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]

• Poor Feeding

  feeding and can be lethal at very young ages. [flystocks.bio.indiana.edu]

  The condition typically presents in neonates with poor feeding and/or seizures. It results from an abnormality in peroxisomal metabolism. It is the most severe of the peroxisomal disorders 6. [radiopaedia.org]

  Features during the newborn period include hypotonia, poor feeding, distinctive facial features, seizures, and liver cysts with hepatic dysfunction. [egl-eurofins.com]

• Small Hand

  […] they also usually have shortened limbs to some degree and small hands and feet. Affected children generally show symptoms from birth such as jaundice, hypotonia, failure to thrive and liver dysfunction. [zellweger.org.uk]

• Hearing Problem

  Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. [rarediseases.info.nih.gov]

• Progressive Hearing Loss

  This patient presented with congenital cataracts, mild intellectual disability, progressive hearing loss, sensory nerve involvement, gastrointestinal problems, as well as recurrent migraine-like episodes. 9 All peroxisome biogenesis disorders leading [nature.com]

• Neonatal Onset

  They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and other long bones), and liver disease that can [ncbi.nlm.nih.gov]

  Zellweger syndrome (ZS) is the most severe with neonatal onset, and characterized by typical craniofacial dysmorphism and profound hypotonia, severe seizures, and inability to feed. [preventiongenetics.com]

  Visit for more related articles at Journal of Clinical Case Reports Abstract Zellweger syndrome (ZS) disorders are autosomal recessive peroxisomal biogenesis diseases mainly characterized by neonatal onset severe neurodevelopmental delay, profound hypotonia [omicsonline.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]

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]

Internal Medicine (477) Paediatrics, Neonatology (424) Pathology and Forensic Medicine (323) Neurology (308) Physiology and Pathophysiology (276) Genetics (255) Surgery, Traumatology and Orthopaedics (219) Medical Chemistry and Biochemistry (216) Infectology [portal.mefanet.cz]

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]

The extracted information was categorized as 1) host/parasite interaction: the pathophysiological aspects; 2) clinical-pathological features; 3) diagnosis; and 4) therapy. [scielo.br]

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]