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Epilepsy and Sleep Disorders
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
In addition to these inherited conditions, which have seizures as their main clinical expression, there are a large number of inherited disorders, most of them rare, which present as neurological or systemic illness of which epileptic seizures form a part, such as tuberous sclerosis and neurofibromatosis. Other rare, inherited, degenerative brain disorders and inborn errors of metabolism such as adrenoleukodystrophy, Alpers’ disease and Tay–Sachs disease, phenylketonuria, porphyria and neuronal ceroid-lipofuscinosis can also cause seizures.
An update on Alpers-Huttenlocher syndrome: pathophysiology of disease and rational treatment designs
Published in Expert Opinion on Orphan Drugs, 2018
Blackwood et al. described five patients, two of which had liver portal proliferation and fibrosis with episodes of EPC [13]. All five patients had normal early development. Neuropathological findings were similar to those previously described by Alpers, Morse, and Ford et al. [14–16]. Blackwood labeled the collection of findings as Alpers’ Disease. Subsequently, Harding tied together the disease neuropathology and clinical presentation with an added 32 patients [1]. Neuropathological findings of these patients demonstrated spongiform changes with neuronal loss and astrocytosis, which progresses through all cortical layers with striking predilection for the striate cortex. Typically early development was normal until seizures began, which began the regression of development. But in some patients the presentation was early insidious cognitive and motor delays, failure to gain weight, emesis, and hypotonia. However, all patients eventually developed seizures and as seizures become medically intractable, the rapidly progressive part of the disease usually begins. Most patients developed liver abnormalities consisting of fatty changes, hepatocyte loss, bile duct proliferation, fibrosis, and often cirrhosis. Huttenlocher et al. were the first to propose that the progressive degeneration of the cerebral cortex with distinct hepatic findings represented a specific heptocerebral degeneration syndrome [17]. The neuropathological findings described by Harding were correlated with liver cirrhosis or subacute hepatitis, with superimposed fatty infiltration of hepatocytes.