ICNC Abstracts, ICNC 2018

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From cerebral palsy to hereditary spastic paraplegia: à propos of three patients
Dina Rose Amrom, Sara Seneca, Cedric Ballez, Monique Cordonnier, Peter De Jonghe, Jonathan Baets, Massimo Pandolfo, Julie Soblet, Guillaume Smits

Last modified: 2018-09-09


Introduction: Cerebral palsy (CP) is a clinically and etiologically heterogeneous condition. The observation of little change in CP prevalence despite progress of medical interventions suggests individual predisposing causes are playing a role. Among inherited factors, hereditary spastic paraplegia (HSP) can be difficult to distinguish from CP, especially if there is only one affected patient in the family and/or a suggestive pre/perinatal history.

Methods: Review of a 10-year follow-up of two boys and one girl with an initial diagnosis of CP, phenotyping their specific clinical and neuroimaging features, genotyping with Sanger sequencing in patient 1 and next generation sequencing in patients 2 and 3.

Results: Patient 1. A boy presented quadriparesia, intellectual deficiency, hydrocephalus and stenosis of the aqueduct of Sylvius/corpus callosum agenesis (HSAS/CCA). A pathogenic missense variant in L1CAM confirmed SPG1. Patient 2. A boy initially presented Little disease, later on recognized as Kjellin syndrome (hereditary spastic paraplegia, thin corpus callosum, central retinal degeneration), progressive cerebellar ataxia, high lactate at magnetic resonance spectroscopy. Compound heterozygous pathogenic variants in SPG11 were evidenced, and a heterozygous AFG3L2 variant of unclear significance.  Patient 3. A girl presented increased tone of lower limbs initially extrapyramidal, later on with pyramidal signs, no abnormalities on brain MRI/spectroscopy. A homozygous class IV variant in ERLIN1 indicated SPG62.

Conclusion: Cerebral palsy is a clinical description. We characterized three types of HSP as the final diagnosis of CP. An etiologic work-up of CP patients is always necessary and may be updated, to allow specific treatment and appropriate genetic counseling.



CP etiologic work-up; hereditary spastic paraplegia

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