Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.
PMID 40171223 | PMCID PMC11961292 | DOI 10.1155/crnm/7003370 · Case reports in neurological medicine · 2025
Biotinidase deficiency is a rare treatable metabolic disorder caused by biallelic mutations in the BTD gene. In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations. Some patients may have atypical presentations mimicking a demyelinating disorder of the central nervous system. We report on the first genetically confirmed Tunisian patient with biotinidase deficiency who presented initially with cutaneous manifestations misdiagnosed as dermatophytosis and subsequently with an opticospinal syndrome leading to the diagnosis of seronegative neuromyelitis optica spectrum disorder that was dramatically improved under biotin. We carry on a review of the literature of the previously reported pediatric cases with an opticospinal syndrome revealing biotinidase deficiency.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BTD | “Biotinidase deficiency is a rare treatable metabolic disorder caused by biallelic mutations in the BTD gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations.” | 0.93 | phenotype_alias_lexicon_v2 |