RT Journal Article
SR Electronic
T1 Diencephalic syndrome: a rare cause of failure to thrive
JF BMJ Case Reports
FD BMJ Publishing Group Ltd
SP bcr-2017-220171
DO 10.1136/bcr-2017-220171
VO 2017
A1 Mustafa Tosur
A1 Anca Tomsa
A1 David L Paul
YR 2017
UL http://casereports.bmj.com/content/2017/bcr-2017-220171.abstract
AB 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. Herein, we report two cases of diencephalic syndrome (2-year-old girl and 10-month-old boy) presenting with severe emaciation. Both patients had histories of poor weight gain for months despite having good appetites prior to diagnosis. Initial work-up did not reveal the diagnosis. Horizontal nystagmus was noted in both patients: by a neurologist in the first patient and by a family member in the second patient. MRI of the brain showed large suprasellar mass and pilocytic astrocytoma was confirmed by pathology in each case. The patients were started on appropriate chemotherapy with interval improvements in weight gain. These cases illustrate the importance of cranial imaging and consideration of diencephalic syndrome for children presenting with FTT despite normal or increased caloric intake.