Long term endocrinological follow up in diencephalic syndrome

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 632-648-Pediatric Growth Case Reports
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-641
Maria Parpagnoli*, Iacopo Sardi, Stefania Cardellichio, Silvia La Farina, Salvatore Seminara and Maurizio deMartino
Meyer Children Hospital, Florence, Italy
Diencephalic syndrome (DS),diencephalic cachexia or Russell syndrome, is a rare,rapidly fatal condition, usually occurring during the first year of life, as a result of a hypothalamic dysfunction due to hypothalamic/ chiasmatic tumors, as pilocytic and pilomyxoid astrocytoma. Clinical features of DS are weight loss leading to cachexia despite a normal caloric intake, hyperalertness, hyperkinesis, euphoria.Growth rate usually is still linear. Treatment of DS is strictly related to treatment of the hypothalamic lesion.DS clinical signs and symptoms regress when the tumor is surgically removed or reduced by non-surgical therapy.Cytokines ,tumor-derived compounds, peptides and/or neuropeptides, neurotransmitters and hormones may interact with cytokines. Partial GH resistance in DS patients has been observed.We describe 8 pediatric patients, 4 m and 4 f (median age at diagnosis of 6.5 months ,range 4–60) followed at Meyer Children Hospital between 2004 and 2009, for DS as a result of an hypothalamic tumor. One patient had NF1.Surgical treatment was based on tumor location and extent. Each patient received 10 monthly courses of cisplatin and etoposide and nutritional support.Weight, length, head circumference  and baseline endocrine function ( IGF1, fTH, ,fT4, cortisol, prolactin, ACTH and ADH )was evaluated for all DS patients before surgery and at the end of therapy. IGF1 rose to normal levels for two of the three patients who had an undetectable value at diagnosis.Thyroid function was normal for every patient. Early morning cortisol levels  remained lower than normal for two patients, increased  to normal levels for one patient and decreased below normal values for two. Basal prolactin value was higher than normal threshold at diagnosis, without any decrease at the end of the treatment. Two patients had marked increases in prolactin levels after treatment.Patients may develop increased prolactin levels from achange in pituitary gland function and/or compression of the pituitary stalk because of the rehash of tumor tissue after chemotherapy. ADH blood level remained lower than normal for four patients.  At standard follow-up (2 years after cessation of chemotherapy) we did not find any clinic endocrinological abnormality. Prolonging follow-up over the standard  time endocrine dysfunction developed in 2/8 patients . One  had  diabetes insipidus and the other– the one with NF1-  a short stature with a GH deficit. As previously reported by other studies, endocrinological data of our patients did not reveal any significant trend or correlation with the therapy immediately after treatment. But a longer  follow-up revealed one ADH and one GH deficit.We conclude that a longer  follow-up is  necessary  not only to better define long-term effectiveness of this low-dose cisplatin–etoposide regimen in the recovery of DS patients with hypothalamic tumors, but also to be able to recognise endocrine deficits.

Nothing to Disclose: MP, IS, SC, SL, SS, MD

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