Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Diencephalic syndrome

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.

Severe failure to thrive

Total: 2

(per page)

PMID (PMCID)
27872228	FEMALE	Infant
	Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor.
	Conway M, Ejaz R, Kouzmitcheva E, Savlov D, Rutka JT, Moharir M. Neurology. 2016;87(21):e248-e251.
	The neurologic signs frequently reported in patients with diencephalic syndrome were absent; however, severe failure to thrive was present.
27872228	FEMALE	Infant
	Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor.
	Conway M, Ejaz R, Kouzmitcheva E, Savlov D, Rutka JT, Moharir M. Neurology. 2016;87(21):e248-e251.
	Diencephalic syndrome is a rare clinical entity, traditionally encompassing severe failure to thrive, nystagmus, and hyperkinesis, secondary to an intracranial neoplasm that is classically located in the hypothalamic region and its vicinity.