Summary Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous group of severe epilepsies characterised by several seizure types, frequent epileptiform activity on EEG, ...and developmental slowing or regression. The encephalopathies include many age-related electroclinical syndromes with specific seizure types and EEG features. With the molecular revolution, the number of known monogenic determinants underlying the epileptic encephalopathies has grown rapidly. De-novo dominant mutations are frequently identified; somatic mosaicism and recessive disorders are also seen. Several genes can cause one electroclinical syndrome, and, conversely, one gene might be associated with phenotypic pleiotropy. Diverse genetic causes and molecular pathways have been implicated, involving ion channels, and proteins needed for synaptic, regulatory, and developmental functions. Gene discovery provides the basis for neurobiological insights, often showing convergence of mechanistic pathways. These findings underpin the development of targeted therapies, which are essential to improve the outcome of these devastating disorders.
A 14-year-old boy presented with acute paraparesis with sensory and sphincter disturbance. Imaging and neurophysiologic studies were diagnostic for transverse myelitis with acute motor axonal ...neuropathy. He was treated with both intravenous immunoglobulin and high-dose corticosteroids, and he made a slow and incomplete recovery. Acute motor axonal neuropathy is an unusual variant of Guillain-Barré syndrome. Concomitant transverse myelitis and acute motor axonal neuropathy were not previously reported in childhood, although there are reports of coexisting transverse myelitis and other variants of Guillain-Barré syndrome. Such dual lower motor neuron pathology may be associated with a poorer outcome, and indicates simultaneous central and peripheral immune-mediated injury. There may be a place for combined therapy with immunoglobulin and corticosteroids in patients with transverse myelitis and inflammatory neuropathy.
