Peroxisome biogenesis disorders (PBDs) are a genetically heterogeneous group of metabolic diseases caused by impaired peroxisome assembly and function. PBDs exhibit striking clinical variability, ranging from lethal neonatal forms (e.g., Zellweger spectrum disorders) to milder childhood-onset presentations such as rhizomelic chondrodysplasia punctata. While elevated levels of very-long-chain fatty acids (VLCFAs) remain a key diagnostic feature, the existence of unusual cases with normal plasma VLCFA levels highlight the limitations of relying solely on this biochemical marker for diagnosis. Genetic variations in PEX6, an important peroxisome biogenesis factor, contribute significantly to this phenotypic diversity, with missense variants often associated with less severe disease compared to truncating mutations. Recent studies further implicate dysregulated pexophagy—a targeted autophagic degradation of peroxisomes—in the underlying disease mechanisms. This review underscores the necessity for a multifaceted diagnostic approach that, thorough clinical assessment, detailed biochemical evaluation, and advanced molecular genetic testing, seeks to improve diagnostic accuracy and patient care, particularly in pediatric populations. Advancements in identifying novel biomarkers and targeted therapies offer promise for tailored interventions, underscoring the importance of precision medicine in optimizing outcomes for pediatric PBD patients.

Purpose: Idiopathic intracranial hypertension (IIH) is a clinical syndrome that mimics brain tumors with increased intracranial pressure. The present study is designed to investigate the diagnostic criteria of magnetic resonance imaging (MRI) and the severity of cerebrospinal fluid (CSF) pressure to understand the relationship and frequency of these criteria with the level of CSF pressure. Methods: The present cross-sectional study was conducted on children diagnosed with IIH between the years 2011 and 2020, who were admitted to the pediatric neurology department of Ghaem Hospital, Mashhad, Iran. Clinical manifestations and imaging findings of the patients were recorded through a checklist. Results: Forty-nine patients were included in the study; 27 (55.1%) were male, and 22 (44.9%) were female. The average CSF pressure was 40.64±20.63 cmH2O. The mean diameter distension of the perioptic subarachnoid space was 6.02±1.21 mm. Six (10.8%) patients had unilateral transverse sinus stenosis with an average CSF pressure of 20.47±36.80 cmH2O and 11 (21.4%) patients had bilateral transverse sinus stenosis with an average pressure of 48.22±21.04 cmH2O. In 22 (44.89%) patients, flattening of the posterior globe with the CSF pressure of 48.80±17.94 cmH2O was reported. Twenty-four (49%) patients had optic nerve tortuosity, with an average CSF pressure of 46.52±20.33 cmH2O. Among the diagnostic criteria, the pressure had a significant relationship with the flattening of the posterior globe (P<0.022). Conclusion Since MRI is a non-invasive method for examining IIH, the findings of this study may aid in diagnosing and monitoring these patients.