Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small gamma-aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.
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PMID:The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible encephalopathy. 1946 51

Hypothalamic hamartoma (HH) can be associated with a wide spectrum of epileptic conditions, ranging from a mild form with seizures characterized by urge to laugh and no cognitive involvement up to a catastrophic encephalopathy with early onset gelastic seizures (GS), precocious puberty, and mental retardation. Moreover, a refractory, either focal or generalized, epilepsy develops during the clinical course in nearly all the cases. Neurophysiologic and neuroimaging studies have demonstrated that HH itself generates GS and starts a process of secondary epileptogenesis responsible for refractory focal or generalized epilepsy. The intrinsic epileptogenicity of HH may be explained by the neurophysiological properties of small GABAergic, spontaneously firing HH neurons. Surgical ablation of HH can reverse epilepsy and encephalopathy. Gamma-knife radiosurgery and image-guided robotic radiosurgery seem to be useful and safe approaches for treatment, in particular of small HH. Here, we review this topic, based on literature reports and our personal observations. In addition, we discuss pathogenetic hypotheses and suggest new approaches to this intriguing issue.
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PMID:The gelastic seizures-hypothalamic hamartoma syndrome: facts, hypotheses, and perspectives. 2250 69

Hypothalamic hamartoma is an archetypal example of subcortical epilepsy that can be associated with intractable gelastic epilepsy, secondary epilepsy, and epileptic encephalopathy. The history of its surgical treatment is fraught with mislocalization of the seizure focus, modest efficacy and a high complication rate. Many minimally invasive techniques have been described to mitigate this high complication profile of which MR-guided laser ablation is one. The technology combines instant effect of thermal coagulation with stereotactic precision and guidance with real time MR thermography. This article presents a series of 71 hypothalamic hamartoma patients operated with laser ablation. Ninety-three percent (93%) were free of gelastic seizures at one year with 23% of the patients requiring more than one ablation. One patient experienced a significant memory deficit and one patient experienced worsening diabetes insipidus. Stereotactic laser ablation appears to be a safe and effective surgical option in the treatment of hypothalamic hamartoma.
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PMID:MR-guided laser ablation for the treatment of hypothalamic hamartomas. 2963 19