AI Article Synopsis
- Biotinidase deficiency (BTD) is a genetic metabolic disorder that can cause symptoms like hair loss, skin problems, seizures, and developmental delays.
- Three patients with quadriplegia and vision loss were misdiagnosed with neuromyelitis optica spectrum disorder (NMOSD) due to similar neuroimaging findings.
- After testing revealed abnormalities linked to BTD, two patients improved significantly with biotin supplementation, while one did not respond to immune therapy.
Article Abstract
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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| http://dx.doi.org/10.1136/bcr-2023-258703 | DOI Listing |
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