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Early Infantile Epileptic Encephalopathy Type 28

EIEE28


Presentation

  • Optic atrophy may be present and the ERG is abnormal in some individuals.[disorders.eyes.arizona.edu]
  • The classification of patients under various epileptic syndromes is presented in Tables II and III. Eight patients in group A could not be classified under any defined epileptic syndrome presenting during this age.[indianpediatrics.net]
  • 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]
  • Individuals with epileptic encephalopathy caused by mutations in DENND5A present with serious anomalies in brain structure along with calcifications in the brain and altered facial features.[medicalxpress.com]
Lymphadenopathy
  • Uncommon - Between 30% and 50% cases Cough Uncommon - Between 30% and 50% cases Other less frequent symptoms Patients with WWOX gene alterations may also develop some of the following symptoms and phenotypes: Not very common - Between 30% and 50% cases Lymphadenopathy[mendelian.co]
Chest Pain
  • Most common symptoms of SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS Feeding difficulties in infancy Lymphadenopathy Nausea and vomiting Cough Chest pain More info about SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS SOURCES: UMLS ORPHANET ESOPHAGEAL CANCER Description[mendelian.co]
Long Arm
  • The long arm of chromosome 16 was identified as being frequently associated with structural abnormalities in multiple neoplasias, that led us to focus attention on the detailed genetic dissection of this region resulting in the cloning of the putative[wikigenes.org]
Cryptorchidism
  • Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS Cryptorchidism Abnormality of cardiovascular system morphology Hypospadias Delayed skeletal maturation Osteoporosis More info about 46,XY PARTIAL GONADAL DYSGENESIS SOURCES: ORPHANET SPINOCEREBELLAR[mendelian.co]
Poor Coordination
  • Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.[selfdecode.com]
Nystagmus
  • The same gene is mutated in autosomal recessive spinocerebellar ataxia 12 ( 614322 ), a less severe condition in which gaze-evoked nystagmus occurs.[disorders.eyes.arizona.edu]
  • Congenital nystagmus Sensory axonal neuropathy Decreased motor nerve conduction velocity CNS hypomyelination Leukodystrophy Peripheral demyelination Poor speech Sensory neuropathy Facial palsy Intellectual disability, profound Myopia Peripheral neuropathy[mendelian.co]
  • Tonic seizure started clinically with a scream (vertical arrow) and episodic nystagmus (oblique arrows shows EM artefacts).[slideshare.net]
Hyperreflexia
  • Spasticity and hyperreflexia are often present but some newborn infants are hypotonic. MRI imaging reveals cortical atrophy with hippocampal hypoplasia and a hypoplastic corpus callosum. Progressive microcephaly has been described.[disorders.eyes.arizona.edu]
  • Neuronal loss in central nervous system Gliosis Abnormality of the eye Vomiting Milia Failure to thrive Flexion contracture Cerebral hypomyelination Excessive salivation Hemiparesis Paroxysmal involuntary eye movements Hypoglycorrhachia Generalized hyperreflexia[mendelian.co]
Hyperreflexia
  • Spasticity and hyperreflexia are often present but some newborn infants are hypotonic. MRI imaging reveals cortical atrophy with hippocampal hypoplasia and a hypoplastic corpus callosum. Progressive microcephaly has been described.[disorders.eyes.arizona.edu]
  • Neuronal loss in central nervous system Gliosis Abnormality of the eye Vomiting Milia Failure to thrive Flexion contracture Cerebral hypomyelination Excessive salivation Hemiparesis Paroxysmal involuntary eye movements Hypoglycorrhachia Generalized hyperreflexia[mendelian.co]

Workup

  • No definite etiology could be established for either case despite an extensive metabolic workup. CT performed within three months of age in both cases was normal. Other workers have also often been unable to find the etiology for EME.[indianpediatrics.net]
  • 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]

Treatment

  • Treatment Treatment Options: No treatment is known for this condition.[disorders.eyes.arizona.edu]
  • Lachhwani Lippincott Williams & Wilkins, 2006 - 1247 من الصفحات Thoroughly updated, the Fourth Edition of The Treatment of Epilepsy: Principles and Practice remains the most comprehensive single-volume clinical reference on the epilepsies.[books.google.com]
  • […] with treatment and outcome;4.[grantome.com]

Prognosis

  • Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation.[intechopen.com]
  • Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology().[jped.com.br]
  • Prognosis Prognosis is poor with death usually occurring in infancy (50% before age of 2). Survivors have severe psychomotor impairments with continuing seizures. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • The patients who carried the AA AG genotype had poorer prognosis than those with GG genotype.[jcancer.org]
  • Format Definition A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis.[uniprot.org]

Etiology

  • The etiology or associated disorders involve a wide series of neonatal diseases and metabolic disorders. Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology().[jped.com.br]
  • Etiology No clear etiology is found in approximately 40% of cases ( Hrachovy, 2008 & Vigevano, 1992).[intechopen.com]
  • In thirteeen (35.1%) cases no definite underlying etiology could be established. Birth asphyxia and central nervous system infections accounted for a majority of cases with known etiology.[indianpediatrics.net]
  • Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities.[orpha.net]
  • The developmental prognosis partially depends on the etiology. When classified by etiology, normal development was described in 51% of cryptogenic cases versus only 6% of symptomatic cases.[emedicine.medscape.com]

Epidemiology

  • Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments.[books.google.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]
  • 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]
  • [Epidemiological and clinical study of West syndrome in Nagasaki Prefecture, Japan]. No To Hattatsu. 2001;33(1):15-20.Ormrod D, McClellan K. Topiramate: a review of its use in childhood epilepsy.[malattierare.regione.veneto.it]
  • Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients. Pediatr Neurol. 1998 Jan. 18(1):46-50. [Medline]. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • "Our study demonstrates the importance of membrane trafficking in neuronal development and it provides a new pathophysiological mechanism for this disease type.[medicalxpress.com]
  • Pathophysiology The underlying mechanisms of these disorders are still poorly understood.[intechopen.com]
  • Pathophysiology The epileptic encephalopathies are a group of age-specific epilepsy syndromes of diverse etiologies that share the potential for causing significant cognitive impairment.[emedicine.medscape.com]
  • Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome.[malattierare.regione.veneto.it]
  • Moreover, emphasis on pathophysiology reflects the increasing importance of personalized therapy in patients with epileptic encephalopathy.[thieme-connect.com]

Prevention

  • This study confirms that WWOX is a tumor suppressor gene and is highly effective in preventing growth of lung cancer xenografts , whether introduced through viral infection or by induction of a silent WWOX transgene [7] .[wikigenes.org]
  • For long term storage store at -20C in small aliquots to prevent freeze-thaw cycles. Preservative: 0.02% Sodium Azide and 50% glycerol Target Post-Translational Modification: Phospho-Tyr33[avivasysbio.com]
  • PMID 11719429 WWOX gene restoration prevents lung cancer growth in vitro and in vivo.[atlasgeneticsoncology.org]
  • WWOX gene restoration prevents lung cancer growth in vitro and in vivo. Proc Natl Acad Sci U S A . 2005;102:15611–15616. 8. Gourley C, Paige AJ, Taylor KJ, et al.[dovepress.com]
  • Prevention No information is available. Genetic counseling might be helpful. 6.6.[intechopen.com]

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