Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of congenital varicella syndrome after maternal infection during the 10th week of pregnancy. None of the typical abnormalities were manifested at birth; however, the child experienced neonatal tonic convulsions that evolved to refractory focal epilepsy with adversive, complex partial, and secondarily generalized seizures. At the age of 5 years, after a prolonged generalized seizure following cranial trauma, cranial computed tomography (CT) was performed. It led to the misdiagnosis of post-traumatic intracerebral hemorrhage. Afterwards, because of persistent seizures and developmental delay with mild or slight intellectual deficit, the next CT and magnetic resonance imaging (MRI) investigation at 8 years of age disclosed massive malformation of the left cerebral hemisphere. The serologic evidence of varicella-zoster virus-specific IgG antibodies without a history of varicella disease after birth and maternal infection during early pregnancy were crucial to diagnosing the rare syndrome of congenital varicella consisting of isolated brain damage.
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PMID:Congenital varicella syndrome: case with isolated brain damage. 1151 Sep 32