Neonatal epileptic seizures and neonatal epileptic syndromes

Panayiotopoulos, C. P.

doi:10.1007/978-1-84628-644-5_8

Cited by 24 publications

(34 citation statements)

References 58 publications

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“…DISCUSSION The differential diagnosis in a child presenting with neonatal seizures are listed in table e-1 on the Neurology ® Web site at Neurology.org. 3 An important diagnostic clue on general physical examination was the presence of dislocated ocular lenses. Lens dislocation characterizes sulfite oxidase deficiency, MoCD, Marfan syndrome, and homocystinuria.…”

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confidence: 99%

Child Neurology: Molybdenum cofactor deficiency

et al. 2015

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Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by neonatal onset intractable seizures, severe psychomotor retardation, dysmorphic facies, and dislocated ocular lenses.1 A characteristic biochemical profile permits early diagnosis. Although more than 100 genetically characterized patients have been reported, this number is discrepant with the actual prevalence as MoCD is often mistaken for hypoxic-ischemic encephalopathy (HIE) secondary to perinatal asphyxia. It is important to recognize MoCD to provide appropriate genetic counseling and prenatal diagnosis.2 Effective pharmacotherapies that overcome the primary biochemical defect are also in the pipeline. We present a child with biochemically and genetically confirmed MoCD and discuss the clinical, imaging, biochemical, and genetic profile of this disorder.CASE REPORT A 4-year-old boy from the south Indian state of Kerala presented with developmental delay and seizures. He was the only child of consanguineous parents (first cousins). He was born at term following an uneventful antenatal period with a birthweight of 3.25 kg, cried immediately at birth, and did not have features of birth asphyxia. He developed generalized seizures on the fifth day of life. The seizures remained refractory to multiple anticonvulsants at optimal dosages. He also developed episodes of intermittent sudden flexion of trunk and limbs once in 1-2 minutes. The frequency of these episodes was reduced with time and occurred in response to sound only. Since 6 months of age, he developed progressive stiffness with intermittent posturing of neck and trunk. There was no history of neurologic illness in the family.On examination, he was irritable and poorly nourished with intermittent stridor. He had microcephaly with head circumference of 46 cm, bilaterally dislocated lenses, and could not fix or track light. He had exaggerated startle to sound. There was severe spasticity, cervical dystonia, and opisthotonus. Investigations showed normal hemogram, renal and hepatic function tests, serum vitamin B 12 , folic acid, and biotidinase levels. Cytogenetic study showed normal male karyotype. Screening for amino-acidemias, organic acidemias, and disorders of fatty acid oxidation by tandem mass spectrometry drew negative results. Urine analysis for abnormal metabolites, glycosaminoglycans, total mucopolysaccharides, and organic acids was normal. Lactate (32.9 mg/dL; ref 4.5-20 mg/dL) and ammonia (67.7 mg/dL; ref 11-35 mg/dL) were mildly elevated. Mild laryngomalacia was detected on bronchoscopic examination. Brain MRI done at fourth month of life showed severe diffuse cerebral atrophy, areas of T2 shortening in bilateral basal ganglia suggestive of intracranial haemorrhage, and pontine hypoplasia with enlargement of the prepontine cistern ( figure, A-D). EEG showed recurrent multifocal epileptiform discharges.Serum homocysteine was markedly reduced (0.9 mmol/L; ref 4-12 mmol/L), and uric acid was undetectable. Examination of purine metabolites in urine showed the

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confidence: 99%

Child Neurology: Molybdenum cofactor deficiency

et al. 2015

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“…The behavioral findings of the current study also coincide with the results of our IPA analysis which identified 3 human genes of interest: SOCS3, TSPO, and UBE3A related to seizures. In humans, the neonatal phase is the most vulnerable period of life for developing seizures [106] and could easily be provoked by pesticide exposure. Similar to fetal alcohol spectrum disorder (FASD), which produces a variety of neurological disorders (i.e., epilepsy in prenatally exposed children [107]), insecticides like propoxur could also contribute to formation of neurological disorders and behavioral alterations.…”

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confidence: 99%

Exposure of Larval Zebrafish to the Insecticide Propoxur Induced Developmental Delays that Correlate with Behavioral Abnormalities and Altered Expression of hspb9 and hspb11

Shields

Hales

Ranspach

et al. 2019

Toxics

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Recent studies suggest that organophosphates and carbamates affect human fetal development, resulting in neurological and growth impairment. However, these studies are conflicting and the extent of adverse effects due to pesticide exposure warrants further investigation. In the present study, we examined the impact of the carbamate insecticide propoxur on zebrafish development. We found that propoxur exposure delays embryonic development, resulting in three distinct developmental stages: no delay, mild delay, or severe delay. Interestingly, the delayed embryos all physically recovered 5 days after exposure, but behavioral analysis revealed persistent cognitive deficits at later stages. Microarray analysis identified 59 genes significantly changed by propoxur treatment, and Ingenuity Pathway Analysis revealed that these genes are involved in cancer, organismal abnormalities, neurological disease, and hematological system development. We further examined hspb9 and hspb11 due to their potential roles in zebrafish development and found that propoxur increases expression of these small heat shock proteins in all of the exposed animals. However, we discovered that less significant increases were associated with the more severely delayed phenotype. This raises the possibility that a decreased ability to upregulate these small heat shock proteins in response to propoxur exposure may cause embryos to be more severely delayed.

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“…[1] The psychomotor development, predictably, is normal among all the members of this family. However, 5 out of 10 members crossed the upper age limit of normal age for remission, i.e., 6 months.…”

Section: Discussionmentioning

confidence: 99%

“…[1] Seizures are clonic, brief, and recur frequently for up to 7 days. Although other seizure types may develop later in infancy or childhood, various aspects of development are unaffected.…”

Section: Introductionmentioning

confidence: 99%

Benign familial neonatal convulsions: A family with a rare disorder

Singh

Raj

2008

Ann Indian Acad Neurol

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The authors report a family from Punjab (India) with 10 members having benign familial neonatal convulsions (also known as benign familial neonatal seizures) in two generations. This disorder is quite rare. The clinical presentation of index case along with the findings of computed tomography of the brain and electroencephalograph is described. Important features of all the family members along with a brief review of the literature are also given.

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Neonatal epileptic seizures and neonatal epileptic syndromes

Cited by 24 publications

References 58 publications

Child Neurology: Molybdenum cofactor deficiency

Child Neurology: Molybdenum cofactor deficiency

Exposure of Larval Zebrafish to the Insecticide Propoxur Induced Developmental Delays that Correlate with Behavioral Abnormalities and Altered Expression of hspb9 and hspb11

Benign familial neonatal convulsions: A family with a rare disorder

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