Chenhui Mao1, Jie Li1, Xinying Huang1, Jie Wang1, Shanshan Chu1, Yao Zhang1, Liling Dong1, Caiyan Liu1, Lin Lu2, Ling Qiu3, Wei Chen4, Bin Peng1, Liying Cui1, Jing Gao5. 1. Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Dongcheng District, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China. 2. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China. 3. Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China. 4. Department of Clinical Nutrition, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China. 5. Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Dongcheng District, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, 100730, China. gj107@163.com.
Abstract
OBJECTIVE: The objective of this study is to describe the typical and atypical clinical and neuroimaging features of ALD in Chinese patients, which will help early diagnosis and intervention to improve prognosis of ALD. METHODS: Forty-one patients in the Leukoencephalopathy Clinic of Neurology Department, Peking Union Medical College Hospital were enrolled. Detailed clinical manifestations and MRI features were analyzed. The relationship between phenotype and genotype as well as biochemical analysis was observed. RESULTS: The patients were classified according to phenotype and onset age, including 14 childhood cerebral ALD (CCALD), 8 adolescent cerebral ALD (adoCALD), 3 adult cerebral ALD (ACALD), 14 adrenomyeloneuropathy (AMN), and 2 ALD in women. AMN was the main presentation in adults. Visual impairment was usual onset symptom in CCALD and cognitive decline and psychiatric symptoms were found in adoCALD and ACALD. Typical MRI feature of CALD was symmetrical peri-ventricular "butterfly wings" like lesions in frontal and/or occipital lobe with peripheral DWI hyperintensities and Gd enhancement. Corpus callosum and internal capsule were always involved. Unilateral lesions were also possible. Cerebral AMN presented with centrum semiovale diffuse involvement. Spinocerebellar variant was a special subtype of AMN with obvious cerebellar and brainstem lesions. No relationships between phenotype and genotype as well as biochemical VLCFAs analysis were found. CONCLUSIONS: We emphasize that corpus callosum and internal capsule are always involved in ALD. A unilateral lesion is also possible. Neuroimaging of cerebral AMN is different from typical CALD with more centrum semiovale involvement. We support spinocerebellar variant was a rare subtype of AMN.
OBJECTIVE: The objective of this study is to describe the typical and atypical clinical and neuroimaging features of ALD in Chinese patients, which will help early diagnosis and intervention to improve prognosis of ALD. METHODS: Forty-one patients in the Leukoencephalopathy Clinic of Neurology Department, Peking Union Medical College Hospital were enrolled. Detailed clinical manifestations and MRI features were analyzed. The relationship between phenotype and genotype as well as biochemical analysis was observed. RESULTS: The patients were classified according to phenotype and onset age, including 14 childhood cerebral ALD (CCALD), 8 adolescent cerebral ALD (adoCALD), 3 adult cerebral ALD (ACALD), 14 adrenomyeloneuropathy (AMN), and 2 ALD in women. AMN was the main presentation in adults. Visual impairment was usual onset symptom in CCALD and cognitive decline and psychiatric symptoms were found in adoCALD and ACALD. Typical MRI feature of CALD was symmetrical peri-ventricular "butterfly wings" like lesions in frontal and/or occipital lobe with peripheral DWI hyperintensities and Gd enhancement. Corpus callosum and internal capsule were always involved. Unilateral lesions were also possible. Cerebral AMN presented with centrum semiovale diffuse involvement. Spinocerebellar variant was a special subtype of AMN with obvious cerebellar and brainstem lesions. No relationships between phenotype and genotype as well as biochemical VLCFAs analysis were found. CONCLUSIONS: We emphasize that corpus callosum and internal capsule are always involved in ALD. A unilateral lesion is also possible. Neuroimaging of cerebral AMN is different from typical CALD with more centrum semiovale involvement. We support spinocerebellar variant was a rare subtype of AMN.
Authors: Christel Tran; Jaina Patel; Hewson Stacy; Eva G Mamak; Hanna Faghfoury; Julian Raiman; Joe T R Clarke; Susan Blaser; Saadet Mercimek-Mahmutoglu Journal: Eur J Paediatr Neurol Date: 2017-02-21 Impact factor: 3.140
Authors: Florian Eichler; Christine Duncan; Patricia L Musolino; Paul J Orchard; Satiro De Oliveira; Adrian J Thrasher; Myriam Armant; Colleen Dansereau; Troy C Lund; Weston P Miller; Gerald V Raymond; Raman Sankar; Ami J Shah; Caroline Sevin; H Bobby Gaspar; Paul Gissen; Hernan Amartino; Drago Bratkovic; Nicholas J C Smith; Asif M Paker; Esther Shamir; Tara O'Meara; David Davidson; Patrick Aubourg; David A Williams Journal: N Engl J Med Date: 2017-10-04 Impact factor: 91.245
Authors: Marc Engelen; Stephan Kemp; Marianne de Visser; Björn M van Geel; Ronald J A Wanders; Patrick Aubourg; Bwee Tien Poll-The Journal: Orphanet J Rare Dis Date: 2012-08-13 Impact factor: 4.123
Authors: Afonso P Liberato; Eric J Mallack; Razina Aziz-Bose; Doug Hayden; Arne Lauer; Paul A Caruso; Patricia L Musolino; Florian S Eichler Journal: Neurology Date: 2019-03-22 Impact factor: 11.800