Vanishing White Matter (VWM) Disease Presenting As Neuro-Ovarian Failure

A 19-year girl was admitted with a one-month history of worsening spastic paraparesis, cerbellar ataxia, visual decline and worsening headaches on a background of walking difficulty, progressive quadriparesis and migraine since the age of 10 years. She had no sensory loss, and cranial nerves examination was notable for optic atrophy with crescent formation only. She had primary amenorrhea and underdeveloped secondary sexual characteristics. Ultrasonograhic studies of the pelvis confirmed small ovaries, and uterus. The magnetic resonance imaging (MRI) of the brain showed diffuse leukodystrophy. A diagnosis of leuko-ovarian syndrome or vanishing white matter (VWM) disease was made on the basis of Van der Knaap criteria. To the best of their knowledge, the authors are most probably reporting the first ever case of this rare clinical entity from Pakistan with special focus on its diagnostic and management challenges in the light of limited retrospective case reviews.