Sensory Ganglioneuropathy in Infantile Spinal Muscular Atrophy

Abstract

Light and electronmicroscopic findings in two cases. Neuropediatrics 12: 215-31 (1981). Two cases of infantile spinal muscular atrophy (Werdnig-Hoffmann disease) are described in unrelated children deceased at 11 months (acute clinical onset at 6 months) and 2 years (onset at birth). Severe respiratory difficulties, hypotonia, muscular weakness and depressed tendon reflexes were the main clinical features. Bulbar palsy, bilateral ptosis, pale optic discs and atactic movements of the hands were observed in the child deceased at 11 months. Besides severe loss of anterior horn cells and neurogenic muscle atrophy there was evidence of an extensive sensory involvement in both cases. Shrinkage, vacuolation as well as chromatolytic changes of dorsal root ganglion cells, together with the evidence of a primary axonal damage in sural nerve biopsies were interpreted in terms of ganglioneuropathy of the primary sensory neurons. An invasion of fibrous astrocytes into dorsal roots constituted another striking anomaly in one case as well as a pronounced degeneration of cranial nerves V and VIII in the other case, a finding not hitherto reported in Werdnig-Hoffmann disease.

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

“…Their involvement in SMA is reported in the older literature (18, 32, 37), and is present in 3 of our cases in which DRG were sampled. There is some clinical evidence for sensory involvement in SMA-I, including reduced sensory nerve conduction velocity (38), inexcitability of motor and sensory nerves (39), and evidence for axonal degeneration in sural nerves (40).…”

Congenital Cervical Spinal Cord Lesions: Pathogenesis, Management, and Outcome

“…Table 2 summarizes patients in the literature with spinal cord insults occurring in the prenatal, perinatal, and postnatal periods. [2][3][4][9][10][11][12][13][14] Patient 1 had the most severe phenotype. His segmental thinning of the cervical spine region was reported in other studies.…”

“…Absent sensory responses in a preganglionic cord lesion can be explained by the severity of the disorder and has been described previously in patients with severe spinal muscular atrophy (SMA1). 12,13 Chien and Nonaka 12 describe pathologically proven sensory and motor axonal degeneration in SMA1 disease, suggesting that the early damage to the peripheral nerve was secondary to degeneration of the anterior horn cell. Probst et al 13 also described 2 patients with infantile spinal muscular atrophy and neurogenic muscular atrophy with evidence of extensive sensory involvement.…”

“…12,13 Chien and Nonaka 12 describe pathologically proven sensory and motor axonal degeneration in SMA1 disease, suggesting that the early damage to the peripheral nerve was secondary to degeneration of the anterior horn cell. Probst et al 13 also described 2 patients with infantile spinal muscular atrophy and neurogenic muscular atrophy with evidence of extensive sensory involvement. It is not possible without postmortem analysis to define the primary site of the insult in our patients.…”