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A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation
E Guillén-Navarro1, R Wallerstein, E Moran
1Human Genetics Program, New York University Medical Center, NY 10016, USA.
Insights
This study describes a novel form of hereditary spastic paraplegia (HSP) in a young Hispanic male. The condition presents with cataracts, spasticity, hearing loss, and skin abnormalities, suggesting a new autosomal recessive disorder.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Hereditary spastic paraplegia (HSP) encompasses a group of inherited neurological disorders.
- These disorders are characterized by progressive lower-limb spasticity and weakness.
- Genetic heterogeneity and varied inheritance patterns complicate HSP diagnosis.
Observation:
- A 16-year-old Hispanic male with consanguineous parents presented with early-onset cataracts.
- He exhibited progressive lower-extremity spasticity and atrophy from age 4.
- Additional features included atretic ear canals with hearing loss and hypopigmented skin patches.
Findings:
- Clinical examination confirmed spastic paraplegia signs: increased tone, hyperreflexia, muscle atrophy, and contractures.
- Sensory, autonomic, and cerebellar functions remained unaffected.
- Neuroimaging and laboratory tests ruled out metabolic or infectious causes, supporting a new complicated HSP form.
Implications:
- This case suggests a novel autosomal recessive hereditary spastic paraplegia.
- Understanding this new HSP variant can aid in genetic counseling and diagnosis for similar presentations.
- Further research is needed to identify the specific genetic mutation responsible for this condition.
Abstract:
A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. Sensation, autonomic and cerebellar functions were not disturbed. Neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.