Related Experiment Videos
Familial childhood primary lateral sclerosis with associated gaze paresis
G G Gascon1, P Chavis, A Yaghmour
1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.
Insights
This study describes a rare, inherited neurological disorder in children causing progressive motor neuron loss, leading to severe weakness and speech difficulties. Despite significant motor impairment, cognitive functions remain intact, suggesting a specific form of familial primary lateral sclerosis.
Area of Science:
- Neurology
- Genetics
- Neurophysiology
Background:
- Investigating rare inherited neurological disorders in children.
- Understanding the genetic basis of progressive motor neuron diseases.
- Characterizing the clinical and neurophysiological presentation of early-onset neurological conditions.
Observation:
- Three children from consanguineous families presented with progressive loss of ambulation in late infancy.
- Patients developed spastic quadriplegia, pseudobulbar palsy, and gaze paresis, with preserved intellect.
- Extensive diagnostic workup, including neuroimaging and biochemical tests, yielded normal results.
Findings:
- Neurophysiological studies revealed absent motor-evoked potentials via transcranial magnetic stimulation.
- Electromyography and nerve conduction studies excluded peripheral neuropathy.
- The clinical and neurophysiological profile strongly suggests an autosomal recessive form of primary lateral sclerosis (PLS).
Implications:
- Highlights the diagnostic challenges of rare inherited motor neuron diseases.
- Emphasizes the importance of neurophysiological testing in diagnosing conditions like familial PLS.
- Contributes to the understanding of the genetic and clinical spectrum of primary lateral sclerosis.
Abstract:
Three children from consanguineous parents began losing the ability to walk in late infancy. Despite chronically progressive weakness leading to wheelchair dependence by adolescence and later loss of motor speech production, intellect remained preserved. Examination revealed upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal or sensory signs. In addition they exhibited a diffuse conjugate saccadic gaze paresis, especially severe on down-gaze. CT and MRI scans of brain and spinal cord, EEGs, visual and brainstem auditory evoked potentials, CSF examinations, enzyme assays for lysosomal storage diseases, blood amino acids and urine organic acids were all normal. Cortical somatosensory evoked potentials were poorly configured in two of the patients, though they had normal central conduction. EMG showed no signs of denervation. Nerve conduction studies showed normal peripheral motor and sensory conduction velocities. Transcranial magnetic stimulation of the brain elicited no motor-evoked potentials. Despite the lack of neuropathological confirmation, the clinical course and neurophysiologic data strongly support the diagnosis of a familial (autosomal recessive) primary lateral sclerosis (PLS).