Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
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Acyl-CoA Dehydrogenase, Long-Chain↗
Biomedical subjects
Nicol C Voermans
Publications and source records attributed to Nicol C Voermans.
Secondary parkinsonism in childhood: A rare complication after radiotherapy.
Secondary parkinsonism is uncommon in children and exceedingly rare after cranial radiotherapy. This report describes a 14-year-old female who presented with growth retardation as a result of a craniopharyngioma, which was partially resected. A secondary hydrocephalus responded well to shunting. She gradually developed a severe hypokinetic-rigid syndrome 6 months after radiotherapy (54 Gray in 30 daily fractions of 1.8 Gray). In addition, her vigilance decreased. Magnetic resonance imaging revealed increased signal intensity on T2-weighted images in the globus pallidus bilaterally. Nuclear scans indicated only a marginal striatal dopaminergic deficit and revealed decreased metabolism in the thalamus bilaterally. Treatment with dopamine agonists resulted in minor improvement in motor function. Magnetic resonance imaging investigations 3 months later disclosed a decrease of signal intensity changes of the globus pallidus. Gradually, bradykinesia diminished slightly and vigilance increased little. In conclusion, secondary and partially reversible parkinsonism can occur in children after radiotherapy. We suggest that focal encephalopathy resulting from postradiation edema secondary to microangiopathy led to dysfunction of the globus pallidus and thalamus.
Adolescent↗
Pediatric median neuropathy due to pruritus in Alagille syndrome.
Median entrapment neuropathy or carpal tunnel syndrome is uncommon in children. The majority of cases are related to genetic conditions which result in skeletal dysplasia or altered connective tissue characteristics, direct injury to the median nerve caused by intensive sports or trauma, or hereditary neuropathy with liability to pressure palsies. This report describes a 10-year-old patient with Alagille syndrome who presented with poor fine motor skills because of an entrapment neuropathy of the median nerve at the wrist. This condition was probably caused by intermittent external compression at the wrists due to years of rubbing both wrists and hands to relieve pruritus. To our knowledge, median neuropathy has never been associated with Alagille syndrome, although severe pruritus is considered a major symptom and many patients exhibit widespread scratching and rubbing.
Alagille Syndrome↗
Permanent loss of cervical spinal cord function associated with the posterior approach.
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Adult↗
Interaction between the human hippocampus and the caudate nucleus during route recognition.
Navigation through familiar environments can rely upon distinct neural representations that are related to different memory systems with either the hippocampus or the caudate nucleus at their core. However, it is a fundamental question whether and how these systems interact during route recognition. To address this issue, we combined a functional neuroimaging approach with a naturally occurring, well-controlled human model of caudate nucleus dysfunction (i.e., preclinical and early-stage Huntington's disease). Our results reveal a noncompetitive interaction so that the hippocampus compensates for gradual caudate nucleus dysfunction with a gradual activity increase, maintaining normal behavior. Furthermore, we revealed an interaction between medial temporal and caudate activity in healthy subjects, which was adaptively modified in Huntington patients to allow compensatory hippocampal processing. Thus, the two memory systems contribute in a noncompetitive, cooperative manner to route recognition, which enables the hippocampus to compensate seamlessly for the functional degradation of the caudate nucleus.
Adult↗