RT Journal Article
SR Electronic
T1 Diagnosis of infantile neuroaxonal dystrophy by conjunctival biopsy.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 511
OP 515
DO 10.1136/jnnp.41.6.511
VO 41
IS 6
A1 Arsénio-Nunes, M L
A1 Goutières, F
YR 1978
UL http://jnnp.bmj.com/content/41/6/511.abstract
AB Conjunctival biopsy and ultrastructural examination of conjunctival nerves, showing the presence of spheroids within axons, led to the confirmation of the diagnosis of infantile neuroaxonal dystrophy in two children with progressive mental deterioration. Conjunctival biopsy, which is simple to perform, even in young children, and does not require general anaesthesia or admission to hospital, is presented as a reliable and very convenient technique for the diagnosis of infantile neuroaxonal dystrophy.