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Peripheral nervous system (PNS) manifestations of Chediak-Higashi Disease (CHD) #MMPMID27429304
Lehky TJ; Groden C; Lear B; Toro C; Introne WJ
Muscle Nerve 2017[Mar]; 55 (3): 359-65 PMID27429304show ga
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 (BMT). 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 (NCT00005917). 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. Discussion: 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, since children appear to be spared.
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Muscle+Nerve 2017 ; 55 (3): 359-65
