1. A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS
Teaching Video NeuroImages
Neurology
Resident and Fellow Section
© 2013 American Academy of Neurology
Mastrangelo et al

2. VIGNETTE Male, 15 years; Clinical presentation:
Early onset spastic paraparesis -> spastic quadriparesis ;
Hypo- and bradykinesia;
Dysphagia, dysarthria, and hypomimia;
Preserved cognitive functioning (Leiter-R IQ 86);
Delayed motor evoked potentials;
MRI: Cortico-bulbar tract signal abnormality ;
Mastrangelo et al
© 2013 American Academy of Neurology

3. LEGEND TO VIDEO: Clinical course of IAHSP in our patient
LEGEND TO VIDEO: Clinical course of IAHSP in our patient. A) 2 years: spastic diplegia as presenting symptom; B-C) 5-6 years: ascending progression of spasticity with involvement of upper limbs; D) 12 years: worsening of weakness (after muscle lengthening and dorsal rhizotomy) as well as hypo- and bradykinesia; E) 15 years: wheelchaired bound, severe hypomimia.
Mastrangelo et al
© 2013 American Academy of Neurology

4. LEGEND TO FIGURE: T1-weighted hyperintensity at the level of the cortico-bulbar pyramidal decussation (arrow) in a brain MRI at the age of 15.
© 2013 American Academy of Neurology
Mastrangelo et al

5. Clinical course of infantile ascending hereditary spastic paralysis
- Diagnosis: Infantile ascending hereditary spastic paralysis (IAHSP).
- ALS2 gene sequencing: homozygous c.2992C>T (p.R998X) substitution in exon 18;
- IAHSP may be misdiagnosed as a static encephalopathy because of its slow progression;
- Children with slowly progressive quadriparesis should be tested for ALS2 gene mutations .
References:
1 - Devon RS, Helm JR, Rouleau GA, et al et al. The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet. 2003; 64:210-5.
2 - Lesca G, Eymard–Pierre E., Santorelli F.M. et al. Infantile ascending hereditary spastic paralysis (IAHSP) Clinical features in 11 families Neurology 2003; 60:
Mastrangelo et al
© 2013 American Academy of Neurology