Neuropediatrics
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Comparative Study
Brain MRI and proton MRS findings in infants and children with respiratory chain defects.
The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess their role in the diagnostic evaluation. ⋯ Brain MRI and proton MRS abnormalities were observed only in association with clinical CNS involvement. Deep gray matter signal abnormalities on structural imaging and lactate elevation on proton MRS were more frequently observed in the "definite" group and represent neuroimaging markers for RC mitochondriopathy.
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Children with acute peripheral facial palsy have often suffered tick bites and/or erythema migrans in the head/neck region on the same side. With respect to the pathogenesis of neuroborreliosis this topographical association was investigated in an animal model. ⋯ An infection with Borrelia garinii in the subauricular region induces an ipsilateral neuritis of peripheral nerves. The particular vulnerability of the human facial nerve may be a result of its long intraosseus course. Thus, an inflammatory edema may injure the nerve in the canalis facialis.
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Propofol is used for the treatment of refractory status epilepticus. When given as a long-term infusion propofol may cause a rare but frequently fatal complication, the propofol infusion syndrome. The hallmarks are metabolic acidosis, lipemia, rhabdomyolysis and myocardial failure. ⋯ Beside anticonvulsants the ketogenic diet, a high-fat, low-carbohydrate, adequate-protein diet, is an effective treatment for difficult-to-control seizures. We report a 10-year-old boy with catastrophic epilepsy, who developed fatal propofol infusion syndrome when a ketogenic diet was initiated. Substances like propofol which impair fatty acid oxidation may pose an increased risk if combined with ketogenic diet.
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Case Reports
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Congenital myasthenic syndromes (CMS) with deficiency of endplate acetylcholinesterase (AChE) are caused by mutations in the synapse specific collagenic tail subunit gene (COLQ) of AChE. We identified a novel missense mutation (T441A) homozygously in three CMS patients from two unrelated German families. The mutation is located in the C-terminal region of the ColQ protein, which initiates assembly of the triple helix, and is essential for insertion of the tail subunit into the basal lamina. ⋯ All patients were characterized by an onset of disease in childhood, exercise-induced proximal weakness, absence of ptosis and ophthalmoparesis, a decremental EMG response, and deterioration in response to anticholinesterase drugs. However, age at onset, disease progression, disease severity, and functional impairment varied considerably among the three patients. As adults, two siblings from one family experience only mild impairment, while the third patient requires a wheelchair for most of the day and assisted ventilation at night.
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Behçet's disease (BD), a systemic vasculitis of unknown cause, affects many organs and systems. Neurological involvement is seen in 5-15% of the patients, and the two major forms of neurological disease seen in BD are central nervous system (CNS) parenchymal involvement and cerebral venous sinus thrombosis. ⋯ The diagnosis of the systemic disease was not made until the onset of the neurological manifestations, which led to an MRI study that revealed findings suggestive of CNS involvement of BD. We therefore emphasize the importance of the localization and appearance of other characteristics of the lesions on MRI in the differential diagnosis of parenchymal neuro-Behçet syndrome.