Infantile onset ascending hereditary spastic paralysis

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Infantile onset ascending hereditary spastic paraplegia is a rare, progressive neurological disorder.
• Early-onset spasticity in children presents diagnostic challenges.

Observation:

• A 3½-year-old girl exhibited delayed motor development, lower limb spasticity, toe walking, and clonus.
• Initial investigations including MRI and EEG were normal, but serum amino acids showed hyperprolinemia type 1.

Findings:

• Genetic analysis revealed a homozygous pathogenic variant in the ALS2 gene.
• This confirmed the diagnosis of infantile onset ascending hereditary spastic paraplegia.

Implications:

• This case highlights the importance of genetic testing in diagnosing rare pediatric neurological disorders.
• Multidisciplinary management is crucial for addressing the complex needs of affected children.