Tanya J Lehky1, Catherine Groden2, Barbara Lear1, Camilo Toro2, Wendy J Introne2. 1. EMG Section, National Institute of Neurological Disorders and Stroke, 10 Center Drive MSC 1404, Building 10 CRC Room 7SW-5680NIH, Bethesda, Maryland, USA, 20892. 2. Office of the Clinical Director, Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Abstract
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.
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.
Authors: Wendy Westbroek; David Adams; Marjan Huizing; Amy Koshoffer; Heidi Dorward; Bradford Tinloy; Jennifer Parkes; Amanda Helip-Wooley; Robert Kleta; Ekaterina Tsilou; Patrice Duvernay; Kathleen B Digre; Donnell J Creel; James G White; Raymond E Boissy; William A Gahl Journal: J Invest Dermatol Date: 2007-05-31 Impact factor: 8.551
Authors: James D Weisfeld-Adams; Lakshmi Mehta; Janet C Rucker; Francine R Dembitzer; Arnold Szporn; Fred D Lublin; Wendy J Introne; Vikas Bhambhani; Michael C Chicka; Catherine Cho Journal: Orphanet J Rare Dis Date: 2013-03-22 Impact factor: 4.123
Authors: Jacob C Zbinden; Gabriel J M Mirhaidari; Kevin M Blum; Andrew J Musgrave; James W Reinhardt; Christopher K Breuer; Jenny C Barker Journal: Wound Repair Regen Date: 2021-11-27 Impact factor: 3.617