by partial or total inability to concentrate urine; the disease can be caused by vasopressin secretion deficiency (central diabetes insipidus), resistance to its action (nephrogenic diabetes insipidus) or an excessive consumption of water (primary polydipsia). The main signs and symptoms of the disease are polydipsia, polyuria, and nocturia; in addition, central diabetes insipidus has an insidious onset, whereas nephrogenic diabetes insipidus has a gradual onset. Because of the advances in clinical laboratory, imaging techniques and molecular biology, the etiologic diagnosis of diabetes insipidus has improved, and the rate of idiopathic diabetes insipidus, which initiallycorresponded to 50% of patients, has dramatically decreased to 10%-20% of patients; therefore, it has been achieved more timely treatments, resulting in reduction of the risk of sequelae. Accordingly, it is pivotal to rule out secondary causes of diabetes insipidus, such as drug consumption or metabolic disorders in patients with nephrogenic diabetes insipidus, and brain tumors, encephalic trauma, infiltrative diseases, autoimmune disorders or central nervous system infections in case of patients suffering of central diabetes insipidus. Regarding treatment, it is recommended to use desmopressin, an analogue of vasopressin, for the treatment of central diabetes insipidus, whereas water consumption, decrease of salt consumption and treatment with diuretic and non-steroidal anti-inflammatory drugs are recommended for treatment of patients with nephrogenic diabetes insipidus. This review article describes physiopathology, signs and symptoms, diagnosis, and treatment of children with diabetes insipidus.

A Case of Turner Syndrome Associated with Idiopathic Central Diabetes Insipidus / 대한소아내분비학회지

We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.

A Case of Turner Syndrome Associated with Idiopathic Central Diabetes Insipidus / 대한소아내분비학회지

We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome.

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family / Diabetes insípido neuro-hipofisário familial causado por uma nova mutação no gene da arginina-vasopressina em uma família brasileira

Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is a rare autosomal dominant disorder characterized by polyuria and polydipsia due to deficiency of arginine vasopressin (AVP). More than 50 mutations causing adFNDI have been already reported in the AVP gene. The aim of the present study is to analyze the AVP gene in four generations of one Brazilian kindred with adFNDI. The proband was a 31-year old female with huge hypotonic polyuria (10 L/day) dated from childhood. Molecular analysis included amplification of all exons and exon-intron regions of the AVP gene by PCR and direct sequencing. Sequencing analysis showed a novel point mutation in heterozygous: G88V (GGC>GTC). All affected patients presented the same mutation also in heterozygous, while it was absent in four normal members. We expand the repertoire of mutations in AVP describing the novel G88V mutation in one Brazilian kindred with adFNDI.

Diabetes insípido neuro-hipofisário com herança autossômica dominante (adFNDI) é uma doença autossômica dominante rara, caracterizada por poliúria e polidipsia devido à deficiência de arginina-vasopressina (AVP). Mais de 50 mutações causando adFNDI foram descritas no gene AVP. O objetivo deste estudo foi analisar o gene AVP em quatro gerações de uma família brasileira com DINF. O caso-índice é de uma paciente de 31 anos, com volumosa poliúria hipotônica desde a infância (10 L/dia). A análise molecular incluiu amplificação por PCR e seqüenciamento automático dos éxons e regiões éxon-íntron do gene AVP. A análise do seqüenciamento mostrou uma nova mutação de ponto em heterozigose: G88V (GGC>GTC). Todos os pacientes afetados apresentaram a mesma mutação, que não foi encontrada em quatro indivíduos normais da família. Expandimos a lista de mutações no gene AVP, descrevendo a nova mutação G88V em uma família brasileira com adFNDI.

Clinical significance and change curve of ADH in central diabetes insipidus after neurosurgical operation / 吉林大学学报(医学版)

Objective To study the change curve of ADH in central diabetes insipidus after neurosurgical operation,and analyse the clinical significance of differentiating the types of central diabetes insipidus through the change curve.Methods The serum level of ADH was observed in 158 central diabetes insipidus patients undergone neurosurgical operation.The change curve of ADH in different types of central diabetes insipidus were painted,including transient,continuous and triphasic diabetes insipidus.Results The serum concentrations of ADH in transient and triphasic diabetes insipidus decreased after operation,and arrived the low point(41.7% and 63.6% of the preoperative serum concentration of ADH) after 2 d. The serum concentration of ADH in transient diabetes insipidus recovered to the preoperative level after 10 d.The serum concentration of ADH in triphasic diabetes insipidus arrived the peak after 7 d,then descended.The serum concentration of ADH in continuous diabetes insipidus fell in postoperative 1 d,and arrived the low point(33.3% of the preoperative serum level of ADH) after 7 d.The serum concentration of ADH in continuous diabetes insipidus postoperative 2 weeks was lower than preoperation.Conclusion Though the concentration change curve of ADH,the transient diabetes insipidus can be distinguished from continuous and triphasic diabetes insipidus.The correct differential diagnosis and seemly treatment are beneficial for patients' prognosis.

A case of lymphocytic infundibuloneurohypophysitis presenting as central diabetes insipidus and nodular mass on neurohypophysis / 대한내과학회지

Lymphocytic infundibuloneurohypophysitis was known as a cause of idiopathic central diabetes insipidus. Until recent time, it is characterized into two groups. One has thickening of the pitutitary stalk, enlargement of the neurohypophysis and loss of hyperintense signal of the normal neurohypophysis, the other has only loss of hyperintense signal but not morphological change. A 51-year-old man presented with a one month history of polydipsia and polyuria. The interpretation of water deprivation test was compatible with complete central diabetes insipidus. Endocrinologic examination of the adenohypophysis hormones and its triple stimulation test were normal apart from thyroid stimulating hormone (TSH), which showed low response despite thyrotropin releasing hormone (TRH). Sellar MRI scan disclosed an loss of hyperintense singnal of normal neurohypophysis and about 10 mm-sized nodular mass lesion on neurohypophysis. However, thickness of the pituitary stalk was normal. Pathologic examination demonstrated diffuse infiltration of lymphocytes and plasma cells. No adenomas, menigitis, sarcoidosis or granulomas were present. We supposed that this case was an atypical type of lymphocytic infundibuloneurohypophysitis, which did not belong to any other part of two groups described above.

Effects of hypothalamic supraoptic ADH neurons at different times after hypophysectomy in Wistar rats / 中国病理生理杂志

AIM:To observe the effects of supraoptic ADH neurons and central diabetes insipidus(CDI)in Wistar rats at different times after hypophysectomy.METHODS:Hypophysectomy was undergone by stereotaxic instrument.Water intake,urine output and urine specific gravity(SG)were observed each day.The survival rate of supraoptic ADH neurons was determined by immunofluorescence after hypophysectomy at different times.RESULTS:The rats manifested triphasic CDI after hypophysectomy.The average water intake in experiment group was 73.9 mL vs 30.9 mL in control group(P0.05),but the cellular body hypertrophy appeared.The survival rate at 10th day was 72%(P0.05),but they were all less than the 10th day(P