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Reversal of brain atrophy with biotin treatment in biotinidase deficiency
D P Bousounis1, P R Camfield, B Wolf
1Department of Neurology, Children's Hospital of Wisconsin, Shorewood.
Insights
Biotinidase deficiency can cause severe neurologic issues in infants, including seizures and cerebral atrophy. Early diagnosis and biotin treatment are crucial for reversing these effects and ensuring developmental progress.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Biotinidase deficiency is an inherited metabolic disorder affecting biotin metabolism.
- Early diagnosis and treatment are critical for preventing severe neurological sequelae.
Observation:
- Two infants presented with seizures and neurological dysfunction attributed to biotinidase deficiency.
- Brain imaging revealed white matter changes and cerebral atrophy, which were reversible with treatment.
Findings:
- Children with biotinidase deficiency showed marked improvement in seizures and neurological status following biotin supplementation.
- Cerebral atrophy observed on CT and MRI scans was reversed after biotin treatment, indicating a reversible condition.
Implications:
- Clinicians should consider screening for biotinidase deficiency in infants with unexplained neurological symptoms and white matter abnormalities.
- Prompt diagnosis and biotin treatment can prevent irreversible brain damage and developmental delays in affected children.
Abstract:
Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course with uncontrolled seizures leading to an unresponsive state until she was diagnosed at 6 1/2 months. Neither child had dermatologic symptoms until shortly before the time of diagnosis. Both children improved markedly with biotin treatment. Serial CT-scan and MRI studies of the brain showed a distinct pattern of changes. Shortly after initial presentation, diffuse low attenuation of the white matter was seen followed by progressive marked cerebral atrophy, which was reversed following biotin treatment. Because this is a reversible condition, clinicians should screen for biotinidase deficiency in all children with symptoms of chronic neurologic dysfunction, especially when radiologic findings of low attenuation of the white matter are followed by cerebral atrophy.