Hydranencephaly complicated by central diabetes insipidus: report of two cases and systematic review of literature.

PURPOSE: Hydranencephaly is a congenital condition characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia, while central diabetes insipidus (CDI) is a condition characterized by the inability to concentrate urine due to a deficiency in antidiuretic hormone (ADH). CDI is known to occur in midline congenital malformations such as holoprosencephaly and septo-optic dysplasia, but its association with hydranencephaly is less well-established. METHODS: We reported two cases of hydranencephaly complicated by CDI. We also performed a systematic review of the SCOPUS and PubMed databases for case reports and case series of patients with hydranencephaly and CDI, and compiled data on the clinical features and treatment options. RESULTS: Seven cases of hydranencephaly complicated by CDI were identified from the systematic review in addition to the two cases reported here, resulting in a total of nine cases. The patients' age ranged from 4 days to 4 years, and there was a female sex predilection (3.5:1). Patients most commonly presented with macrocephaly, developmental delay, and seizures, with dysmorphic features noted in 33%. In addition to CDI, other endocrinologic derangements included hypothyroidism (22%), hypocortisolemia (22%), and panhypopituitarism (22%). CDI was treated using sublingual or oral desmopressin while hypopituitarism was treated with the appropriate hormone replacement therapy. Insertion of a ventriculoperitoneal (VP) shunt was reported in 44% of cases. CONCLUSION: The case reports and systematic review suggest a previously unknown association between hydranencephaly and CDI. Clinicians managing cases of hydranencephaly are advised to have a high index of suspicion for CDI in patients presenting with the characteristic signs and symptoms.

Refractory diabetes insipidus following drainage of chronic subdural haematoma.

BACKGROUND: Post-traumatic diabetes insipidus (DI) is a relatively common complication after head injury. The authors report a fatal case of refractory DI, which developed in a patient with chronic subdural haematoma. CASE HISTORY: A 38-year-old woman presented to the emergency room with a headache for over a week. She was alert and neurological examination demonstrated no significant deficits or external wounds in her head. Brain computed tomography (CT) scans revealed a small amount of chronic subdural haematoma bilaterally. She was treated conservatively and her hospital course was uneventful until she developed a convulsive seizure and mental change on the 3rd day after admission. Immediate follow-up CT scans showed no significant change in the amount of haemorrhage except effacement of gyral marking. Bilateral trephination and drainage of the haematoma were performed immediately. Post-operatively, she developed a refractory DI and was managed in the intensive care unit. However, she died on the 6th day after the operation ultimately. CONCLUSION: The authors emphasize the importance of timely drainage of chronic subdural haematoma to prevent a fatal endocrinologic complication after head injury. This study also discusses the possible mechanism of DI after head injury, management and review of the pertinent literatures.

Clinical and pathological features of 124 patients with indistinguishable sellar lesions and central diabetes insipidus.

BACKGROUND: Sellar lesions with central diabetes insipidus have a wide range of causes, and diagnosis is relatively difficult. The indication and clinical value of biopsy are still controversial. OBJECTIVE: To describe the etiology, demographic characteristics, manifestations, laboratory tests and imaging findings of this disease and to explore the clinical value and safety of endoscopic transsphenoidal biopsy. METHODS: Retrospective analysis of 124 patients with sellar lesions and central diabetes insipidus who underwent endoscopic transsphenoidal biopsy at the Neurosurgery Department, Peking Union Medical College Hospital, from 2011 to 2019. RESULTS: The main etiology includes congenital diseases, inflammatory/infectious diseases and tumor diseases. The most common diseases were germ cell tumors, Langerhans cell histiocytosis, lymphocytic hypophysitis, and Rathke's cleft cysts. Except for the age at the time of biopsy of patients with tumor diseases, which was significantly lower than that of the other two, the other clinical manifestations of the three types of diseases were not significantly different. Among the 124 patients, biopsy was performed via an endoscopic transsphenoidal approach for 101 with intrasellarly available lesions or via an endoscopic extended transsphenoidal approach for 23 with intrasellarly unavailable lesions. 6 patients had central nervous system infections after surgery, and 3 had cerebrospinal fluid rhinorrhea, of which 2 were surgically repaired. These incidences were basically the same as those of classic surgery. 2 patients had worse visual acuity, 2 had worse visual field, and 2 had worse eye movement. Excepting one patient, all of whom have recovered after treatment. CONCLUSIONS: Noninvasive examination is difficult for identifying the common causes of this type of disease. Endoscopic transsphenoidal biopsy is relatively safe and effective, helps doctors to select the best treatment for patients, and is worth promoting.

Clinical Characteristics of Pediatric Patients With Sellar and Suprasellar Lesions Who Initially Present With Central Diabetes Insipidus: A Retrospective Study of 55 Cases From a Large Pituitary Center in China.

Purpose: To increase knowledge for the early differential diagnosis and accurate therapeutic strategies for pediatric patients with sellar or suprasellar region (SSR) lesions who initially present with central diabetes insipidus (CDI). Methods: This is a retrospective review of 55 pediatric patients (≤14 years old) with identified lesions in the SSR who initially presented with CDI at a large pituitary center between 2012 and 2018. The following data were summarized: demographic, clinical, endocrine, and neuroimaging data, intraoperative findings, histopathological findings, treatments, and prognosis. Results: In our group, the etiologies of the SSR lesions included germ cell tumors (GCTs, 74.5%), Langerhans cell histiocytosis (LCH, 18.2%), and craniopharyngioma (CP, 7.3%). Almost all patients (50/55, 90.9%) showed anterior pituitary dysfunction [multiple axes dysfunction (38), and isolated axis dysfunction (14)], while the GH/IGF-I axis was the most affected. Most GCT patients presented with various clinical manifestations besides CDI and had elevated ß-HCG, whereas LCH and CP patients mostly presented few non-specific symptoms besides CDI and most had normal level tumor markers. Sellar MRI demonstrated that posterior pituitary bright spot disappearance occurred in all patients, and pituitary stalk thickening was observed in 96.7% of patients. Treatment varied due to the different etiologies of the SSR lesions. After follow-up for 35.4 ± 20.2 months, the proportions of patients who needed AVP (arginine vasopressin) for GCT, LCH, and CP were 86.5, 100, and 75%, respectively, and the proportions of patients who needed HRT were 89.2, 50, and 75%, respectively. Conclusion: For pediatric SSR lesions that first manifest as CDI, we should comprehensively consider clinical characteristics and imaging features to aid in their early differential diagnosis. Tumor markers and surgical histopathology are also great complements for the differential diagnosis. Additionally, various treatment strategies should be adopted according to different causes to improve the child's prognosis and quality of life.

Suprasellar Epidermoid Cyst with Atypical Imaging Findings.

A 65-year-old female presented with progressive unilateral vision loss leading to blindness and features of central diabetes insipidus (DI) for 3 months' duration. Imaging showed a well-circumscribed, lobulated, rim-enhancing suprasellar lesion with inhomogeneous diffusion restriction. Through a pterional trans-sylvian approach, subtotal resection was performed and histopathology revealed features of an epidermoid cyst. At 5 months' follow-up, she had improvement of her diabetes insipidus but no visual improvement. This paper presents a case of suprasellar epidermoid with atypical imaging findings.

Surgical implications of the thickened pituitary stalk accompanied by central diabetes insipidus.

OBJECT: The authors discuss the indications for and timing of a diagnostic neurosurgical procedure in children with diabetes insipidus (DI) and a thickened pituitary stalk (TPS) on magnetic resonance (MR) imaging. METHODS: Seven children with a TPS who presented with DI eventually underwent surgery for diagnostic purposes. The ages at onset of DI were 6 to 16 years, and the follow-up period until surgery was 26.9 +/- 11.9 months. In four of seven children, the stalk appeared normal on the first MR image, but it was thickened and variably enhancing on later images in all instances. The reason for eventual surgery was endocrinological deterioration in two of seven children, radiological progression in two children, and a combination of the two in three children. Three children experienced visual disturbances and four children had optic nerve, chiasma, or hypothalamus involvement. All children suffered additional endocrinological abnormalities pursuant to the initial DI. A definitive diagnosis was achieved in six of seven children: germinomas in five and Langerhans cell histiocytosis in one. One child had lymphocytic infiltrate. None of the children deteriorated neurologically or endocrinologically after the operation. On follow up, vision deficit was irreversible in all children who demonstrated visual abnormalities before treatment. CONCLUSIONS: Surgery should be performed in children with a TPS and DI for early diagnosis and disease-oriented therapy when there is further endocrinological, radiological, or clinical deterioration. The complication rate is low in open biopsies, and histological diagnosis is achieved in most of the cases. All children who present with central DI must undergo head MR imaging, and even if results are normal, close radiological and clinical follow up is mandatory.

Postoperative Copeptin Concentration Predicts Diabetes Insipidus After Pituitary Surgery.

CONTEXT: Copeptin is a stable surrogate marker of vasopressin release; the peptides are stoichiometrically secreted from the neurohypophysis due to elevated plasma osmolality or nonosmotic stress. We hypothesized that following stress from pituitary surgery, patients with neurohypophyseal damage and eventual diabetes insipidus (DI) would not exhibit the expected pronounced copeptin elevation. OBJECTIVE: The objective was to evaluate copeptin's accuracy to predict DI following pituitary surgery. DESIGN: This was a prospective multicenter observational cohort study. SETTING: Three Swiss or Canadian referral centers were used. PATIENTS: Consecutive pituitary surgery patients were included. MEASUREMENTS: Copeptin was measured postoperatively daily until discharge. Logistic regression models and diagnostic performance measures were calculated to assess relationships of postoperative copeptin levels and DI. RESULTS: Of 205 patients, 50 (24.4%) developed postoperative DI. Post-surgically, median [25th-75th percentile] copeptin levels were significantly lower in patients developing DI vs those not showing this complication: 2.9 [1.9-7.9] pmol/L vs 10.8 [5.2-30.4] pmol/L; P < .001. Logistic regression analysis revealed strong association between postoperative copeptin concentrations and DI even after considering known predisposing factors for DI: adjusted odds ratio (95% confidence interval) 1.41 (1.16-1.73). DI was seen in 22/27 patients with copeptin <2.5 pmol/L (positive predictive value, 81%; specificity, 97%), but only 1/40 with copeptin >30 pmol/L (negative predictive value, 95%; sensitivity, 94%) on postoperative day 1. LIMITATIONS: Lack of standardized DI diagnostic criteria; postoperative blood samples for copeptin obtained during everyday care vs at fixed time points. CONCLUSIONS: In patients undergoing pituitary procedures, low copeptin levels despite surgical stress reflect postoperative DI, whereas high levels virtually exclude it. Copeptin therefore may become a novel tool for early goal-directed management of postoperative DI.