Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants

  • Kim, Ahlee (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Moon, Jin Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Yang, Hye Ran (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Chang, Ju Young (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ko, Jae Sung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Seo, Jeong Kee (Department of Pediatrics, Seoul National University College of Medicine)
  • Received : 2014.06.02
  • Accepted : 2014.08.28
  • Published : 2015.01.10
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Abstract

Purpose: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. Methods: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. Results: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was $18{\pm}10.5$ months, and diagnosis after symptom onset was made at the mean age of $11{\pm}9.7$ months. The mean z score was $-3.15{\pm}1.14$ for weight, $-0.12{\pm}1.05$ for height, $1.01{\pm}1.58$ for head circumference, and $-1.76{\pm}1.97$ for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. Conclusion: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

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