Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Abdi, Fatemeh; Parvin, Sadaf; Zare Hosseinabadi, Vahid; Kachuei, Maryam; Gordiz, Arzhang; Hemmati, Sara; Karimzadeh, Parvaneh

doi:10.1080/13816810.2023.2296921

Ophthalmic Genetics

2024

DOI: 10.1080/13816810.2023.2296921

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Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Fatemeh Abdi,

Sadaf Parvin,

Vahid Zare Hosseinabadi

et al.

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2024

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Cited by 1 publication

References 29 publications

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Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

Ali,

Mukhtiar,

Raza

et al. 2024

BMJ Case Rep

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Biotinidase deficiency (BTD) is a treatable, inherited metabolic disorder commonly characterised by alopecia, dermatitis, seizures and developmental delay. It can also manifest as optic neuritis and myelitis; however, these are infrequently described in the literature. We report three cases who presented with quadriplegia and vision loss, initially managed as neuromyelitis optica spectrum disorder (NMOSD), based on neuroimaging findings. Two of them initially responded to immune therapy but relapsed after a few months, while one case showed no clinical improvement with immune therapy. The clinical presentation and neuroimaging findings in all three cases were consistent with NMOSD, leading to a delayed diagnosis of BTD. Antiaquaporin4 and antimyelin oligodendrocyte glycoprotein antibodies were negative in all patients. Urine organic acids reported raised markers of biotinidase or holocarboxylase synthase deficiency. Two of them had a dramatic response to biotin supplementation, showing significant improvement in motor function and vision.

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Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

Ali,

Mukhtiar,

Raza

et al. 2024

BMJ Case Rep

View full text Add to dashboard Cite

show abstract

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Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature

Cited by 1 publication

References 29 publications

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder

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