A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS

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

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Presentation transcript:

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

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

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

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

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: 674-682. Mastrangelo et al © 2013 American Academy of Neurology