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Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorder


Presentation

  • Treatment typically focuses on the specific signs and symptoms present in each individual. [2] Last updated: 10/16/2017[rarediseases.info.nih.gov]
  • Recognize all the nuances of how pathological lesions present through over 800 full-color illustrations. Practice with confidence and overcome your toughest challenges with advice from the top minds in neuropathology.[books.google.de]
  • Individuals with PBD, ZSS usually present during the newborn period or later in childhood. Features during the newborn period include hypotonia, poor feeding, distinctive facial features, seizures, and liver cysts with hepatic dysfunction.[egl-eurofins.com]
  • Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later.[diseaseinfosearch.org]
  • Sensorineural hearing loss may be present. Cryptorchidism and hypospadias (male) and clitoromegaly (female) may occur. CNS function is severely affected and infants have profound psychomotor delay.[orpha.net]
Developmental Delay
  • They include developmental delays, liver dysfunction, episodes of intracranial bleeding, hearing loss, and vision impairments. PBD, ZSS can be slowly progressive. PBD, ZSS is inherited in an autosomal recessive manner.[egl-eurofins.com]
  • CASE REPORT: A 3-year-old boy with neonatal hypotonia, overall developmental delay and failure to thrive and a pattern of hypomyelinating leukodystrophy in brain resonance.[ncbi.nlm.nih.gov]
  • Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities.[rarediseases.info.nih.gov]
  • Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction.[flybase.org]
  • Description PBS-ZSS disorders affect children by causing developmental delays and hearing and visual impairments.[childneurologyfoundation.org]
Poor Feeding
  • Features during the newborn period include hypotonia, poor feeding, distinctive facial features, seizures, and liver cysts with hepatic dysfunction.[egl-eurofins.com]
  • 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]
  • They often show poor feeding. Their livers are usually enlarged and their skin and the whites of their eyes may have a yellowish tinge (jaundice). Some have bleeding in their digestive tract. Abnormally shaped bones are also common.[counsyl.com]
  • The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[my.clevelandclinic.org]
Feeding Difficulties
  • Onset of manifestations is usually in the newborn period or later in childhood and includes hypotonia, seizures, distinctive craniofacial features (flattened facies, large anterior fontanelle, widely split sutures, and broad nasal bridge), feeding difficulties[asperbio.com]
  • Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead[my.clevelandclinic.org]
  • Zellweger syndrome presents in infancy with hypotonia, feeding difficulties, seizures, liver dysfunction, dysmorphic facial features, retinal dystrophy, sensorineural hearing loss, and chondrodysplasia punctata.[invitae.com]
Pathologist
  • The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening.[books.google.de]
  • Diagnosing Zellweger Syndrome The absence of peroxisomes in persons with Zellweger syndrome was initially demonstrated by American pathologist S.L. Goldfischer in the year 1985.[disabled-world.com]
  • Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication[invitae.com]
Liver Dysfunction
  • They include developmental delays, liver dysfunction, episodes of intracranial bleeding, hearing loss, and vision impairments. PBD, ZSS can be slowly progressive. PBD, ZSS is inherited in an autosomal recessive manner.[egl-eurofins.com]
  • Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities.[rarediseases.info.nih.gov]
  • Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction.[flybase.org]
  • Clinical: The clinical course is variable and may include developmental delays, vision impairment, hearing loss, liver dysfunction, episodes of hemorrhage, and intracranial bleeding.[path.upmc.edu]
  • The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment.[genecards.org]
Vascular Disease
  • Make optimal use of the latest approaches for diagnosing fat and air emboli, vascular diseases, trauma, congenital malformations, perinatal diseases and phacomatoses, demyelinating and dysmyelinating disorders, neurodegenerative diseases, infections,[books.google.de]
Visual Impairment
  • Description PBS-ZSS disorders affect children by causing developmental delays and hearing and visual impairments.[childneurologyfoundation.org]
  • Other interventions may include speech therapy for motor dysfunction; occupational and physical therapy; educational support, special programs for the visually impaired; and feedings through a gastrostomis tube.[centogene.com]
Muscle Hypotonia
  • Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; muscle hypotonia; sensorineural hearing loss; visual compromise; seizures; progressive degeneration of the kidneys and the liver.[icd10data.com]
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]
  • Care is usually handled by a team of specialists that may include pediatricians, neurologists, surgeons, audiologists (treat hearing problems), ophthalmologists (treat vision problems), and orthopedists (treat skeletal abnormalities).[my.clevelandclinic.org]
Neonatal Seizures
  • Differential diagnosis The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures[orpha.net]
  • seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes.[genecards.org]
  • Neonatal seizures are frequent. Liver dysfunction may be evident as neonatal jaundice and elevation in liver function tests.[path.upmc.edu]
  • PBD1A is an autosomal recessive systemic disorder characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically[uniprot.org]
Excitement
  • It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.[books.google.de]
  • Excitement or fear amplified these observed clinical presentations. Bilateral symmetric axonal sensorimotor polyneuropathy was determined by electromyography.[omicsonline.org]
Neonatal Hypotonia
  • CASE REPORT: A 3-year-old boy with neonatal hypotonia, overall developmental delay and failure to thrive and a pattern of hypomyelinating leukodystrophy in brain resonance.[ncbi.nlm.nih.gov]

Treatment

  • Treatment typically focuses on the specific signs and symptoms present in each individual. [2] Last updated: 10/16/2017[rarediseases.info.nih.gov]
  • There is no specific treatment for these disorders, and management is supportive.[clinicaltrials.gov]
  • Women who become pregnant during CHOLBAM treatment are encouraged to call 1-844-202-6262. Lactation Endogenous cholic acid is present in human milk.[cholbam.com]
  • Treatment There is currently no cure for the disease and no standard treatment. Treatments that are available can only help with the symptoms—they are not able to strike at the cause.[wmrf.org]
  • Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.[invitae.com]

Prognosis

  • 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 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]
  • What is the prognosis for a person with Peroxisome Biogenesis Disorder Type 6? ZSS usually reduces a person's lifespan. The prognosis for an infant with ZS is poor.[counsyl.com]

Etiology

  • 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 PBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.[orpha.net]
  • Bavinck JNB, Weaver DD (1986): Subclavian artery supply disruption sequence: Hypothesis of vascular etiology for Poland, Klippel-Feil and Mobius anomalies. Am J Med Genet 23:903-918.[docslide.net]

Epidemiology

  • Summary Epidemiology The birth prevalence of PBD-ZSS is estimated to be around 1/50,000 in North America, and around 1/500,000 in Japan. The highest incidence of ZS was reported in the Saguenay-Lac St Jean region of Quebec (around 1/12,000).[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]
  • EPIDEMIOLOGY Frequency: 1: 50.000- 100.000 Sex relation: M:F 1:1 Age: Birth or after birth The birth prevalence of PBD -ZSS is estimated to be around 1/50,000 in North America,and around 1/500,000 in Japan.[flipper.diff.org]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Peroxisomes are organelles present in all human cells except mature erythrocytes.[mayomedicallaboratories.com]
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17:187-196. 3. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. .[cholbam.com]
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17(3):187-96. doi: 10.1002/ddrr.1113.[childneurologyfoundation.org]
  • Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17:187-196. Steinberg SJ, Raymond GV, Braverman NE, Moser AB. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum.[retrophin.com]

Prevention

  • 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]
  • Additional interventions for prevention of chronic lung disease include pulmonary management. Therapies include physical therapy to help preserve range of motion and prevent contractures.[childneurologyfoundation.org]
  • Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome. .[flipper.diff.org]

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