Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood

Adult-Onset Genetic Central Nervous System Disorders Masquerading as Acquired Neuroinflammatory Disorders

“…Disease onset is usually before the age of 5 years, but adolescent or adult disease onset also has been reported. 21,[66][67][68] In these patients who were asymptomatic before the late disease onset, the association of acute visual loss with optic atrophy and extensive myelopathy (with possible contrast enhancement) may suggest the diagnosis of NMOSD. Brain MRI may be normal, but the involvement of several structures, including mammillary bodies, hippocampal and parahippocampal regions, cerebellum, and medulla oblongata, also has been reported.…”

“…67,69 Spinal cord MRI can disclose transverse inflammatory-like T2 hyperintensities; however, gadolinium enhancement is rare in adolescent and adult patients (Figure 2D and E). 21,[66][67][68]70 In the presence of suggestive features, the diagnosis can be suspected on the basis of elevated CSF lactic acid and decreased plasma enzymatic biotinidase activity. Early diagnosis is very important because biotin supplementation can prevent symptom appearance and reverse most of the clinical and neuroradiological manifestations.…”

“…Biotinidase deficiency, a rare autosomal recessive biotin-responsive disease due to secondary biotin deficiency, can present with severe episodes of acute optic neuropathy and/or myelopathy, potentially mimicking NMOSD. Disease onset is usually before the age of 5 years, but adolescent or adult disease onset also has been reported . In these patients who were asymptomatic before the late disease onset, the association of acute visual loss with optic atrophy and extensive myelopathy (with possible contrast enhancement) may suggest the diagnosis of NMOSD.…”

Lyme neuroborreliosis causing unilateral cerebellitis presenting as horizontal nystagmus in a 7-year-old: an unusual presentation to an ophthalmology service

“…A literature search did not reveal a presentation of progressive juvenile optic atrophy initially diagnosed as functional visual loss as in the current case. However, there are in the literature several reports of late-onset biotinidase deficiency presenting in childhood with sudden visual loss, progressive optic atrophy, and accompanying myelitis, [5][6][7][8][9] a presentation that could be mistaken as neuromyelitis optica spectrum disorder (NMOSD). 10 Late-onset biotinidase deficiency should be considered in the differential diagnosis of juvenile progressive optic atrophy with or without hearing loss or myelitis.…”

“…This is particularly important as early diagnosis and biotin supplementation can prevent disease and deterioration. [1][2][3][4][5][6][7][8][9] Literature Search An unrestricted search of PubMed for biotinidase deficiency was conducted on February 28, 2021. Only English-language articles were reviewed.…”