P2.260: Out of Diet, Out of Sight: Pediatric Neuro-Ophthalmologic Decline Unmasking Severe Vitamin A Deficiency in a Selective Eater

Introduction: Vitamin A deficiency (VAD), though rare in high-resource settings, is increasingly recognized in at-risk pediatric populations, particularly those with selective eating behaviors or malabsorptive disorders. VAD is the leading cause of preventable childhood blindness worldwide and can present with a spectrum of ocular symptoms including xerophthalmia, keratomalacia and optic neuropathy. In severe cases, it may cause cranial neuropathies, sensorineural hearing loss, and ataxia, reflecting its broader neurologic impact. These manifestations can mimic neurodegenerative or inflammatory conditions, often delaying diagnosis. This case underscores the importance of considering VAD in children with neuro-ophthalmologic symptoms and dietary risk factors.

Case Description: A 12-year-old male with Tourette’s syndrome and a long-standing diet limited to potato-based foods presented with progressive bilateral sensorineural hearing loss over three months, followed by night blindness, complete vision loss in the left eye and right eye visual field deficits over one month. He was admitted for investigation of progressive vision loss. MRI performed three months prior showed bilateral enhancement of cranial nerves VII and VIII, concerning for neuritis. Ophthalmologic evaluation revealed bilateral optic neuropathy, left relative afferent pupillary defect and optic disc pallor.
Repeat MRI brain, orbits and cervical spine during admission was unremarkable. The patient was initially treated with IV methylprednisolone, followed by an oral prednisone taper and two doses of IVIG for presumed chronic inflammatory demyelinating polyneuropathy. CSF analysis was normal. Further laboratory testing revealed multiple nutritional deficiencies including severely low vitamin A (4.0 mcg/dL), vitamin D, copper and ceruloplasmin, as well as elevated homocysteine. EMG demonstrated subtle lower extremity abnormalities without definitive peripheral neuropathy.
He was treated with high-dose intramuscular vitamin A for three days followed by daily IM dosing for 14 days. He also received three doses of IV copper and was started on oral supplementation with vitamin D, B12 and thiamine. Genetic and metabolic workups were initiated. Patient was discharged on continued IM vitamin A with outpatient follow-up arranged with neurology, ophthalmology and vision rehabilitation. Repeat ophthalmologic evaluation after vitamin A therapy showed no progression of vision loss. However, visual prognosis remains guarded due to the chronicity and extent of optic nerve damage at presentation.

Discussion: This case highlights the severe multisystemic impact of vitamin A deficiency, presenting with night blindness, xerophthalmia and optic neuropathy, potentially progressing to irreversible blindness. Neurologic findings as cranial neuropathies and sensorineural hearing loss reflect the systemic impact of prolonged deficiency. Delayed diagnosis may cause irreversible visual and neurologic damage, emphasizing early recognition in at risk pediatric populations for better outcomes.

Conclusion: Children with selective diets are at increased risk for multiple micronutrient deficiencies, including vitamins A, D, and C. Clinicians should maintain a high index of suspicion, as early recognition and treatment are essential to prevent irreversible vision loss and neurologic complications.