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1.
J Pediatr Ophthalmol Strabismus ; 45(4): 245-6, 2008.
Article in English | MEDLINE | ID: mdl-18705624

ABSTRACT

The authors describe a case of Miller-Fisher syndrome in a child who presented to the ophthalmology department with bilateral abducens nerve palsies. Miller-Fisher syndrome is an important differential diagnosis in any case of bilateral sixth nerve palsies but should only be definitively diagnosed once tumors, infections, and other neurological diseases have been conclusively ruled out.


Subject(s)
Abducens Nerve Diseases/diagnosis , Diplopia/diagnosis , Miller Fisher Syndrome/diagnosis , Autoantibodies/blood , Child, Preschool , Gangliosides/immunology , Humans , Male
2.
Acta Paediatr ; 97(3): 379-81, 2008 Mar.
Article in English | MEDLINE | ID: mdl-18241293

ABSTRACT

UNLABELLED: Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy. A full-term infant developed a rash and encephalopathy with lesions in the basal ganglia and periventricular white matter 3 days after a normal delivery. Typical skin changes of IP were confirmed by histology and mutation analysis of the NFkappaB essential modulator (NEMO) gene. CONCLUSION: The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.


Subject(s)
Brain Diseases/etiology , I-kappa B Kinase/genetics , Incontinentia Pigmenti/genetics , Mutation , Apoptosis , Female , Humans , Infant, Newborn
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