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Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance Fleischman A; Brue C; Poussaint TY; Kieran M; Pomeroy SL; Goumnerova L; Scott RM; Cohen LEPediatrics 2005[Jun]; 115 (6): e742-8Diencephalic syndrome is a rare but potentially lethal cause of failure to thrive in infants and young children. The diencephalic syndrome includes clinical characteristics of severe emaciation, normal linear growth, and normal or precocious intellectual development in association with central nervous system tumors. Our group initially described a series of 9 patients with diencephalic syndrome and found a reduced prevalence of emesis, hyperalertness, or hyperactivity compared with previous reports. Also, the tumors were found to be larger, occur at a younger age, and behave more aggressively than similarly located tumors without diencephalic syndrome. We have been able to extend our follow-up of the original patients, as well as describe 2 additional cases. Because the mechanism of the growth and endocrinologic findings in diencephalic syndrome has not been explained, we report on these patients in light of current research on hypothalamic factors that affect growth and weight. This study emphasizes diencephalic syndrome as a model for additional study of growth hormone resistance and metabolic regulation of adiposity.|Astrocytoma/*complications/diagnosis/pathology/physiopathology/secondary[MESH]|Celiac Disease/diagnosis[MESH]|Child, Preschool[MESH]|Diagnostic Errors[MESH]|Diencephalon/*pathology[MESH]|Disease Progression[MESH]|Emaciation/*etiology[MESH]|Failure to Thrive/*etiology[MESH]|Female[MESH]|Human Growth Hormone/blood/metabolism/*physiology[MESH]|Humans[MESH]|Hydrocortisone/blood[MESH]|Hyperkinesis/etiology[MESH]|Hypothalamic Neoplasms/*complications/diagnosis/pathology/physiopathology[MESH]|Infant[MESH]|Insulin-Like Growth Factor I/analysis[MESH]|Male[MESH]|Models, Biological[MESH]|Nystagmus, Pathologic/etiology[MESH]|Retrospective Studies[MESH]|Spinal Cord Neoplasms/secondary[MESH]|Syndrome[MESH]|Vomiting/etiology[MESH] |
