January 2026

CASE HISTORY

• 35 yr old male c/o headache, quadriparesis and blurring of vision.
• H/o GTCS 7 months ago and difficulty in gripping the objects.
• No history of fever or weight loss.
• Was diagnosed as CNS TB on imaging and treated with ATT and VP shunt for hydrocephalus at other hospital.

CASE CONTRIBUTED BY

Dr. Mohd Asif, Consultant Neuroradiologist, Department of Radiology, Glenfield Mallareddy Hospital, Nampally, Hyderabad.

Dr. Syed Abdul Jaleel Kirmani, Consultant Neurosurgeon, Department of Neurosurgery, Glenfield Mallareddy Hospital, Nampally, Hyderabad.

Diagnosis: Synchronous Pineal and Sellar-suprasellar Diffuse Midline Glioma, H3 K27 M Mutant CNS WHO Grade 4 with leptomeningeal and drop metastases.

MRI:

• Heterogeneous, multiloculated solid-cystic lesion with calcifications and haemorrhage in pineal region causing mass effect of brainstem, the solid component shows intense enhancement and the cystic areas show peripheral enhancement.
• Similar solid lesion seen in sellar-suprasellar region, shows intense contrast enhancement.
• Multifocal areas of nodular and smooth leptomeningeal enhancement predominantly along the cerebral hemispheres (L>R).
• There is leptomeningeal enhancement along the visualised cervical cord – leptomeningeal drop metastasis.

Incidental finding: multiple flow voids seen along the cervical and thoracic cord, no nidus and oedematous cord signal changes secondary to venous congestion – dural AV fistula.

Differential diagnoses:

• Germ cell tumor
• Intracranial metastasis
• AT/RT and ETMR in pediatric age group

Microscopic Description:

Sections studied show a hypercellular lesion in a fibrillary background. The lesional cells are
polygonal to spindle shaped with marked pleomorphism. They have vesicular nuclei, prominent
nucleoli and moderate eosinophilic cytoplasm. Frequent mitosis is seen, including atypical mitosis.

There is no necrosis / microvascular proliferation in the sections studied.

Report on IHC:
H3 K27 Me3 – Loss of expression
H3 K27 M – Positive
ATRX – Retained
P53 – Diffuse strong positive
SALL4 – Negative
Ki67 – 36%

Diagnosis: Diffuse Midline Glioma, H3 K27M Altered, H3 K27 M Mutant, CNS WHO Grade 4.