Alexander's disease: reassessment of a neonatal form.
BACKGROUND
Alexander disease is a disorder caused by a mutation and accumulation of the glial fibrillary acidic protein. Currently, three subtypes are acknowledged: an infantile, a juvenile, and an adult form. However, onset early in infancy or in the prenatal period has been shown to present with a uniform pattern of symptoms-suggesting the presence of a distinct neonatal form of the disease.


CONCLUSIONS
Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentation of the neonatal form is distinguished by leukodystrophy and generalized, frequent, and intractable seizures. While the infantile form presents with ataxia, hyperreflexia, and other upper motor neuron symptoms, none of these has been observed in the neonatal form. In the diagnosis of neonatal Alexander disease, it is essential to rule out other causes of leukodystrophy and the presence of neoplasms.
Department of Anatomical Sciences, School of Medicine, St George's University, West Indies, Grenada.
Navneet
N
Singh
Catherine
C
Bixby
Denzil
D
Etienne
R Shane
RS
Tubbs
Marios
M
Loukas
D038261:Alexander Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D003937:Diagnosis, Differential; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009369:Neoplasms / Q000175:diagnosis; D059906:Neuroimaging
D005904:Glial Fibrillary Acidic Protein