Atypical presentations of PBD-ZSS have recently been recognized. Etiology The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. [orpha.net]

The Zellweger spectrum disorders overlap in clinical presentation, with Zellweger syndrome having the most severe symptomatology, X-linked adrenoleukodystrophy a milder presentation, and infantile Refsum disease milder, still 1,2. [radiopaedia.org]

Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. [diseaseinfosearch.org]

Clinical Characteristics Ocular Features: This peroxisomal disorder presents in the first year of life with both systemic and ocular features. [disorders.eyes.arizona.edu]

• Nail Abnormality

  abnormalities in sibs. 71 Heimler A...Crespi P 2063923 1991 [malacards.org]

A diagnosis of lupus erythematosus tumidus (LET) was made based on lesion morphology, supportive histopathology, and negative laboratory workup. The patient was started on hydroxychloroquine 200 mg twice daily and topical steroids. [onlinelibrary.wiley.com]

Bone Regarding treatment of bone disease, a recent study has reported successful treatment with bisphosphonate medications in a patient. [checkrare.com]

Treatment There is no cure for Zellweger syndrome, nor is there a standard course of treatment. [brainfacts.org]

There is no specific treatment for these disorders, and management is supportive. [clinicaltrials.gov]

TREATMENT There is no cure for ZS, nor is there a standard course of treatment. [secure.ssa.gov]

Molecular analysis is likely to expand the clinical spectrum of PBD and may also provide data relevant to prognosis and future therapeutic intervention. However, the large number of genes involved has thus far impeded rapid mutation identification. [jhu.pure.elsevier.com]

There is no curative treatment and the condition carries a poor prognosis with death occurring within the first year of life. [radiopaedia.org]

Prognosis The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure. [brainfacts.org]

Prognosis Regardless of interventions, prognosis is poor with most infants dying within the first year of life secondary to respiratory compromise related to infection or intractable epilepsy. [orpha.net]

This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders. [jhu.pure.elsevier.com]

Etiology The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. [orpha.net]

This case review reveals the variety of etiologies that cause edema. An algorithm is created from these cases to assist in navigating the broad differential for eyelid edema. [iovs.arvojournals.org]

Summary Epidemiology The estimated incidence for PBD-ZSS is 1/50,000 births in the United States and 1/500,000 births in Japan. [orpha.net]

Relevant External Links for PEX2 Genetic Association Database (GAD) PEX2 Human Genome Epidemiology (HuGE) Navigator PEX2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PEX2 No data available for Genatlas for PEX2 Gene A human gene responsible [genecards.org]

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113. Review. Citation on PubMed Crane DI, Maxwell MA, Paton BC. [medlineplus.gov]

Molecular basis and disease pathophysiology Much progress in understanding the molecular defects and pathophysiology of peroxisomal disorders has been made by studying peroxisome function and biogenesis (i.e. assembly) in different cell models, through [healtheuropa.eu]

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013; 17(3):187-96. PMID: 23798008 Carrozzo, R, et al. Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Am. J. Med. Genet. [invitae.com]

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Prevention – ZSD Since ZSD’s are caused by genetic defect, there is no known prevention. [checkrare.com]

Prevention of Zellweger Syndrome Zellweger syndrome cannot be prevented. However, genetic counseling is recommended to individuals with family history of the disease. [ic.steadyhealth.com]

Prevention Unfortunately not enough is yet known about these diseases to develop comprehensive strategies for prevention. Genetic counseling is recommended for known or suspected carriers. [medical-dictionary.thefreedictionary.com]

Intermittent preventive treatment for the prevention of malaria during pregnancy in high transmission areas. Malar J. 2007 Dec 4. 6:160. [Medline]. [Full Text]. Trape JF, Tall A, Diagne N, et al. [medscape.com]

Antimalarial drugs Antimalarial medicines can also be used to prevent malaria. For travellers, malaria can be prevented through chemoprophylaxis, which suppresses the blood stage of malaria infections, thereby preventing malaria disease. [who.int]