A patient with optic pathway glioma, scoliosis, Chiari type I malformation and syringomyelia: is it Neurofibromatosis type 1?
A 22 years old girl had features of optic pathway glioma, scoliosis, Chiari type 1 malformation and cervical syringomyelia. She had no cutaneous lesions. We considered this combination to be more than coincidental and argue in favour of considering the case as a variant form of Neurofibromatosis type 1. The relevent literature in favour of our contention has been reviewed.
Chakravarty
A
A
Department of Neurology, Vivekananda Institute of Medical Sciences, Calcutta, India.
Bhargava
A
A
Nandy
S
S
D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D020339:Optic Nerve Glioma / Q000150:complications / Q000175:diagnosis*; D012600:Scoliosis / Q000150:complications / Q000175:diagnosis*; D013595:Syringomyelia / Q000150:complications / Q000175:diagnosis*