Retrospective Study of the Investigations of Children Presenting with Lower Limbs Spasticity in a Single Institution

Abstract

Objectives This retrospective study was undertaken to identify how children with spasticity entirely or mainly affecting lower limbs are investigated in a single institution, to address the diagnostic yield of these investigations, and to establish an improved diagnostic algorithm.

Methods Clinical documents regarding children referred to our institution for the diagnostic investigation of spastic diplegia and receiving their first clinical appointment between the July 1, 2010, and the December 31, 2010, were identified in our electronic database. Clinical correspondence, case-notes, magnetic resonance imaging reports, and other investigation results were reviewed.

Results For the 26 patients (16 males) identified, there was much variability in the investigations offered. In the 53.84% of them, a specific diagnosis was found, including one case of hereditary spastic paraplegia 3A and one of neuroblastoma.

Conclusions Diagnostic rate could be optimized by a more standardized approach to investigations and by rational genetic testing. A comprehensive diagnostic algorithm is proposed for implementation of etiological diagnosis.

Keywords

spastic diplegia - hereditary spastic paraplegias - cerebral palsy - diagnostic algorithm - genetic testing

• References

• 1 Gupta R, Appleton RE. Cerebral palsy: not always what it seems. Arch Dis Child 2001; 85 (5) 356-360
• 2 García-Cazorla A, Wolf NI, Serrano M , et al. Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 2009; 32 (5) 618-629
• 3 de Bot ST, van de Warrenburg BPC, Kremer HPH, Willemsen MAAP. Child neurology: hereditary spastic paraplegia in children. Neurology 2010; 75 (19) e75-e79
• 4 Ashwal S, Russman BS, Blasco PA , et al. Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2004; 62 (6) 851-863
• 5 Tang-Wai R, Webster RI, Shevell MI. A clinical and etiologic profile of spastic diplegia. Pediatr Neurol 2006; 34 (3) 212-218
• 6 Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7 (12) 1127-1138
• 7 Leonard JM, Cozens AL, Reid SM, Fahey MC, Ditchfield MR, Reddihough DS. Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?. Dev Med Child Neurol 2011; 53 (3) 226-232
• 8 Rosenbaum P, Paneth N, Leviton A , et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007; 109: 8-14
• 9 Krägeloh-Mann I, Horber V. The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: a systematic review. Dev Med Child Neurol 2007; 49 (2) 144-151
• 10 Jutras-Aswad D, DiNieri JA, Harkany T, Hurd YL. Neurobiological consequences of maternal cannabis on human fetal development and its neuropsychiatric outcome. Eur Arch Psychiatry Clin Neurosci 2009; 259 (7) 395-412
• 11 Fong CY, Mumford AD, Likeman MJ, Jardine PE. Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. Dev Med Child Neurol 2010; 52 (5) 489-493
• 12 Harteman JC, Groenendaal F, van Haastert IC , et al. Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia. Dev Med Child Neurol 2012; 54 (2) 140-147
• 13 de Vries LS, Koopman C, Groenendaal F , et al. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. Ann Neurol 2009; 65 (1) 12-18
• 14 Vahedi K, Alamowitch S. Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 2011; 24 (1) 63-68
• 15 Schüle R, Schöls L. Genetics of hereditary spastic paraplegias. Semin Neurol 2011; 31 (5) 484-493
• 16 Schrander-Stumpel C, Höweler C, Jones M , et al. Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. Am J Med Genet 1995; 57 (1) 107-116
• 17 Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005; 6 (1) 1-16
• 18 Casari G, Marconi R. Spastic Paraplegia 7. In: Pagon RA, Bird TD, Dolan CR, Stephens K, , eds. GeneReviews. Seattle, WA: University of Washington; 1993–2006 Aug 24 [updated December 2010 23]
• 19 Schüle R, Schlipf N, Synofzik M , et al. Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 2009; 80 (12) 1402-1404
• 20 Goizet C, Boukhris A, Maltete D , et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology 2009; 73 (14) 1111-1119
• 21 Warner TT, Patel H, Proukakis C , et al. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 2004; 251 (9) 1068-1074
• 22 Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007; 20 (6) 674-680
• 23 McDermott CJ, Burness CE, Kirby J , et al; UK and Irish HSP Consortium. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 2006; 67 (1) 45-51
• 24 Goizet C, Boukhris A, Mundwiller E , et al. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009; 30 (2) E376-E385
• 25 Gasser T, Finsterer J, Baets J , et al; EFNS. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol 2010; 17 (2) 179-188
• 26 Hyland K, Gibson KM, Sharma R, Van Hove JLK, Hoffmann GF. Neurotransmitters disorders. In: Sarafoglu K, Hoffmann GF, Roth K, , eds. Pediatric Endocrinology and Inborn Errors of Metabolism. New York, NY: McGraw-Hill; 2009: 789-820