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Pediatric Oncall Journal

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Diencephalic Cachexia - Rare Yet Crucial Entity

Seema Sharma1, Sandeep Kumar1, Ayush Sopori1, Isha A1, Kavya Sharma2.
1Department of Pediatrics, Dr Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India,
2MM Medical College, Solan, Himachal Pradesh, India.

ADDRESS FOR CORRESPONDENCE
Dr. Seema Sharma, Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India.
Email: seema406@rediffmail.com
Keywords
Diencephalic Cachexia, Diencephalic Syndrome, DES

A 5 months old female infant born of non-consanguineous marriage presented with complaints of not gaining weight (<3rdpercentile) for 3 months despite adequate calorie intake and continuous abnormal eye movements for 1 month. This infant was a full term born by vaginal delivery with birth weight of 2.5 kg. On examination vitals were stable. Infant looked emaciated and hyperactive (Fig.1 A). The nervous system examination revealed profound muscle wasting in all 4 limbs, generalised hypertonia with brisk deep tendon reflexes. Eyes showed continuous horizontal nystagmus in every gaze. Other systems were normal. MRI brain with contrast showed well defined lobulated mass measuring 3×2.6×4.4 cms in size in suprasellar region arising from hypothalamus (Fig.1 B,C,D) with possibility of glioma. Patient is planned for surgical intervention with the final diagnosis of Diencephalic syndrome (DES).

Figure 1. Diencephalic Syndrome A: Infant with faltering of growth B: MRI of Brain-T1 Axial section showing lobulated mass which is homogenously hypointense in suprasellar region arising from hypothalamus with intrasellar extension. C: MRI of Brain- Sagittal section showing lobulated mass hyperintense on T2 extending into 3rd ventricle and invading bilateral thalamus, with avid post contrast enhancement, no blooming on GRE and no restriction of diffusion. D: MRI of Brain-T1 Sagittal section showing lobulated mass in suprasellar region arising from hypothalamus with intrasellar extension.
<b>Figure 1.</b> Diencephalic Syndrome 
<b>A:</b> Infant with faltering of growth 
<b>B:</b> MRI of  Brain-T1 Axial section showing lobulated mass which is homogenously hypointense in suprasellar region arising from hypothalamus with intrasellar extension. 
<b>C:</b> MRI of  Brain- Sagittal section showing lobulated mass hyperintense on T2 extending into 3rd ventricle and invading bilateral thalamus, with avid post contrast enhancement, no blooming on GRE and no restriction of diffusion.
<b>D:</b> MRI of  Brain-T1 Sagittal section showing  lobulated mass in suprasellar region arising from hypothalamus with intrasellar extension.



Figure 1. Diencephalic Syndrome
  Diencephalic Cachexia - Rare Yet Crucial Entity
What is diencephalic cachexia?

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.
 
Compliance with ethical standards
Funding:  None  
Conflict of Interest:  None

  1. Russell A. A diencephalic syndrome of emaciation in infancy and childhood. Arch Dis Child 1951;26:274.
  2. 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.  [CrossRef]  [PubMed]  [PMC free article]
  3. 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.
  4. 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.  [CrossRef]  [PubMed]



DOI:  https://doi.org/10.7199/ped.oncall.2022.30
 
Cite this article as:
Sharma S, Kumar S, Sopori A, A I, Sharma K. Diencephalic Cachexia - Rare Yet Crucial Entity. Pediatr Oncall J. 2022;19: 101-102. doi: 10.7199/ped.oncall.2022.30
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