Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy

Paul, David A.; Goldsmith, Leonard S.; Miles, Daniel; Moser, Ann B.; Spiro, Alfred J.; Grover, Warren D.

doi:10.1016/0887-8994(93)90034-a

Cited by 5 publications

(1 citation statement)

References 5 publications

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“…There were 10 cohort studies [ 12 , 28 , 29 , 39 , 51 , 58 , 98 , 99 , 100 , 101 ] and 18 case studies [ 60 , 93 , 101 , 102 , 103 , 104 , 105 , 106 , 107 , 108 , 109 , 110 , 111 , 112 , 113 , 114 , 115 , 116 ] that described 77 (54 from cohort studies, 23 from case studies) patients with an intermediate form of ZSD. In the cohort studies, the prevalence of seizures (51.0%, out of n = 51), brain abnormalities (15.4%, out of n = 26), hypotonia (97.6%, out of n = 41), reduced mobility (70.8%, out of n = 24), feeding difficulties (52.9%, out of n = 17), abnormal liver function or structure (79.0%, out of n = 38), adrenal insufficiency (57.1%, out of n = 28), and hearing loss (57.1%, out of n = 28) was significantly greater in the intermediate category compared to the mild category ( p ≤ 0.011, Table 1 ).…”

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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