The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
2008
Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Movement Disorders: Official Journal Of The Movement Disorder Society
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Sedation for children with metachromatic leukodystrophy undergoing MRI
Child; Female; Humans; Male; Prospective Studies; Treatment Outcome; Reference Values; Preschool; Dose-Response Relationship; Drug; Brain/anatomy & histology/pathology; Seizures/complications/diagnosis; Leukodystrophy; Anesthesia/adverse effects/methods; Artifacts; Hypnotics and Sedatives/adverse effects/therapeutic use; Magnetic Resonance Imaging/methods; Metachromatic/complications/diagnosis; Propofol/adverse effects/therapeutic use; Thiopental/adverse effects/therapeutic use
BACKGROUND: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease with infantile and juvenile onset with a poor prognosis and magnetic resonance imaging (MRI) plays a fundamental role in its diagnosis. Procedural sedation is needed to carry out MRI on children. Very few case reports have been published on anesthesia or sedation for MLD patients. METHODS: We prospectively studied 18 MLD patients undergoing sedation for brain MRI. Twenty consecutive similar-aged ASA I children undergoing MRI during the same time span for suspected seizures and exhibiting no MRI brain alteration healthy (HLT) patients were also studied for comparison. In patients up to 3 years of age (TMLD and THLT groups), sedation was induced with thiopental 5 mg x kg(-1) i.v. and further 2.5 mg x kg(-1) i.v. rescue boluses were given if the sedation level was inadequate. In patients over 3 years of age (PMLD and PHLT groups), sedation was induced with propofol 1-1.5 mg x kg(-1) i.v. and maintained with 0.1-0.15 mg x kg(-1) x min(-1) continuous i.v. infusion, which was increased if the sedation level was inadequate. We recorded complications, if any, caused by sedation (hypoxia, vomiting, bradycardia, other major arrhythmias, convulsions, MRI artifact movements with increasing sedation, prolonged recovery). Results: No sedation complications occurred. The mean dose of thiopental required to warrant patient immobility was 0.227 +/- 0.053 mg x kg(-1) x min(-1) of procedure in TMLD patients and 0.119 +/- 0.061 mg x kg(-1) x min(-1) of procedure in THLT patients (difference not significant). The mean dose of propofol required for immobility was 0.119 +/- 0.054 mg x kg(-1) x min(-1) of procedure in TMLD patients and 0.115 +/- 0.043 mg x kg(-1) x min(-1) of procedure in THLT patients (difference not significant). CONCLUSIONS: Our protocol for sedation in the MRI setting proved safe and effective in children with MLD, who do not require different doses of sedatives compared with healthy children.
2007
Mattioli C; Gemma M; Baldoli C; Sessa M; Albertin A; Beretta L
Paediatric Anaesthesia
2007
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1111/j.1460-9592.2006.02002.x" target="_blank" rel="noreferrer">10.1111/j.1460-9592.2006.02002.x</a>