A case of paroxysmal sympathetic hyperactivity in lissencephaly caused by <i>TUBA1A</i> variant

Kobayashi Emiko, Akaza Kanami, Ozaki Masato, Kato Mitsuhiro, Saitsu Hirotomo, Nakajima Mitsuko, Watanabe Kazuki, Imamura Atsushi

doi:10.11251/ojjscn.56.130

<p> We report a case of lissencephaly with a new variant in TUBA1A (p.(Ala281Val)) complicated with paroxysmal sympathetic hyperactivity (PSH) characterized by recurrent paroxysmal hypertonia, tachycardia, and elevated body temperature. Using Baguley’s excitatory : inhibitory ratio model, we considered the PSH had occurred due to impairment of the central autonomic network, as the cerebral cortex was thin and the deep white matter was almost absent. PSH is associated with extensive brain damage such as head trauma and hypoxic encephalopathy ; however, the present case expands causal variability to brain malformations. Administration of gabapentin (GBP), a GABA agonist, was effective to control PSH. We considered the PSH was suppressed by GBP which reduced non-nociceptive influx stimuli in spinal cord, affected as a GABA agonist to enhance inhibitory input in brain and spinal cord, and eventually weakened efferent input to sympathetic and motor nerves. In order to elucidate the pathogenesis of PSH associated with cerebral dysplasia and to establish therapeutic strategies, it is necessary to accumulate the same cases.</p>

A case of paroxysmal sympathetic hyperactivity in lissencephaly caused by <i>TUBA1A</i> variant

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