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Neurophysiolgical implications in sialidosis type 1: a case report
The International Journal of Neuroscience
|September 29, 2020
Summary
Sialidosis type 1, a rare genetic disorder, can be identified early through specific neurophysiological findings. A distinctive EEG pattern, the spiky beta brush, aids in diagnosing this condition.
Area of Science:
- Genetics and Neurology
- Rare Hereditary Diseases
Background:
- Sialidosis is a rare autosomal recessive disorder stemming from mutations in the NEU1 gene.
- It manifests with progressive neurological symptoms, including seizures, visual decline, and myoclonus.
Observation:
- A 25-year-old woman presented with a history of generalized tonic-clonic seizures, progressive vision loss, and limb myoclonus.
- Her sister exhibited similar symptoms, and both were products of consanguineous marriages.
- Electroencephalography (EEG) revealed an extensive paroxysmal spiky beta brush, and somatosensory evoked potentials (SEP) indicated cortical myoclonus.
Findings:
- Genetic analysis confirmed a known pathogenic homozygous mutation (c.544A>G in exon 3 of the NEU1 gene) in both affected sisters.
- These findings led to the diagnosis of sialidosis type 1.
Implications:
- The presence of neurophysiological abnormalities, particularly the spiky beta brush on EEG, may serve as an early diagnostic marker for sialidosis type 1.
- This highlights the importance of neurophysiological assessments in the early detection of rare genetic neurological disorders.
