hemimegalencephaly

1. A CASE OF TOTAL
HEMIMEGALENCEPHALY
E-POSTER FOR 38th M.P. STATE ANNUAL CONFERENCE IRIA 2023
Author- Dr. Kamlesh Kotwani ( Junior Resident)
Co-Author- Dr. Neeraj Sharma
R.D.Gardi Medical College, Ujjain

2. INTRODUCTION
• Hemimegalencephaly is an unusual congenital non-familial
malformation of the brain which is characterized by
enlargement of the whole or part of one hemisphere due to
neural proliferation and dysfunction in the cell migration (1)

3. Case history
 A 25 year old male presented with chief complaints of :
• Recurrent episodes of refractory seizures x childhood
• Weakness in left upper and lower limb with abnormal movements x
childhood
• Right CSOM x 1 month
INFORMED CONSENT WAS TAKEN FROM THE PATIENT

4. Enlarged right cerebral hemisphere
Increased white matter bulk
Grey matter heterotropia
Abnormal dysplastic cortex

5. Enlarged right midbrain
(cerebral peduncle)

6. Enlarged right cerebellar
peduncle
Enlarged and dysplastic right
cerebellar hemisphere

7. RADIOLOGICAL FINDINGS
• Enlarged right cerebral hemisphere with increased white matter bulk.
• Abnormal dysplastic cortex
• Multiple foci of grey matter heterotropia
• Enlarged right half of midbrain (cerebral peduncle)
• Enlarged right cerebellar peduncle
• Enlarged and dysplastic right cerebellar hemisphere with abnormal orientation of
folia and cerebellar fissure.

8. Discussion
• Rare congenital disorder
• Defective cellular organization and neuronal migration hamartomatous overgrowth
of unilateral/ a part of unilateral cerebral hemisphere .
• Increased proliferation/decreased apoptosis (or both) of developing neurons
abnormal activation of the mTOR signaling pathway
• Can be Isolated/ Total, can be associated with multiple syndromes-
(Epidermal Nevus Syndrome, Mccune-Albright Syndrome, Cloves Syndrome,
Klippel-Trenaunay Syndrome) (2)

9. Symptoms- intractable epilepsy, developmental/psychomotor retardation,
C/L hemiparesis (4)
Differential Diagnosis-
• Tubulinopathy- mutation of TUBB2B gene
• Can be confused with hemilateral atrophy
TREATMENT-
• Control of epilepsy by modified AED regimen
• If AEDs are unsuccessful hemispherectomy done (3)

10. References
1. Jaiswal V, Hanif M, Sarfraz Z, et al. Hemimegalencephaly: A rare
congenital malformation of cortical development. Clin Case Rep.
2021;9:e05238. doi:10.1002/ccr3.5238
2. Sims J (1835) On hypertrophy and atrophy of the brain. Medico Chir Trans
19:315
3. Chand P, Manglani P, Abbas Q. Hemimegalencephaly: seizure outcome in
an infant after hemispherectomy. J Pediatr Neurosci. 2018;13(1):106-108.
doi:10.4103/JPN.JPN_56_17
4. https://radiopaedia.org/articles/hemimegalencephaly