PubMed · 2844501
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U Tacke. 1988. [Activated amino acid receptors in normal and pathologic brain function].. https://pubmed.ncbi.nlm.nih.gov/2844501/
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Hypomyelinating leukoencephalopathies are characterized by a substantial and permanent deficit in myelin deposition in the brain. Although our knowledge and understanding of the etiology of white matter diseases has progressively increased, many cases with this disorder remain undiagnosed, despite extensive evaluations. Recently, new disease entities have been defined by combining magnetic resonance imaging pattern recognition and clinical features. We describe a 1-year-old Ashkenazi Jewish girl with a hypomyelinating leukoencephalopathy, who presented in the neonatal period with episodes of sustained paroxysmal tonic upward gaze, roving eye movements, pendular nystagmus, and severe hypotonia, with the later appearance of pyramidal and extrapyramidal signs and no development. In addition, she has dysmorphic signs. This clinical picture is not consistent with any of the previously described hypomyelinating leukoencephalopathies and may represent a new entity.
This article reviews four of the involuntary hyperkinetic motor disorders that affect the orofacial region: bruxism, orofacial dystonia, oromandibular dyskinesia, and medication-induced extrapyramidal syndrome-dystonic reactions. It discusses and contrasts the clinical features and management strategies for spontaneous, primary, and drug-induced motor disorders in the orofacial region. The article provides a list of medications that have been reported to cause drug-related extrapyramidal motor activity, and discusses briefly the genetic and traumatic events that are associated with spontaneous dystonia. Finally, it presents an approach for management of the orofacial motor disorders. The contraindications, side effects, and usual approach for medications and injections are covered. An overview of the indications, contraindications, and complications of using botulinum toxin as a therapeutic modality is discussed briefly.
We describe the neuroradiologic findings in a 7-year-old boy with anomalous intracranial venous drainage and cerebral calcification. CT scans demonstrated that his scalp mass was a plexus of scalp veins filled through the emissary foramen, and there were cerebral calcifications. Angiography revealed bilateral sigmoid sinus atresia with most of the intracranial venous drainage via the prominent mastoid emissary veins into dilated scalp vein. The possible relationship between cerebral calcification and anomalous intracranial venous drainage is discussed.