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Case Reports
. 2017 Jul 6:2017:bcr2017220171.
doi: 10.1136/bcr-2017-220171.

Diencephalic syndrome: a rare cause of failure to thrive

Mustafa Tosur  1 , Anca Tomsa  1 , David L Paul  1
Affiliations
Case Reports

Diencephalic syndrome: a rare cause of failure to thrive

Mustafa Tosur et al. BMJ Case Rep. .

Abstract

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.

Keywords: failure to thrive; infant health.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
The patient’s picture before and after onset of symptoms.
Figure 2
Figure 2
Brain MRI postcontrast T1W sagittal image.
Figure 3
Figure 3
Brain MRI precontrast T1W sagittal image.
See this image and copyright information in PMC

References

    1. Russell A. A diencephalic syndrome of emaciation in infancy and childhood. Arch Dis Child 1951;26:274–80.
    1. Fleischman A, Brue C, Poussaint TY, et al. Diencephalic syndrome: a cause of failure to thrive and a model of partial growth hormone resistance. Pediatrics 2005;115:e742–e748. 10.1542/peds.2004-2237 - DOI - PubMed
    1. Poussaint TY, Barnes PD, Nichols K, et al. Diencephalic syndrome: clinical features and imaging findings. AJNR Am J Neuroradiol 1997;18:1499–505. - PMC - PubMed
    1. Brauner R, Trivin C, Zerah M, et al. Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. J Clin Endocrinol Metab 2006;91:2467–73. 10.1210/jc.2006-0322 - DOI - PubMed
    1. Kim A, Moon JS, Yang HR, et al. Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants. Korean J Pediatr 2015;58:28–32. 10.3345/kjp.2015.58.1.28 - DOI - PMC - PubMed

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