Research ArticleOriginal Article
Open Access

Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center

Amal Y. Kentab, Shumukh Al Bulayhi, Muddathir H. Hamad, Ali Al Wadei and Fahad A. Bashiri
Neurosciences Journal October 2022, 27 (4) 244-250; DOI: https://doi.org/10.17712/nsj.2022.4.20220001

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Tables

  • Table 1

    - Demographic parameters and clinical characteristics of the patients (n=150).

    CharacteristicsStructuralGeneticInfectiousMetabolicImmuneUnknownTotal number
    Total number41 (27.3)43 (28.7)8 (5.3)10 (6.7)1 (0.7)47 (31.3)150
    Gender distribution       
    Male23 (56.1)17 (39.5)4 (50.0)6 (60.0)018 (38.3)68 (45.3)
    Female18 (43.9)26 (60.5)4 (50.0)4 (40.0)1 (100.0)29 (61.7)82 (54.7)
    Age at onset (first seizure)       
    0-7 days4 (9.8)8 (18.6)01 (10.0)04 (8.5)17 (11.3)
    8-30 days14 (34.1)6 (14.0)2 (25.0)004 (8.5)26 (17.3)
    1-24 months23 (56.1)29 (67.4)6 (75.0)9 (90.0)1 (100.0)39 (83.0)107 (71.3)
    Seizure type       
    Focal13 (31.7)7 (16.3)3 (37.5)2 (20.0)1 (100.0)7 (14.9)33 (22.0)
    Generalized28 (68.3)36 (83.7)5 (62.5)8 (80.0)040 (85.1)117 (78.0)
    Generalized type       
    Atonic01 (2.3)01 (10.0)04 (8.5)6 (4)
    Clonic1 (2.4)000001 (0.67)
    Infantile spasm3 (7.3)9 (20.9)01 (10.0)06 (12.8)19 (13)
    Myoclonic1 (2.4)1 (2.3)0002 (4.3)4 (2.7)
    Tonic11 (26.8)8 (18.6)1 (12.5)2 (20.0)09 (19.1)31(21)
    Tonic clonic12 (29.3)17 (39.5)4 (50.0)4 (40.0)019 (40.4)56 (37)
    History of febrile convulsion2 (4.9)00004 (8.5)6 (4.0)
    Family history       
    Epilepsy6 (14.6)15 (34.9)04 (40.0)013 (27.7)38 (25.3)
    Global developmental delay31 (75.6)33 (76.7)5 (62.5)8 (80.0)018 (38.3)95 (63.3)
    Pyramidal signs19 (46.3)8 (18.6)2 (25.0)3 (30.0)03 (6.3)35 (23.3)
    Hypotonia13 (31.7)22 (51.2)1 (14.3)4 (40.0)011 (23.4)51(34.0)
    Dysmorphic features4 (9.8)10 (23.3)01 (10.0)04 (8.5)19 (12.6)
    abnormal head circumference10 (24.3)5 (11.6)02 (20.0)01 (2.1)18 (12)
    Abnormal Neuroimaging       
    CT scan4 (9.8)1 (2.3)2 (25.0)1 (10.0)01 (2.1)96 (64)
    MRI scan36 (87.8)23 (53.5)6 (75.0)7 (70.0)1 (100.0)14 (29.8) 
    Abnormal EEG finding26 (63.4)21(49)6 (75)6 (60)1 (100.0)22 (47)82 (54.7)

    EEG -Electroencephalography, CT - computed tomography, MRI - Magnetic resonance imaging

    • Table 2

      - Metabolic and genetic causes among 150 children with epilepsy below 2 years of age.

      Metabolic causes (total No. 10 (6.7%))

      • Aminoacylase deficiency (ACY1)

      • Congenital Methemoglobinemia (CYB5R3), G6PD Deficiency

      • Malonic acidemia (MAL)

      • Hemizygous pathogenic variant in G6PD gene

      • Succinic semialdehyde dehydrogenase (SSADH) deficiency (ALDH5A1)

      • Pyridoxal 5 phosphate dependent epilepsy (PNPO)

      • Biotinidase deficiency

      • Rhizomelic chondrodysplasia punctate type 2 (GNPAT)

      • Sanfilippo A (MPS3A)

      • Sulfite Oxidase deficiency (SUOX)

      Genetic causes (total No. 43 (28.7%))

      • SCN1A-related seizure disorder

      • Dravet syndrome (SCN1A)

      • Benign familial Neonatal convulsion (KCNQ2)

      • Early Infantile Epileptic Encephalopathy (SCN2A)

      • Early Infantile Epileptic Encephalopathy type 7 (KCNQ2)

      • Early Infantile Epileptic Encephalopathy type 9 (PCDH19)

      • Early Infantile Epileptic Encephalopathy type 11 (SCN2A)

      • Early infantile Epileptic Encephalopathy Type 14 (KCNT1)

      • Early Infantile Epileptic Encephalopathy type 18 (SZT2)

      • Early infantile Epileptic Encephalopathy type 25 (SLC13A5)

      • Early Infantile Epileptic Encephalopathy type 35 (ITPA)

      • Earli Infantile Epileptic Encephalopathy type 49 (DENND5A)

      • Early Infantile Epileptic Encephalopathy type 66 (PACS2)

      • GLUT1 deficiency (SLC2A1)

      • Infantile spasm (CACNB4)

      • Epileptic encephalopathy, brain malformation (EML1)

      • Autosomal Recessive Neurodevelopmental disorder with microcephaly, cataract and renal abnormalities (GEMIN4)

      • GEMIN4- related phenotype with global developmental delay and congenital cataract

      • Pseudo-TORCH syndrome (USP18)

      • Epilepsy, progressive myoclonic (NHLRC1)

      • Autosomal dominant Wiedemann-Steiner syndrome (KMT2A)

      • X-linked epilepsy with variable learning disabilities and behavior disorders (SYN1)

      • Autosomal recessive microcephaly, seizers, and developmental delay (MCSZ) (PNKP)

      • Autosomal recessive spinocerebellar ataxia type 20 (SNX14)

      • Ischemic stroke secondary to heterozygous G20210A factor II prothrombin mutation in F2 gene

      • Tuberous Sclerosis Complex (TSC2)

      • Sturge-Weber syndrome.

      • Rett syndrome (FOXG1)

      • Down Syndrome and Epileptic Encephalopathy (Infantile spasm)

      • Galloway-Mowat syndrome (WDR73)

      • Joubert syndrome (CC2D2A)

      • Aicardi Goutieres syndrome (type AGS- 3

    • Table 3

      - Etiology of structural seizures in 41 patients.

      Causen (%)
      Perinatal insult25 /41 (60.9%)
      Congenital11/41 (26.8%)

      • Chiari malformation II (2 patients)

      • Chiari II malformation with bilateral subependymal gray matter heterotopia.

      • Dandy walker variants.

      • Arteriovenous malformation (AVM) (2 patients)

      • Large cisterna magna communicating with the 4th ventricle.

      • Left frontal insular cortical dysplasia

      • Extensive cerebral white matter cystic changes.

      • Severe cerebral malformation with pachygyria.

      • Extensive polymicrogyria.

      		 
      Traumatic

      • Massive parenchymal, subarachnoid, and intraventricular hemorrhage with small subdural hematoma.

      • Bilateral subdural hematoma.

      • Concussion / fracture (2 patients)

      		4/41 (9.8%)
      Brain tumor

      • Pilocytic astrocytoma

      		1 /41 (2.4%)
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