Pediatric neurology
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Pediatric neurology · Apr 2009
Risk factors for arterial ischemic and hemorrhagic stroke in childhood.
This study assessed potential etiologies of arterial ischemic stroke and hemorrhagic stroke among children of Mainland China. From January 1996-June 2006, 251 patients with consecutive childhood stroke (aged 1 month through 16 years) were admitted to Beijing Children's Hospital. Arterial ischemic stroke accounted for the majority of cases (62.5%). ⋯ Arteriovenous malformation (6.4%) was a frequent etiology in the remaining hemorrhagic stroke cases. We found that ischemic stroke in children is more common than hemorrhagic stroke, and many cases of ischemic stroke are idiopathic. Vitamin K deficiency was a major etiology in these young infants who experienced hemorrhagic stroke.
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Pediatric neurology · Apr 2009
Multicenter Study Clinical TrialIntrathecal baclofen infusion for ambulant children with cerebral palsy.
This study assessed the effects of continuous intrathecal infusion of baclofen on the gait of ambulant children with cerebral palsy. Details, collected retrospectively before and after pump implantation, included Gillette Functional Assessment Questionnaire score, use of walking aids, Ashworth Scale score, and joint angle at which the stretch reflex was triggered. Twenty-one ambulant children and young adults with cerebral palsy were included. ⋯ Seven children were able to use less supportive walking aids. Continuous intrathecal baclofen infusion appears to decrease spasticity and improve the gait capacity of children with cerebral palsy. Prospective, controlled studies are necessary to prove the functional effect of intrathecal baclofen infusion.
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Pediatric neurology · Apr 2009
Case ReportsVariant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
The neuronal ceroid lipofuscinoses are a heterogeneous group of inherited degenerative disorders of the central nervous system. Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and mutations in CLN1, and occur from infancy to adulthood. We present clinical and diagnostic investigations in six children with variant late infantile neuronal ceroid lipofuscinosis and mutations in CLN1. ⋯ Three unrelated children harboring the same homozygous mutation in CLN1 and a girl who carried a novel mutation resulting in skipping of multiple exons presented with a similar clinical phenotype. The most severe picture occurred in two siblings who carried a homozygous mutation predicting a prematurely truncated protein. Similar to the infantile form, the clinical evolution in this group of patients was characterized by an onset of severe neurologic impairment, peaking within a relatively short period of time, followed by a slower evolution of the disease.
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Pediatric neurology · Feb 2009
Case ReportsA 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
Reported here is the 30-year follow-up of a patient, diagnosed with juvenile neuronal ceroid lipofuscinosis, who was compound heterozygous for the common 1-kb deletion and the missense mutation p. Glu295Lys in the CLN3 gene. ⋯ From then on, there was rapid deterioration, and the patient died at age 39. This case highlights the importance of exact genotyping for disease course prediction and management.
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Pediatric neurology · Feb 2009
Combined central diabetes insipidus and cerebral salt wasting syndrome in children.
Central diabetes insipidus, a common consequence of acute central nervous system injury, causes hypernatremia; cerebral salt wasting syndrome can cause hyponatremia. The two conditions occurring simultaneous are rarely described in pediatric patients. Pediatric cases of combined diabetes insipidus and cerebral salt wasting after acute central nervous system injury between January 2000 and December 2007 were retrospectively reviewed, and clinical characteristics were systemically assessed. ⋯ Central diabetes insipidus and cerebral salt wasting syndrome may occur after acute central nervous system injury. A combination of both may impede accurate diagnosis. Proper differential diagnoses are critical, because the treatment strategy for each entity is different.