[Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)].
Authors summarized the etiology of convulsions in neonatal period and infancy (hypoxia, intracranial hemorrhage, infections of central nervous system, metabolic background, chromosomal abnormalities, brain developmental abnormalities, benign neonatal convulsions, benign neonatal familial convulsions, drug withdrawal, inborn error of metabolism). They suggest screening examinations after convulsion, summarized the basic principle of tandem examination and review a proposal at suspicion of inborn error of enzyme defects (aminoacidemias, defects of fatty acid oxidation, organic acidemias). They present case history of two patients suffered in extraordinary inborn error of enzyme defect (SCO2 gene mutation, propionic acidemia). Diagnosis originated in Helm P61 Hospital (settlement Madarász Hospital) with a Hungarian and international cooperation.
Nagy
Andrea
A
Heim Pál Kórház Madarász Utcai Kirendeltsége; 1131 Budapest, Madarász. nandr56@gmail.com
Szever
Zsuzsa
Z
Kormos
Zsuzsa
Z
Székely
Emoke
E
Tóth
Edit
E
Smidéliusz
Lajos
L
Horváth
Rita
R
Karcagi
Vera
V
Schuler
Agnes
A
Jávorszky
Eszter
E
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications; D002352:Carrier Proteins / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000150:complications; D002869:Chromosome Aberrations; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D000860:Hypoxia / Q000150:complications; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000150:complications; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics; D018832:Molecular Chaperones; D009154:Mutation; D018608:Ultrasonography, Doppler
D002352:Carrier Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C400285:SCO2 protein, human; C092928:Surf-1 protein