Diencephalic Syndrome in a Pediatric Patient with a Suprasellar Lesion: Case Report and Review of Literature
Schlagworte:
Diencephalic syndrome, failure to thrive, suprasellar tumorAbstract
Summary
Diencephalic syndrome (DES) is an exceedingly rare condition with about 100 cases reported in literature. It presents as failure to thrive (FTT) in pediatric patients associated with central nervous neoplastic lesions in the suprasellar region. Its characteristic signs and symptoms are related to hypothalamic dysfunction, viz, emaciated body, normal linear growth, normal or precocious intellect, hyperalertness, hyperkinesia and euphoria. Such non-specific presentation usually delays diagnosis of the brain lesion. Herein, we present the case of a 3-year-old girl with diencephalic syndrome who presented to our neurosurgical unit. She had been earlier managed for malnutrition and presumed Pulmonary Tuberculosis without much improvement. Further management by the pediatric endocrinologist without change in condition prompted brain imaging. Brain MRI showed a large, avidly enhancing hyper-intense suprasellar lesion. Right pterional craniotomy with subtotal resection was done. Histopathology confirmed Hypothalamic Pilocytic Astrocytoma (WHO Grade 1) and the patient was referred to pediatric oncology for further management.
Literaturhinweise
Stival A, Lucchesi M, Farina S, Buccoliero AM, Castiglione F, Genitori L et al. An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. BMC Cancer2015;15:616.
Kim A, Moon JS, Yang HR, Chang JY, Ko JS, Seo JK. Diencephalic syndrome: a frequently neglected cause of failureto thrive in infants. Korean J Pediatr 2015;58:28-32.
Olsen EM, Petersen J, Skovgaard AM, Weile B, Jorgensen T, Wright CM. Failure to thrive: the prevalence and concurrence of anthropometric criteria in a general infant population. Arch Dis Child 2007;92:109-14.
Russell A. A diencephalic syndrome of emaciation in infancy and childhood. Arch Dis Child 1951;26:274.
Addy DP, Hudson FP. Diencephalic syndrome of infantile emaciation. Analysis of literature and report of further 3 cases. Arch Dis Child 1972;47:338-43.
Fleischman A, Brue C, Poussaint TY, Kieran M, Pomeroy SL, Goumnerova L, et al. Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. Pediatrics 2005;115:e742-8.
Tosur M, Tomsa A, Paul DL. Diencephalic syndrome: a rare cause of failure to thrive. BMJ Case Rep. 2017;Jul 6:2017. doi:10.1136/bcr-2017- 220171
Klochkova IS, Astaf’eva LI, Konovalov AN, Kadashev BA, Kalinin PL, Sharipov OI, et al. A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma. Zh VoprNeirokhir Im N N Burdenko 2017;81:84-95.
Satyarthee GD, Chipde H. Diencephalic syndrome as presentation of giant childhood craniopharyngioma: Management review. J Pediatr Neurosci 2018;13:383-7.
Pelc S. The diencephalic syndrome in infants. A review inrelation to optic nerve glioma. Eur Neurol 1972;7:321-34.
Brauner R, Trivin C, Zerah M, Souberbielle JC, Doz F, Kalifa C, et al. Diencephalic syndrome due to hypothalamic tumor: amodel of the relationship between weight and puberty onset. JClin Endocrinol Metab 2006;91:2467-73.
Velasco P, Clemente M, Lorite R, Ventura MC, Gros L, Toledo JS, et al. The role of leptin in diencephalic syndrome.Pediatrics 2014;133:e263–e266.
Drop SL, Guyda HJ, Colle E. Inappropriate growth hormone release in the diencephalic syndrome of childhood: case reportand 4 year endocrinological follow-up. Clin Endocrinol (Oxf)1980;13:181-7.
Goldbloom RB. Failure to thrive. Pediatr Clin North Am 1982;29: 151-66.
Gropman AL, Packer RJ, Nicholson HS, Vezina LG, Jakacki R, Geyer R, et al. Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. Cancer 1998;83:166-72.
Duffner P, Horowitz M, Krischer P, Friedman H, Burger P, Cohen M. Postoperative chemotherapy and delayed radiation in children less than three years of age with malignant brain tumors. N Engl J Med. 1993;328:1725–31.
Duffner PK. Long-term effects of radiation therapy on cognitive and endocrine function in children with leukemia and brain tumors. Neurologist 2004;10:293-310.
Sardi I, Bresci C, Schiavello E, Biassoni V, Fratoni V, Cardellicchio S, et al. Successful treatment with a low-dose cisplatin-etoposide regimen for patients with diencephalic syndrome. J Neurooncol. 2012;109:375–83.
Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, et al. Analysis of BRAF V600E mutation in 1, 320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol.2011;121:397–405.
Downloads
Veröffentlicht
Zitationsvorschlag
Ausgabe
Rubrik
Lizenz
Copyright (c) 2022 East African Journal of Neurological Sciences
Dieses Werk steht unter der Lizenz Creative Commons Namensnennung - Nicht-kommerziell - Keine Bearbeitungen 4.0 International.
