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Early Infantile Epileptic Encephalopathy Type 2

Infantile Spasms


Presentation

  • No single cause has been identified, although in many cases structural brain damage is present.[en.wikipedia.org]
  • We present a case of EIEE associated with a de novo missense variant in ZEB2.[ncbi.nlm.nih.gov]
  • This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion.[ncbi.nlm.nih.gov]
  • Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types from 3 months of age.[ncbi.nlm.nih.gov]
  • We present two patients with EIEE whose mothers experienced electric injury during pregnancy. After the accident one mother noticed decreased fetal movements.[ncbi.nlm.nih.gov]
Hypoventilation
  • […] between the length of the repeat and the severity of the clinical phenotype and penetrance in HOXD13 for synpolydactyly (SPD1 [MIM 186000 ]), 18 PABPN1 for oculopharyngeal muscular dystrophy (OPMD [MIM 164300 ]), 19 and PHOX2B for congenital central hypoventilation[ncbi.nlm.nih.gov]
Abnormal Eye Movement
  • Neither abnormal eye movements nor nephroureteral malformations has been previously described. This patient adds unique clinical presentations of neurological and nephroureteral abnormalities to the features of 9q33q34 microdeletion.[ncbi.nlm.nih.gov]
Blonde Hair
  • Another member of the group, Jesse*, a slim 17-year-old with dyed blond hair, tells me that he and his mum also had to leave their home. “I was getting sick every winter and summer when the temperature dropped,” he says.[newjerusalemtalmud.com]
Small Hand
  • This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.[mendelian.co]
  • At 19 years of age, she had severe mental retardation and a mixed seizure disorder, small hands and feet, and was wheelchair-dependent. The proband's identical twin sister had mild mental retardation and autistic features, but no seizures.[genome.jp]
Infantile-Onset Seizures
  • Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family[dx.doi.org]
Infantile-Onset Seizures
  • Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family[dx.doi.org]

Workup

  • The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies.[dnatesting.uchicago.edu]
  • Additional workup of exome sequencing analysis revealed a hemizygous nonsense mutation in PIGA (c.1234C T, p.Arg412 * ). The patient is currently undergoing hospitalization for treatment of respiratory failure and recurrent seizures.[synapse.koreamed.org]
  • Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence.[intechopen.com]
Focal Epileptiform Discharges
  • By increasing recording sensitivity, we detected focal epileptiform discharges of slow rhythmic sharp and slow waves building to 30 microV during suppression periods. Status epilepticus occurred at 16 months.[ncbi.nlm.nih.gov]

Treatment

  • In cases of EIEE with focal cortical dysplasia, surgical treatment may have beneficial effects on both psychomotor development and seizure control.[ncbi.nlm.nih.gov]
  • , SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment[genedx.com]
  • In severe cases with compatible electro-clinical features we propose a treatment algorithm based on a test trial with high dose intravenous phenytoin followed in case of a positive response by carbamazepine, more suitable for long-term maintenance treatment[ncbi.nlm.nih.gov]
  • His research is on the cellular mechanisms of action of antiepileptic drugs and new epilepsy treatment approaches. Richard W. Olsen, PhD Dr.[books.google.es]

Prognosis

  • Its manifestations include tonic spasms, focal motor seizures, suppression burst pattern, pharmaco-resistance, and dismal prognosis. The purpose of this study was to evaluate the effectiveness of epilepsy surgery in selected infants.[ncbi.nlm.nih.gov]
  • The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.[ncbi.nlm.nih.gov]
  • The author here reports on this patient focusing on the diagnosis and dismal prognosis.[ncbi.nlm.nih.gov]
  • The authors discuss the main problems related to the suppression-burst pattern and the long-term prognosis of this abnormality.[ncbi.nlm.nih.gov]
  • Changing pattern of EEG were classifiable into two types which strongly related to the prognosis. These findings indicated EIEE to be an independent epileptic syndrome as the earliest form of the age-dependent epileptic encephalopathy.[ncbi.nlm.nih.gov]

Etiology

  • With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology.[ncbi.nlm.nih.gov]
  • This case should be classified as Ohtahara syndrome accompanied by myoclonus, because of the spasms in series interrupting the suppression-burst pattern, and the etiological factor of brain malformation.[ncbi.nlm.nih.gov]
  • The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic cases of EIEE would be due to such disorders.[ncbi.nlm.nih.gov]
  • In this updated article, the authors review the clinical and neurophysiological data, management, and etiologic factors.[medlink.com]
  • Etiology No clear etiology is found in approximately 40% of cases ( Hrachovy, 2008 & Vigevano, 1992).[intechopen.com]

Epidemiology

  • Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children.[invitae.com]
  • Relevant External Links for PCDH19 Genetic Association Database (GAD) PCDH19 Human Genome Epidemiology (HuGE) Navigator PCDH19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH19 No data available for Genatlas for PCDH19 Gene Epilepsy[genecards.org]
  • Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments.[books.google.com]
  • Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • These characteristic changes may lead to the pathophysiology of EIEE.[ncbi.nlm.nih.gov]
  • Mutual transition suggests the same pathophysiology among three syndromes and the age factor should be considered as the common denominator responsible for the manifestation of each of their own specific clinico-electrical features.[ncbi.nlm.nih.gov]
  • Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy[oadoi.org]
  • Pathophysiology The underlying mechanisms of these disorders are still poorly understood.[intechopen.com]

Prevention

  • Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A G]p.[ncbi.nlm.nih.gov]
  • Much of this research is aimed at increasing scientific understanding of these disorders and finding ways to prevent, treat, and potentially cure them.[web.archive.org]
  • When EIEE is suspected, rapid and comprehensive genetic testing is critical to starting the child on a therapy that can prevent intractable seizures and severe cognitive dysfunction caused by the disease.[chop.edu]
  • Prevention No information is available. Genetic counseling might be helpful. 6.6.[intechopen.com]

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