Infantile Onset of Hereditary Ascending Spastic Paralysis With Bulbar Involvement

Primary lateral sclerosis and hereditary spastic paraparesis are both rare neurodegenerative disorders characterized by progressive weakness and spasticity of the lower limbs, with involvement of the corticospinal tracts and sparing of anterior horn cells. We describe a consanguineous family in which three sons developed progressive paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles but cognitive sparing. This family presents the nosologic difficulty of distinguishing between hereditary spastic paraparesis and primary lateral sclerosis. We suggest that the diagnosis in this family is hereditary primary lateral sclerosis. This is the first instance of familial occurrence of primary lateral sclerosis . (J Child Neurol 1996;11:54-57).

Pringle CE , Hudson AJ , Munoz DG , et al: Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria. Brain 1992;115:495-520.

Fisher CM : Pure spastic paralysis of corticospinal origin. Can J Neurol Sci 1977;4:251-258.

Beal MF , Richardson EP : Primary lateral sclerosis. A case report. Arch Neurol 1981;38:630-633.

Gastaut JL , Michel B. , Figarella-Branger D. , Somma-Mauvais H. : Chronic progressive spinobulbar spasticity. A rare form of primary lateral sclerosis. Arch Neurol 1988;45:509-513.

Appelbaum JS , Roos RP , Salazar-Grueso EF , et al: Intrafamilial heterogeneity in hereditary motor neuron disease. Neurology 1992;42:1488-1492.

Grunnet ML , Leicher C. , Zimmerman A. , et al: Primary lateral sclerosis in a child. Neurology 1989;39:1530-1532.

Strumpell A. : Beitrage zur Pathologie des Ruckenmarks. Arch Psychiatr Nervenkr 1880;10:676-717.

Harding AE : Hereditary "pure" spastic paraplegia: A clinical and genetic study of 22 families . J Neurol Neurosurg Psychiatry 1981;44:871-883.

Appleton ER , Farrel K. , Dunn HG : "Pure" and "complicated" forms of hereditary spastic paraplegia presenting in childhood. Dev Med Child Neurol 1991 ;33:304~312.

Holmes GL , Shaywitz BA : Strumpell's pure familial spastic paraplegia: Case study and review of the literature. J Neurol Neurosurg Psychiatry 1977;40:1003-1008.

Erb WH : Über einen wenig bekannten spinalen symptomen Komplex. Klin Wochenschr 1875;12:357-359.

Younger DS , Chou S. , Hays AP , et al: Primary lateral sclerosis. A clinical diagnosis reemerges. Arch Neurol 1988;45:1304-1307.

Behan WMH , Maia M. : Strumpell's familial spastic paraplegia: Genetics and neuropathology. J Neurol Neurosurg Psychiatry 1974;37:8-20.

Schwartz GA , Lui CN : Hereditary (familial) spastic paraplegia . Arch Neurol Psychiatry 1956;75:144-162.

Moser HW , Bergin A. , Naidu S. : Spastic paraparesis due to metabolic disorders, in de Jong JMBV (ed): Diseases of the Motor System. Handbook of Clinical Neurology, vol 15(59). New York, Elsevier, 1991, pp 351-365.

Hazan J. , Lamy C. , Melky J. , et al: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet 1993;5:163-167.

van Deutekom JC , Bruyn RP , van den Boorn N. , et al: Pure hereditary spastic paraparesis: An exclusion map covering more than 40% of the autosomal genome. Hum Genet 1994;93: 408-414.

Bonneau D. , Roset JM , Bulteau C. , et al: X linked spastic paraplegia (SPG2): Clinical heterogeneity at a single gene locus. J Med Genet 1993;30:381-384.