An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic resonance imaging, an abnormally thin corpus callosum was observed. Involvement of the fasciculus gracilis was suggested by somatosensory evoked potentials. To our knowledge, there has been no reported case of complicated HSP with peripheral neuropathy, optic atrophy and mental retardation so far. We postulate that our patient is a sporadic case of not previously described complicated HSP.
Key words
Spastic paraplegia - Peripheral neuropathy - Optic atrophy - Mental retardation - Epilepsy
References
-
1 Bruyn R PM, Scheltens P. Hereditary spastic paraparesis (Strümpell-Lorrain). Vinken PJ, Bruyn GW, Klawans HL Handbook of Clinical Neurology. Vol. 59. Amsterdam; Elsevier Science Publishers 1991: 301-318
-
2
Bruyn R PM, Dijk van J G, Scheltens P, Boezeman E HJF, Visser de B WO.
Clinically silent dysfunction of dorsal columns and dorsal spinocerebellar tracts in hereditary spastic paraparesis.
J Neurol Sci.
1994;
125
206-211
-
3
Ferrer I, Olive M, Rivera R, Pou A, Narberhaus B, Ugarte A.
Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy. A neuropathological study.
Neuropathol Appl Neurobiol.
1995;
21
255-261
-
4
Fink J K, Wu C T, Jones S M, Sharp G B, Lange B M, Lesicki A. et al .
Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15 q.
Am J Hum Genet.
1995;
56
188-192
-
5
Greenberg J A, Kaplan P W, Erwin C W.
Somatosensory evoked potentials and the dorsal column myth.
J Clin Neurophysiol.
1987;
4
189-196
-
6
Hazan J, Lamy C, Melki J, Munnich A, Recondo de J, Weissenbach J.
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14 q.
Nat Genet.
1993;
5
163-167
-
7
Hentati A, Pericak-Vance M A, Hung W Y, Belal S, Laing N, Boustany R M. et al .
Linkage of “pure” autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
Hum Mol Genet.
1994;
3
1263-1267
-
8
Iwabuchi K, Kubota Y, Hanihara T, Nagatomo H.
Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum.
No to Shinkei.
1994;
46
941-947
-
9
Martin J J, Dessel van G, Lagrou A, Barsy de A M, Dierick W.
Multiple system atrophies: a neuropathological and neurochemical study.
J Neurol Sci.
1974;
21
251-272
-
10
Nakamura A, Izumi K, Umehara F, Kuriyama M, Hokezu Y, Nakagawa M. et al .
Familial spastic paraplegia with mental impairment and thin corpus callosum.
J Neurol Sci.
1995;
131
35-42
-
11
Pelosi L, Lanzillo B, Perretti A, Santoro L, Blumhardt L, Caruso G.
Motor and somatosensory evoked potentials in hereditary spastic paraplegia.
J Neurol Neurosurg Psychiatry.
1991;
54
1099-1102
-
12
Ueda M, Katayama Y, Kamiya T, Mishina M, Igarashi H, Okubo S. et al .
Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan.
Neurology.
1998;
51
1751-1754
-
13
Uncini A, Treviso M, Basciani M, Gambi D.
Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy.
Electroencephalogr Clin Neurophysiol.
1987;
66
132-136
M. D. Sahoko Miyama
Department of Pediatric Neurology Shimada Center for Rehabilitation and Neurodevelopmental Intervention
1-31-1 Nakazawa
Tama-shi
Tokyo 206-0036
Japan
