Browse Items · Pediatric Palliative Care Library

An update on the leukodsytrophies

This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We…

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive…

Neurologic course of congenital disorders of glycosylation

Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and…

Neurologic presentations of mitochondrial disorders

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial…

New treatment paradigms in neonatal metabolic epilepsies.

Neonatal seizures represent a major challenge among the epilepsies vis-a-vis seizure classification, electroclinical correlation, inherent excitability of neocortex, ontogenic characteristics of neurotransmitter receptors, and responsiveness to…

Tay-Sachs disease: Progression of changes on neuroimaging in four cases.

The neuroradiological findings in four patients with Tay-Sachs disease are described in three phases of the clinical course. The basal ganglia and cerebral white matter show low density on computed tomography and high signal intensity on T2-weighted…

Termination of nutrition and hydration in a child with vegetative state

A child in a vegetative state may present difficult decisions for physicians and families regarding the course of treatment. We report a case of a child who entered a prolonged vegetative state following status epilepticus. The child's parents…

Type I glutaric aciduria, part 1: natural history of 77 patients

Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and…

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