A Case of Zellweger Syndrome with Extensive MRI Abnormalities and Unusual EEG Findings

Panjan, Darja Paro; Meglič, Nuška Pečarič; Neubauer, David

doi:10.1177/155005940103200108

Cited by 4 publications

(2 citation statements)

References 16 publications

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“…Other findings are presented in Table 2A and Table S5. Some metabolic diseases are known to cause changes in brain images, regardless of whether cholestasis is present 54–75 . The details can be seen in Table 2B and Table S3.…”

Section: Resultsmentioning

confidence: 99%

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Helt,

Johansen,

Faurholt‐Jepsen

et al. 2024

Acta Paediatrica

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AimTo determine if children with neonatal cholestatic liver disease had concurrent and later findings on brain imaging studies that could be attributed and the cholestasis to contribute to the understanding of the impaired neuropsychological development.MethodsOvid MEDLINE and EMBASE were searched on July 21, 2022, and updated on March 26, 2023. Studies with children under 18 years of age with neonatal cholestasis and a brain scan at the time of diagnosis or later in life were included. Excluded studies were non‐English, non‐human, reviews or conference abstracts. Data were extracted on demographics, brain imaging findings, treatment and outcome. The results were summarised by disease categories. Risk of bias was assessed using JBI critical appraisal tools.ResultsThe search yielded 12 011 reports, of which 1261 underwent full text review and 89 were eligible for inclusion. Haemorrhage was the most common finding, especially in children with bile duct obstruction, including biliary atresia. Some findings were resolved after liver transplantation.ConclusionChildren with neonatal cholestasis had changes in brain imaging, which might play a role in impaired neuropsychological development, but longitudinal clinical research with structured assessment is needed to better qualify the aetiology of the impairment.

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Section: Resultsmentioning

confidence: 99%

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Helt,

Johansen,

Faurholt‐Jepsen

et al. 2024

Acta Paediatrica

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“…There were 9 cohort studies ( Table 1 ) [ 12 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 ] and 38 case studies ( Table 2 ) that described 119 patients (72 from cohort studies, 46 from case studies) with severe ZSD [ 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 , 92 , 93 , 94 , 95 , 96 ], although most studies did not evaluate all the symptoms and other clinical findings that were included in this review. The prevalence of seizures (70.8%, out of n = 72 total) and brain abnormalities (69.4%, out of n = 49 total) in the cohort studies was significantly greater in patients in the severe category compared to those in the intermediate category ( ...…”

Section: Resultsmentioning

confidence: 99%

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Bose

Yergeau

D'Souza

et al. 2022

Cells

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Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in understanding individual prognosis and treatment effectiveness. The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if characterization of clinical findings can predict severity in ZSD. Our PubMed search for articles describing severity, clinical findings, and survival in ZSD resulted in 107 studies (representing 307 patients) that were included in the review and meta-analysis. We also collected and analyzed these same parameters from medical records of 136 ZSD individuals from our natural history study. Common clinical findings that were significantly different across severity categories included seizures, hypotonia, reduced mobility, feeding difficulties, renal cysts, adrenal insufficiency, hearing and vision loss, and a shortened lifespan. Our primary data analysis also revealed significant differences across severity categories in failure to thrive, gastroesophageal reflux, bone fractures, global developmental delay, verbal communication difficulties, and cardiac abnormalities. Univariable multinomial logistic modeling analysis of clinical findings and very long chain fatty acid (VLCFA) hexacosanoic acid (C26:0) levels showed that the number of clinical findings present among seizures, abnormal EEG, renal cysts, and cardiac abnormalities, as well as plasma C26:0 fatty acid levels could differentiate severity categories. We report the largest characterization of clinical findings in relation to overall disease severity in ZSD. This information will be useful in determining appropriate outcomes for specific subjects in clinical trials for ZSD.

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Peroxisome Biogenesis Defects

2005

Magnetic Resonance of Myelination and Myelin Disorders

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A Case of Zellweger Syndrome with Extensive MRI Abnormalities and Unusual EEG Findings

Cited by 4 publications

References 16 publications

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review

Peroxisome Biogenesis Defects

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