Primary lateral sclerosis in a child

Abstract

Primary lateral sclerosis (PLS), previously undescribed in children, is characterized by a spastic motor deterioration and pathologic demonstration of corticospinal tract degeneration. We report an infant who, before 12 months of age, developed a progressive motor disease characterized by generalized spasticity. He died at 47 months, and neuropathologic examination revealed only corticospinal tract degeneration. We conclude that this child had typical clinical and pathologic findings for PLS.

Infantile ascending hereditary spastic paralysis (IAHSP)

“…This disorder occurs sporadically in adults, and pathologic findings showed the absence of Betz's cells from layer 5 and a decreased number of pyramidal tract neurons in layers 3 and 5 of the pericentral gyri, with preservation of the anterior horn cells. [36][37][38] The sporadic case, whose symptoms started at age 12 months, had a faster disease progression than our patients, with a 38-month course and death at 47 months. In a single patient, MRI showed an increased intensity signal at the site of the pyramidal tract on T2weighted images, extending from the corona radiata through the posterior arm of the internal capsule to the pons.…”

“…24,33 MRI displays signs of cortical atrophy, mostly pronounced within the region of the pericentral gyrus. 36 Neuropathologic examination showed loss of myelinated fibers from the anterior and lateral corticospinal tracts in the spinal cord, the pyramids, and descending corticospinal tracts in the basis pontis as well as a decreased number of Betz's cells. 34 Motor-evoked responses in PLS are absent or very delayed, and sensory-evoked potentials are normal or mildly delayed.…”

Primary lateral sclerosis: a case report with SPECT study

“…Rare forms may present bulbar involvement at the onset 3 . The average age at onset is 40 to 50 years, although children's cases have been reported 8,9 . Cognitive deficits are moderate 2 , and mild alterations may be detected by adequate neuropsychological testing.…”

TARDBP Mutation Presenting as Progressive Hemiplegia

“…It has been suggested that “Mills syndrome” in fact represents a unilateral variant of primary lateral sclerosis (PLS) . PLS occupies the UMN end of the spectrum of motor neuron disease, characterized by degeneration of the motor cortex and corticospinal tracts, and hemiplegic variants have been described . Tar DNA binding protein 43 (TDP‐43) inclusions in brainstem and motor cortex have been found in autopsy cases of PLS, with scant accumulation in LMNs, prompting the classification of PLS as a TDP‐43 proteinopathy of UMN‐predominant ALS with FTD .…”