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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
Question:
A 5 months old female infant born of non-consanguineous marriage presented with complaints of not gaining weight (<3^rdpercentile) 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.