Spontaneous Regression of Tumor in an Optic Pathway Glioma Patient With Diencephalic Syndrome: Case Report and Literature Review

Background: Diencephalic syndrome (DS) can cause failure to thrive in pediatrics, which is mostly found in optic pathway gliomas (OPGs) patients. OPGs patients with DS always show a poor outcome. Case presentation: We present the case of an OPG patient with DS who got a spontaneous regression without any treatment. A 6-month-old girl presented with failure to thrive for two months and visual dysfunction with bilateral horizontal nystagmus. MRI demonstrated a 42mm*37mm*36mm enhanced and lobulated lesion located in the sellar region with a clear boundary with surrounding tissues. OPG and DS was diagnosed according to her radiological examination and manifestation. Conservative follow-up was given. There was a spontaneous decrease in tumor size during follow-up. Symptom improves and the patient continues to have a good quality of life despite a moderate dysfunction of her left eye.Conclusions: Conservative observation can be used as a treatment for some OPG patients, body weight may be a marker of the growth of tumor in OPG patients with DS.

Endocrine Conditions in Neurofibromatosis 1

Neurofibromatosis 1 (NF1) is an autosomal-dominant multisystemic neurocutaneous disorder primarily affecting the skin, bone and the nervous system. It has been long appreciated that NF1 is often associated with endocrine disorders. In this chapter, we will discuss the endocrine disorders associated with NF1. The most common endocrinological disorders in NF1 are short stature with or without growth hormone deficiency, central precocious puberty, growth hormone excess. Less common endocrine-related conditions in NF1 include gynecomastia, diencephalic syndrome and the presence of endocrine tumors like pheochromocytoma.

PEDIATRIC OPTIC PATHWAY GLIOMA: DIENCEPHALIC SYNDROME

Diencephalic cachexia (DC ) is a metabolic disorder characterized by a decrease in body weight. DC usually occurs in the presence of glioma brain tumors extended into the optic pathway. These tumors are very aggressive and have poor prognosis.Objective: to analyze the clinical course of optic pathway gliomas (OPG s) in patients with and without DC .Material and Methods. The study included 264 patients aged 0 to 18 years with an initial diagnosis of OPG s registered in the N.N. Burdenko National Medical Research Center of neurosurgery from 01/01/2003 to 12/31/2015. Patients were divided into two groups: without DC (204 people) and with DC (60 children). Results: neurofibromatosis type I (NFI) was much more common in children without DC , and pilomyxoid histology was much more prevalent in children with DC . Five-year overall survival (OS ) and event-free survival EFS were significantly lower in children with DC than in children without DC (82 ± 5 % and 96 ± 1 %, respectively versus 37 ± 7 % and 62 ± 3 %, respectively). It was found that in the DC group, the OS and EFS rates were significantly lower in girls, in children without NFI, in children without histological verification and in children with pilocytic astrocytomas. It was also found that in the DC group, OS rates were significantly lower in children under 1 year, and EFS rates were significantly lower in children aged more than 12 months. The number of patients without events were significantly higher in the group without DC (p=0.001). The number of deaths in the postoperative period was significantly higher in children with DC (p<0.001). Diabetes insipidus and hyponatremia were significantly more common in patients with diencephalic cachexia, and vision improvement after treatment was significantly more likely to occur in patients without DC .Conclusion. OPG s in patients with DC have a more aggressive clinical course, which requires more careful treatment and observation.

SURG-20. DIENCEPHALIC SYNDROME IN PEDIATRIC NEUROSURGERY

This report details the histories of twelve patients with clinical diencephalic syndrome who collectively demonstrate the variability found in the syndrome with respect to: (1) clinical course, (2) site of the tumor, and (3) ease of obtaining radiologic confirmation of the presence of a tumor. Timely diagnosis of diencephalic syndrome is not often the case for patients presenting with failure to thrive (FTT) because of its rarity and lack of specific symptoms. These cases illustrate the importance of cranial imaging and consideration of diencephalic syndrome for children presenting with FTT despite normal or increased caloric intake.

OTHR-14. DIENCEPHALIC SYNDROME SECONDARY TO PITUITARY STALK THICKENING

BACKGROUND Diencephalic syndrome (DS) is a rare condition associated with neoplastic lesions of the sellar-suprasellar region, whose pathophysiological mechanisms are still unclear. DS occurs in &lt;10% of hypothalamic gliomas and has also been described in suprasellar germinomas, craniopharyngiomas, epidermoid cysts, rarely with non-suprasellar lesions such as brainstem gliomas. DS has not been associated with isolated pituitary stalk thickening. Isolated pituitary stalk thickening (IPST) presents a diagnostic challenge, ranging from benign (craniopharyngioma) to malignant lesions (germinoma, metastasis, histiocytoses of the Langerhans group). The coexistence of diabetes insipidus (DI) with anterior pituitary dysfunction and IPST implies more risk to harbor neoplasia. CASE REPORT: A 6-year old girl presented with DI and inadequate weight gain (despite regular caloric intake) and preservation of linear growth. Neurological examination showed no abnormalities. However, physical examination revealed a malnourished patient (both weight-for-age value and body-mass-index below the third percentile). Blood tests and negative IgA anti-endomysial antibodies excluded malabsorption as a cause of her malnutrition; endocrine work-up excluded thyroid dysfunction, growth hormone deficiency, and adrenal insufficiency. Magnetic resonance imaging (MRI) showed thickening of the pituitary stalk with a transverse diameter of 7 mm. The patient underwent a biopsy through a supraorbital eyebrow approach. Histopathological examination revealed lymphocytic hypophysitis, with tissue markers all negative for germinoma. The girl is currently under follow up with serial MRI every three months. CONCLUSION DS should be considered as a differential diagnosis in any child with failure to thrive, and imaging studies should be performed even if there are no additional neurological symptoms.

Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study

Context Up to 20% of children with neurofibromatosis type 1 (NF1) develop low-grade optic pathway gliomas (OPGs) that can result in endocrine dysfunction. Data on prevalence and type of endocrine disorders in NF1-related OPGs are scarce. Objectives The aim of the study was to determine the prevalence of endocrine dysfunctions in patients with NF1 and OPGs and to investigate predictive factors before oncological treatment. Design Multicenter retrospective study. Settings and patients Records were reviewed for 116 children (64 females, 52 males) with NF1 and OPGs followed at 4 Italian centers. Main outcome measures We evaluated endocrine function and reviewed brain imaging at the time of OPG diagnosis before radio- and chemotherapy and/or surgery. OPGs were classified according to the modified Dodge classification. Results Thirty-two children (27.6%) with a median age of 7.8 years had endocrine dysfunctions including central precocious puberty in 23 (71.9%), growth hormone deficiency in 3 (9.4%), diencephalic syndrome in 4 (12.5%), and growth hormone hypersecretion in 2 (6.2%). In a multivariate cox regression analysis, hypothalamic involvement was the only independent predictor of endocrine dysfunctions (hazard ratio 5.02 [1.802-13.983]; P = .002). Conclusions Endocrine disorders were found in approximately one-third of patients with Neurofibromatosis type 1 and OPGs before any oncological treatment, central precocious puberty being the most prevalent. Sign of diencephalic syndrome and growth hormone hypersecretion, although rare, could be predictive of optic pathway gliomas in NF1. Tumor location was the most important predictor of endocrine disorders, particularly hypothalamic involvement.