European Journal of Radiology Extra 65 (2008) 37–41
Posterior column atrophy in autosomal recessive hereditary spastic
paraplegia: MRI findings
Roula Hourani
a
, Wissam Barada
b,*
, Taghrid El Hajj
b
,
Mukbil Hourani
a
, Bassem Yamout
b
a
Department of Radiology, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon
b
Department of Internal Medicine, Division of Neurology, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon
Received 7 June 2007; received in revised form 7 October 2007; accepted 29 November 2007
Abstract
Hereditary spastic paraplegia (HSP) is a heterogeneous group of hereditary disorders first described by Str¨ umpell in 1880 characterized by
degeneration of the corticospinal tracts and posterior columns of the spinal cord. In spite of the advances in our clinical and genetic understanding
of HSP’s, the radiological correlates of the disease were never defined. Most of the studies reporting MRI findings, describe non-specific brain
abnormalities and spinal cord atrophy. We report two identical twins sisters with the diagnosis of HSP in whom MRI of the spinal cord revealed
posterior displacement of the central ependymal canal suggestive of posterior column atrophy.
© 2007 Elsevier Ireland Ltd. All rights reserved.
Keywords: Hereditary spastic paraplegia; Posterior column degeneration; Magnetic resonance imaging
1. Introduction
Hereditary spastic paraplegia (HSP) is a heterogeneous group
of hereditary disorders first described by Str¨ umpell in 1880
characterized by degeneration of the corticospinal tracts and
posterior columns of the spinal cord.
They are usually divided into two groups: a “pure” form and
a “complicated” form, comprising in addition to spastic para-
plegia, cerebellar symptoms, amyotrophy of the upper limbs,
extrapyramidal signs, ophthalmoplegia, optic neuropathy, reti-
nal pigmentary changes, skin disorders, mental retardation and
peripheral neuropathy. Dominant, recessive and X-linked pat-
terns of inheritance have been described. Around 70% of cases
follow a dominant mode of inheritance, and 20% show recessive
pattern [1,2].
Most of the studies reporting MRI findings of HSP, describe
non-specific brain abnormalities such mild to moderate atro-
phy of intracranial structures, particularly the corpus callosum,
non-specific white matter lesions in the cerebral hemispheres,
*
Corresponding author at: Wissam Barada, American University of Beirut.
P.O. box: 113-6044. Beirut, Lebanon. Fax: +961 1 370802.
E-mail address: wb13@aub.edu.lb (W. Barada).
abnormal T2 high signal intensity in the posterior limb of the
internal capsules and atrophy of the spinal cord [3–10].
We report two identical twins sisters with the diagnosis of
HSP in whom MRI of the brain was normal, however, MRI of
the spinal cord revealed posterior displacement of the central
ependymal canal suggestive of posterior column atrophy.
2. Case report
Nineteen-year-old twins’ product of a consanguineous mar-
riage born via c-section without any perinatal complications.
Both were noticed to have weakness and spasticity in both lower
extremities at the age of 3 years.
Both had a normal cognitive function, normal speech, normal
vision and no difficulty at school. Their neurologic evalua-
tion revealed an upper motor neuron disease predominantly in
the lower extremities with weakness, spasticity, hyper-reflexia,
and an extensor plantar response. Their sensory exam revealed
absent vibratory sensation at toes, ankles, and knees; moderately
decreased vibratory sensation at hips, and a mildly decreased at
fingers. The pin prick and light touch sensation were conserved
as was the motor power of the distal upper extremities.
Neurography and electromyography revealed the presence
of an axonal motor neuropathy or neuronopathy. Their retinal
1571-4675/$ – see front matter © 2007 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.ejrex.2007.11.009