A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction

Jung, Sung Eun; Chung, Jong Won; Yun, Ji Young; Kim, Han Joon; Jeon, Beom S.

doi:10.14802/jmd.09025

Cited by 5 publications

(3 citation statements)

References 12 publications

(9 reference statements)

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“…Among the 37 cases with AVALD in the literature [ 12 , 17 , 24 – 38 ], brain MRI information was available in 18 individuals. Clinical data, brain MRI features regarding the WMH in the corticospinal tracts and cerebellar hemispheres, plasma VLCFA levels and mutations in ABCD1 were also obtained from the literature review.…”

Section: Methodsmentioning

confidence: 99%

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Chen

Lee

Tsai³

et al. 2017

PLoS ONE

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Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102). Brain MRIs were scrutinized for white matter hyperintensity (WMH) in the parieto-occipital lobes, frontal lobes, corticospinal tracts, pons, middle cerebellar peduncles and cerebellar hemispheres. Two ABCD1 mutations (p.S108L and p.P623fs) previously linked to cerebral ALD and adrenomyeloneuropathy but not AVALD were identified. ALD accounts for 0.85% (1/118) of the patients with molecularly unassigned hereditary ataxia and 0.34% (1/296) of the patients with sporadic ataxia with autonomic dysfunctions. WMH in the corticospinal tracts and WMH in the cerebellar hemispheres were strongly associated with AVALD rather than other ataxias. To conclude, ALD accounts for approximately 0.39% (2/516) of adult-onset cerebellar ataxias. This study expands the mutational spectrum of AVALD and underscores the importance of considering ALD as a potential etiology of cerebellar ataxia.

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Section: Methodsmentioning

confidence: 99%

Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Chen

Lee

Tsai³

et al. 2017

PLoS ONE

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“…It is characterized by progressive symmetrical demyelination of the white matter (49). This condition determines progressive neurological damage leading to loss of swallowing ability and fecal continence (50). As in CP, in X-ALD there is no direct involvement of the GI system and consequently the GI problems are related to hypomobility and a loss of central co-regulation and control (47).…”

Section: X-linked Adrenoleukodystrophymentioning

confidence: 99%

Gut dysmotility in children with neurological impairment: the nutritional management

et al. 2023

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Intestinal motility disorders represent a frequent problem in children with neurological impairment. These conditions are characterized by abnormal movements of the gut, which can result in symptoms such as constipation, diarrhea, reflux, and vomiting. The underlying mechanisms leading to dysmotility are various, and the clinical manifestations are often nonspecific. Nutritional management is an important aspect of care for children with gut dysmotility, as it can help to improve their quality of life. Oral feeding, when safe and in the absence of risk of ingestion or severe dysphagia, should always be encouraged. When oral nutrition is insufficient or potentially harmful, it is necessary to switch to an enteral by tube or parenteral nutrition before the onset of malnutrition. In most cases, children with severe gut dysmotility may require feeding via a permanent gastrostomy tube to ensure adequate nutrition and hydration. Drugs may be necessary to help manage gut dysmotility, such as laxatives, anticholinergics and prokinetic agents. Nutritional management of patients with neurological impairment often requires an individualized care plan to optimize growth and nutrition and to improve overall health outcomes. This review tries to sum up most significant neurogenetic and neurometabolic disorders associated with gut dysmotility that may require a specific multidisciplinary care, identifying a proposal of nutritional and medical management.

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“…Among the 37 cases with AVALD in the literature [12,17,[24][25][26][27][28][29][30][31][32][33][34][35][36][37][38], brain MRI information was available in 18 individuals. Clinical data, brain MRI features regarding the WMH in the corticospinal tracts and cerebellar hemispheres, plasma VLCFA levels and mutations in ABCD1 were also obtained from the literature review.…”

Section: Clinical Evaluation Of Patients With Avaldmentioning

confidence: 99%