Wells-Jankovic syndrome
Definition[edit | edit source]
It is a rare neurologic disease characterized by spastic paraparesis presenting in late childhood with hearing loss.
Prevalence[edit | edit source]
In the United States, the disease is estimated to affect about 1 in 300 people.
Clinical features[edit | edit source]
- Spastic paraparesis presenting in late childhood with hearing loss.
- Other features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor and dysdiochokinesia
Symptoms and signs[edit | edit source]
The patients affected with this syndrome may present with:
- Abnormality of movement
- Ataxia
- Cataract
- Gait disturbance
- Hemiplegia/hemiparesis
- Hyperreflexia
- Hypogonadism
- Impaired pain sensation
- Nystagmus
- Sensorineural hearing impairment
- Short stature
- Spastic paraparesis
- Visual impairment
Diagnosis[edit | edit source]
Diagnosis is through a series of tests including:
- Medical History and Physical Exam
- Clinical Procedures
- Laboratory Tests
- Imaging Studies
Laboratory findings[edit | edit source]
- Elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials.
- Plasma and fibroblast levels of saturated very long-chain fatty acids are normal.
Management[edit | edit source]
Management is supportive care and symptom management.
NIH genetic and rare disease info[edit source]
Wells-Jankovic syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD