A Case of Agyria-Pachygyria Presenting as Seizure Disorder in a Young Girl

Case Report

Austin J Clin Case Rep. 2020; 7(4): 1178.

A Case of Agyria-Pachygyria Presenting as Seizure Disorder in a Young Girl

Shikha Pandey1, Nitesh Raj Dulal1, Mohan Bhusal1 and PVS Rana2*

1Internal Medicine, College of Medical Sciences, Nepal

2Neurophysician, College of Medical Sciences, Nepal

*Corresponding author: P.V.S. Rana, Department of Neurology, College of Medical Sciences, Nepal

Received: October 19, 2020; Accepted: November 10, 2020; Published: November 17, 2020


“Lissencephaly”, a rare gene linked defective neuroblast migration disorder resulting in defective cortical lamination, abnormal gyral development and subcortical heterotropia. Advances in molecular genetics have led to the identification of lissencephaly gene on chromosome 17p 13.3 and causing Type-1 Lissencephaly or miller Diecker syndrome where lissencephaly is severe in posterior brain region. Another X-linked gene Double Cortin (DCX) gene where the lissencephaly is more severe in anterior region of the brain. Usually this defect manifests in early infancy or childhood as seizure disorder. A case of lissencephaly with features of Miller Dieker syndrome in a young girl is reported and literature is reviewed. The important feature of the case was its late presentation in a 17 years old girl.

Keywords: Agyria; Cortical Dysplasia; Seizure; Lissencephaly (LIS); Miller-Dieker Syndrome (MDS); Pachygyria; Polygyria


Lissencephaly (LIS), a combination of two Greek words (Lissos = smooth: Encephalin = brain), is a developmental anomaly of brain resulting from abnormalities of neuronal migration [1] and is characterized by absent (agyria) or broad, flat and thick gyri (pachygyria). It is a rare disease with a prevalence rate of 12 per million births [2]. The affected children have varied neurological manifestations depending upon the severity of conditions and associated abnormalities. Rarity of condition led to this case report.

Case Summary

Ms. SC, a 17 years old girl was admitted in Neurology centre of Collage of Medical Sciences (COMS), Bharatpur, (Chitwan-District), Nepal on 16 January 2016 following a seizure episode. As per informant (i.e. her father) her illness started 03 years back when she started having recurrent seizures with a frequency of 3-4 seizures per month. Her old documents were not available but according to history after initial episode she was put on carbamazepine 200 mg twice a day. As her seizures were uncontrolled the dose of carbamazepine was increased in a stepwise manner to 400 mg twice a day. Inspite of increasing dose of carbamazepine her seizures were uncontrolled and were occurring at irregular intervals. When reported she was not taking carbamazepine for the last 3-4 weeks. The seizure semiology suggested complex partial seizure with loss of consciousness. Her seizure started with staring look followed by turning of face to left side, stiffening of the left half of the body and loss of consciousness. She denied history of inter-ictal tongue bite, sphincteric incontinence, post-ictal paralysis or automatism. There was no history of birth trauma or major systemic illness in the past. Family history for similar illness was negative. Her milestones were normal but her scholastic performance was poor and she dropped out after 7th class. Neurological examination revealed facial paresis of upper motor neuron type and hemiparesis (power grade 4/5) on right side. Deep tendon reflexes were brisk on right side with plantar response mute on both sides. Fundus examination was normal. No phakoma detected. Other systems were normal. Investigations done i.e. complete haemogram, urinalysis, metabolic parameters and X-ray chest were normal. EEG (Figure 1) showed dysrhythmia with frequent seizure discharges arising from both sides. No phenomenon of phase reversal, periodic discharges or suppression burst noted. MRI (Figure 2) revealed abnormally thickened gyrus (Pachygyria) involving insular, temporal and parietal region. She was put on sodium valproate (a drug of choice for her seizure type as carbamazepine was ineffective). Her seizures were satisfactorily controlled by sodium valproate 400 mg/twice daily.


Lissencephaly is a cortical dysplasia resulting from defective migration of neuronal precursor (neuroblast) from germinal matrix (lining the lateral and 3rd ventricles) along radial glial fibers (extending from ventricles to brain surface) to form cortex between 12 th & 24th week of gestation [1,2]. A completely smooth brain, devoid of sulci and gyri (complete lissencephaly) is rarely seen. Most of the patients have incomplete lissencephaly with agyria and pachygyria in varied combination. Present classification of lissencephaly is based on MRI findings and on associated developmental anomalies [3,4].

Citation: Pandey S, Dulal NR, Bhusal M and PVS Rana. A Case of Agyria-Pachygyria Presenting as Seizure Disorder in a Young Girl. Austin J Clin Case Rep. 2020; 7(4): 1178.