Peripheral nervous system manifestations of Chediak-Higashi disease
| Autor: | Barbara Lear, Camilo Toro, Tanya J. Lehky, Catherine Groden, Wendy J. Introne |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Physiology business.industry Neurodegeneration Sensory system Disease medicine.disease 03 medical and health sciences Cellular and Molecular Neuroscience 030104 developmental biology 0302 clinical medicine Peripheral neuropathy medicine.anatomical_structure Physiology (medical) Peripheral nervous system Chediak higashi medicine Sensory neuropathy cardiovascular diseases Neurology (clinical) business 030217 neurology & neurosurgery Natural history study |
| Zdroj: | Muscle & Nerve. 55:359-365 |
| ISSN: | 0148-639X |
| Popis: | INTRODUCTION Chediak-Higashi disease (CHD) is a rare autosomal recessive disorder with hematologic, infectious, pigmentary, and neurologic manifestations. Classic CHD (C-CHD) presents in early childhood with severe infectious or hematologic complications unless treated with bone marrow transplantation. Atypical CHD (A-CHD) has less severe hematologic and infectious manifestations. Both C-CHD and A-CHD develop neurological problems. METHODS Eighteen patients with CHD (9 A-CHD and 9 C-CHD) underwent electrodiagnostic studies as part of a natural history study (NCT 00005917). Longitudinal studies were available for 10 patients. RESULTS All A-CHD patients had either sensory neuropathy, sensorimotor neuropathy, and/or diffuse neurogenic findings. In C-CHD, 3 adults had sensorimotor neuropathies with diffuse neurogenic findings, and 1 adult had a sensory neuropathy. The 5 children with C-CHD had normal electrodiagnostic findings. CONCLUSIONS CHD can result in sensory or sensorimotor neuropathies and/or a diffuse motor neuronopathy. It may take 2-3 decades for the neuropathic findings to develop, because children appear to be spared. Muscle Nerve 55: 359-365, 2017. |
| Databáze: | OpenAIRE |
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