Diencephalic Cachexia - Rare Yet Crucial Entity

Diencephalicor Russell’s syndrome is characterized by profound emaciation during infancy despite normal or slightly reduced calorie intake, nystagmus and hyperkinesis due to intracranial neoplasm involving anterior hypothalamus or optico-chiasmatic glioma.¹ This article emphasizes on an exceptional yet significant reason for cachexia which often leads to delayed diagnosis.
Diagnosis of DES is based on the major criteria comprising of emaciation, locomotor hyperactivity, euphoria and minor criteria which are skin pallor, hypotension and hypoglycemia.^2,3 Pathogenesis of weight loss include the hypothesis of elevated growth hormone (GH) level with paradoxical response to a glucose load, partial GH resistance and excess of ß-lipotropin (lipolytic peptide produced in excess by primary neoplasm or due to secondary effect of invasion), resulting into fat breakdown and complete loss of subcutaneous adipose tissue.⁴ DES occurs due to mass effect caused by glioma in the sellar–suprasellar hypothalamic region. This also results into decreased visual acuity and visual fields in 65% of patients. MRI remains the diagnostic modality while surgery is the mainstay of treatment with adjuvant chemotherapy and radiotherapy. Pediatricians must keep DES as one of the differential diagnosis of unexplained inability to gain weight.

Contributors’ Statement
SS, SK, and AS conceptualized the perspective, drafted the manuscript. SS, Isha, and KS reviewed and revised the initial manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

References :

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. Poussaint TY, Barnes PD, Nichols K, Anthony DC, Cohen L, Tarbell NJ, et al. Diencephalic syndrome: clinical features and imaging findings. JNR Am J Neuroradiol 1997;18:1499-505. 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.