急性中枢性尿崩症临床经过和治疗评估

目的　 调查分析急性中枢性尿崩症的临床过程和疗效。 方法 　回顾性总结 1997年 5月～ 1999年 12月住我院PICU的 16例急性中枢性尿崩症患儿临床资料。 结果 　所有病例均继发于脑损伤和应用垂体加压素治疗 ,其剂量为 0 0 0 0 3～0 0 0 65U/(kg·min) ,治疗时间为 5小时～ 18天 ,平匀 2 8 5小时。治疗目标达到 :尿量 2～ 3ml/(kg·h) ,尿比重 1 0 10～ 1 0 2 0 ,血钠 14 0～ 14 5mmol/L。存活 3例 ( 19% ) ,死亡 13例 ( 81% )。 结论 　垂体加压素治疗急性中枢性尿崩症对于减少尿量和纠正高钠血症有显著效果。     

Oral desmopressin treatment of central diabetes insipidus in children

To assess the efficacy of treatment with oral desmopressin (DDAVP), 20 patients, aged 5–20 y, with central diabetes insipidus were studied during 3 d of hospitalization and for 3 months at the outpatient clinic. At baseline the median rate of diuresis was 12. 7 ml kg^-1 h^-1. Urinary output decreased significantly under treatment with an increase in urinary osmolality, normalization of plasma osmolality and absence of nocturia. Patients were discharged from hospital with a median dose of 500μg d^-1 (100–1200μg d^-1). An adjustment in dosage was necessary in seven patients during follow-up, resulting in a final dose of 600μg d^-1. Body weight and DDAVP doses ( r = 0. 75, p = 0. 001) and body surface and DDAVP doses ( r = 0. 72, p < 0. 001) were significantly correlated. The average dosage was 474 ± 222μg m^-2 d^-1 (mean ± SD). The oral DDAVP treatment remained effective during the 3 months of follow-up. This therapy offers an alternative for the treatment of central diabetes insipidus in children.     

Treatment of pitressin sensitive diabetes insipidus in children with clofibrate and carbamazepine

Four children with pitressin sensitive diabetes insipidus were treated with clofibrate and carbamazepine. Both substances significantly reduced daily urine volumes, clofibrate by 40–83%, carbamazepine by 50–70%. The combination of both substances led to a significant further reduction. Long term clinical control of diabetes insipidus was achieved with clofibrate 25–30 mg/kg/day in 2 cases, and by clofibrate 45 mg/kg/day and carbamazepine 6 mg/kg/day in one child. No side effects of the treatment were observed. In healthy adult volunteers, clofibrate inhibited diuresis effectively after acute hydration.This study was partly supported by the Deutsche Forschungsgemeinschaft (Scha 169/3) and by Fa. Rheinpharma, Heidelberg.     

Central diabetes insipidus as presenting symptom of Langerhans cell histiocytosis

BACKGROUND AND OBJECTIVES: Central diabetes insipidus (CDI) is a rare disorder associated with various underlying diseases. Among the systemic diseases that may cause CDI, Langerhans cell histiocytosis (LCH) is the most common. Therefore, in patients with endocrinologically proven CDI, a comprehensive diagnostic evaluation is crucial to identify possible extracranial sites of LCH. The goal of the diagnostic evaluation is to yield histopathological proof of the underlying disease. If possible, this histopathological proof should be provided by a biopsy of extracranial lesions to avoid a potentially hazardous biopsy of the pituitary stalk. STUDY DESIGN: In this retrospective study we included 54 patients registered at the LCH study reference center in whom the onset of CDI preceded the diagnosis of LCH, and we investigated their presentation and course to define a clinical pattern characteristic for LCH. RESULTS: In 49/54 patients (91%) the detection and biopsy of extracranial lesions led to the diagnosis of LCH. The most frequently involved organs were bones, skin, and lungs; 86% of the patients with bone lesions had skull lesions. In 18% of the patients extracranial lesions were already found at presentation of CDI, in another 51% of the patients extracranial lesions were found within 1 year from onset of CDI. CONCLUSIONS: These observations underline that a comprehensive search for extracranial lesions at presentation and during the first year thereafter may help to achieve a specific diagnosis without a pituitary stalk biopsy.     

Central diabetes insipidus in a newborn with deletion of chromosome 7q

Abstract: We report an infant with midline craniofacial defects and holoprosencephaly due to chromosome 46, XY, del (7) (pter →q34) who presented at 1 week of age with central diabetes insipidus. The importance of hypothalamic-pituitary endocrine investigation in patients with this syndrome, and more generally, in patients with midline craniofacial malformation or holoprosencephaly is emphasized. As infants with chromosome 7q deletion bear close phenotypic resemblance to infants of Trisomy 13, chromosomal confirmation and karyotype banding is mandatory to establish an accurate diagnosis and for genetic counselling of their parents.     

Idiopathic central diabetes insipidus in an extreme premature infant: A case report

Context

Central diabetes insipidus (CDI) is a rare disease during the neonatal period, making it diagnosis difficult and delaying medical treatment.

Empty sella syndrome, panhypopituitarism, and diabetes insipidus

We present an 18-month-old girl with short stature, obesity, panhypopituitarism, diabetes insipidus, and visual defects. Postmortem examination revealed brain atrophy due to a diffuse encephalopathy, numerous calcified neurons in cerebral cortex, deep telencephalic and diencephalic nuclei, diffuse neuronal necrosis in hypothalamic nuclei, moderate atrophy of optic nerves, very thin hypophyseal stalk, and empty sella with the hypophysis compressed to the dorsal aspect of the concavity. Our hypothesis is that the presence of an empty sella in a child with hypophyseal-hypothalamic abnormalities should alert physicians to the existence of hypothalamic lesions secondary to a perinatal insult. We discuss the possible pathogenesis of these findings as well as lines of evidence available in the literature.     

Caroli syndrome

We describe a case of Caroli syndrome (Caroli's disease and congenital hepatic fibrosis) in a 10-year-old boy with bilobar involvement and numerous renal cysts. Liver transplantation offers the only hope for such patients. Accepted: 17 May 1999     

Clinical,hormonal and imaging findings in 27 children with central diabetes insipidus

Clinical, auxological, biological and neuroradiological characteristics of 27 children with central diabetes insipidus (CDI) were retrospectively analysed. Median age at diagnosis was 8.6 years (range: 0.3–16.1 years). Final aetiologies were postsurgical infundibulo-hypophyseal impairment (n=7), cerebral tumour (n=8), Langerhans cell histiocytosis (n=3), septo-optic dysplasia (n=1), ectrodactyly ectodermal dysplasia clefting syndrome (n=1), and idiopathic (n=7). In the non-postsurgical CDI patients, major cumulative and often subtle presenting manifestations were: polyuria (n=20), polydipsia (n=19), fatigue (n=11), nycturia (n=10), growth retardation (n=9), and headache (n=9). An associated antehypophyseal insufficiency, mainly somatotropic, was documented in 11 children. All patients except one who initially had a cerebral tomography, underwent magnetic resonance imaging revealing the lack of the physiological posterior pituitary hyperintense signal. One third of the idiopathic patients initially had a thickened pituitary stalk. All patients with idiopathic CDI were intensively followed up with 3-monthly physical examination, antehypophyseal evaluation, search for tumour markers, and cerebral MRI every 6 months. In one of them the pituitary stalk had normalized after 4.3 years. In one patient Langerhans cell histiocytosis was diagnosed after 7 months of follow-up, and in another patient a malignant teratoma was found after 2.4 years of follow-up. Conclusion: CDI may be the early sign of an evolving cerebral process. The association of polyuria-polydipsia should incite a complete endocrine evaluation and a meticulous MRI evaluation of the hypothalamo-hypophyseal region. A rigorous clinical and neuroradiologic follow-up is mandatory to rule out an evolving cerebral process and to detect associated antehypophyseal insufficiencies.     

Nephrogenic diabetes insipidus presenting with developmental delay and intracranial calcification

A one-year-boy presented with constipation, fever, failure to thrive and developmental delay from the neonatal period. Investigations revealed persistent hypernatremia and deranged renal functions. Diagnostic work-up was suggestive of nephrogenic diabetes insipidus (NDI). Computerized tomography of head revealed calcification in the frontal, thalamic and basal ganglia region. The rare association of NDI and intracranial calcification is discussed     

Central diabetes insipidus as a complication of neonatal pathology: Report of three cases

Abstract Three patients. II. 17 and 41 days old with various degrees of central nervous system (CNS) lesions developed central diabetes insipidus as a complication of hypothalamic damage. Two of the children had congenital CNS malformations including meningomyelocele, hydrocephalus, and prosencephaly, while the third child presented Streptococcus agalactiae meningitis, complicated with CNS hemorrhage and hypertensive dilatation of the lateral ventricles. All of them fulfilled the criteria for central diabetes insipidus, reaching high levels of serum sodium and osmolality, along with hypotonic urine. The responses to intranasal arginine-vasopressin were prompt, normalizing the serum levels of sodium and increasing urinary osmolality, allowing a better metabolic balance, avoiding continuing damage to the already compromised CNS. The neonatologist must be aware of the possibility of this kind of complication even in a normal child with CNS infection. Imaging studies showing hemorrhage in the region of the posterior hypothalamus must be a sign that this type of complication is able to occur.     

Course and clinical impact of magnetic resonance imaging findings in diabetes insipidus associated with Langerhans cell histiocytosis

BACKGROUND: Diabetes insipidus (DI) is the most frequent sequela in Langerhans cell histiocytosis (LCH). The clinical relevance and therapeutic impact of brain magnetic resonance imaging (MRI) findings in LCH patients with LCH during the disease course is unclear. PROCEDURE: In this retrospective study, we reviewed 113 brain MRIs from 59 DI patients, in 17 of these serial follow up MR-examination findings were correlated to the clinical course and therapy. RESULTS: At DI diagnosis, 71% patients showed a thickened stalk, in 24% the stalk was still thickened on MRIs done more than 5 years after DI onset, and in two patients the stalk was already thickened several months before DI onset. The changes of the pituitary stalk thickness were highly variable and did not clearly correlate with the treatment. Regression of pituitary thickness on MRI did not concur with clinical recovery of DI, which persisted in all but one patient with initially partial DI. The occurrence of anterior pituitary hormone deficiencies appeared to be linked to a thickening of the stalk at DI diagnosis. LCH-lesions in the craniofacial bones were seen in 75% DI patients, and 76% of DI patients with follow up MRIs done 5 years or longer after DI diagnosis had parenchymal neurodegenerative brain changes. CONCLUSIONS: Our study indicates that repeated MR-examinations in DI patients are of limited value for assessing a response to therapy in the pituitary stalk, but are important for the monitoring of craniofacial bone lesions and for the detection of parenchymal CNS disease.     

Caroli病的影像学诊断及治疗

目的 探讨Caroli病的影像学特征及其治疗.方法 回顾性分析9例Caroli病临床及影像学表现.9例均有CT扫描,其中6例行MRI及MRCP检查.4例行肝叶切除治疗,1例行肝移植治疗,另外4例保守治疗.结果 ①Caroli病Ⅰ型4例,Ⅱ型5例;②典型的影像学特征为肝内胆管囊状扩张,并与胆管相连通,可见"中心点征"及"蝌蚪"征;③肝叶切除术及肝移植治疗效果较好.结论 MRI结合MRCP可对Caroli病准确诊断及分型.并对病变范围及程度进行准确评估.Caroli病的治疗措施是尽可能的手术切除病灶,无法切除者应考虑肝移植治疗.     

中枢性尿崩症50例病因及治疗分析

目的　探讨小儿中枢性尿崩症的病因及治疗措施。方法　对中枢性尿崩症 5 0例患儿临床资料、实验室检查结果、病因及治疗方法进行总结。结果　 1.病因 :以特发性居多 ,继发性中以肿瘤为最多见 ,遗传性仅 1例。 2 .治疗 :肿瘤以手术及放疗为主 ,其他以补充激素为主。结论　对中枢性特发性尿崩症患儿应询问家族史 ,其中有些病例可能属遗传性中枢性尿崩症 ,因抗利尿激素基因突变所致。MRI对早期诊断及追踪治疗有重要意义。弥凝替代治疗安全有效     

小儿脑死亡并中枢性尿崩症

目的了解小儿脑死亡合并中枢性尿崩症(DI)的临床特点。 方法对北京儿童医院PIC17例脑死亡患儿的临床资料进行分析。 结果本组DI脑死亡儿发生率为59％(10／17),原发病以颅内感染为主。DI多在脑死亡前24h内出现,其发生与年龄、心肺复苏无明显相关性。垂体加压素可使DI患儿尿量明显减少。 结论DI是小儿脑死亡较常见的特殊临床表现之一,但并非脑死亡的必备特征。     

A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney

In congenital nephrogenic diabetes insipidus (NDI) blunted responses of plasma factor VIII, von Willebrand factor, and plasminogen activator to the synthetic V₂ analogue 1-desamino-8-d-arginine vasopressin (DDAVP) have been reported. In addition, vasodilatory responses to DDAVP appear to be absent in NDI. We describe a boy, who presented shortly after birth with the typical features of NDI, but who showed normal coagulation, fibrinolytic and vasodilatory responses to DDAVP. We conclude that in this patient the defect is confined to the kidney, while in other NDI patients there may be a general V₂ receptor abnormality. These findings point to heterogeneity in NDI.     

Acquired central diabetes insipidus in children: a 12-year Brisbane experience

OBJECTIVE: To study the clinical, endocrine and radiological features and progress of children presenting with acquired diabetes insipidus (CDI). METHODOLOGY: Chart review of children presenting because of CDI to Brisbane paediatric endocrine clinics between 1987 and 1999. RESULTS: Thirty-nine children (female/male ratio 21/18) aged 0.1-15.4 years (mean age 6.7 years) were identified. Aetiologies were head trauma or familial in eight cases (20.5%) each, central nervous system (CNS) tumours in five cases (12.8%), CNS malformations in four cases (10.2%), histiocytosis in three cases (7%) and hypoxia and infection in two cases (5.1%) each. Seven cases (17.9%) remain undiagnosed. Of the 32 (82%) cases with isolated anti-diuretic hormone deficiency at presentation, 24 cases (61.5%) experienced no further endocrine deficit. Additional endocrine deficits occurred mainly in the tumour or undiagnosed groups. On follow-up brain magnetic resonance imaging (MRI) scans in the seven undiagnosed cases, six patients had mild or no change and one patient had marked improvement of MRI findings. These changes occurred 10-48 months (mean 18 months) after presentation. CONCLUSIONS: Children without an aetiological diagnosis for the uncommon condition of acquired CDI require careful follow-up. More intensive investigation at presentation (e.g. estimation of cerebrospinal fluid human chorionic gonadotrophin) promises to lessen the number of such cases. Pituitary stalk biopsies should be reserved for those patients with progressive MRI changes. If these changes do not occur early, our experience suggests that follow-up MRI scans may need to be performed only yearly.     

A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction

A case of a 6 year old boy with Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction is reported. Magnetic resonance imaging revealed abnormal findings of the pituitary gland and stalk. Good catch-up growth was obtained by treatment with growth hormone. These findings suggest that hypothalamic-pituitary dysfunction might be involved in Kabuki make-up syndrome.