Presentation
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]
Unlike typical PBD-ZSS, DNM1L pathogenic variants are reported to result in a lethal presentation in neonates characterized by defects in both mitochondria and peroxisomes. [preventiongenetics.com]
Treatment typically focuses on the specific signs and symptoms present in each individual.[2] Last updated: 10/16/2017 [rarediseases.info.nih.gov]
Entire Body System
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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]
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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]
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Feeding Difficulties
Feeding and nutrition Many children have feeding difficulties. Supplying adequate calorie intake for affected children may entail the placement of a G-tube inserted through the abdomen to deliver nutrients to the stomach. [checkrare.com]
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]
Liver, Gall & Pancreas
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Liver Dysfunction
Additional complications that can develop include adrenal insufficiency, calcium oxalate renal stones and episodes of hemorrhage and intracranial bleeding, the latter secondary to liver dysfunction and coagulopathy. [orpha.net]
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]
Cardiovascular
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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]
Musculoskeletal
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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]
Ears
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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]
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Hearing Impairment
Furthermore, Zellweger syndrome causes hearing impairment, profound mental retardation and developmental delay. Treatment for Zellweger Syndrome The cure for Zellweger syndrome does not exist. [ic.steadyhealth.com]
The syndrome is named for a Dutch eye doctor named Petrus Johannes Waardenburg (1886-1979) who first noticed that people with differently colored eyes often had a hearing impairment. [medicinenet.com]
Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. [genecards.org]
Older children may have visual and hearing impairment. The second category involves mainly bone dysplasias called rhizomelic chondrodysplasia punctata (RCDP) and will not be discussed here. [childneurologyfoundation.org]
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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]
Neurologic
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Neonatal Seizures
Onset of manifestations is usually soon after birth or in childhood and includes neonatal seizures, hypotonia, distinctive craniofacial features (flattened facies, broad nasal bridge, widely split sutures, large anterior fontanelle), liver dysfunction [orpha.net]
seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. [genecards.org]
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Delayed Milestone
Most children with NALD/IRD achieve delayed milestones and may walk independently. Expressive language is less common, but some children have near normal language for age. [cancertherapyadvisor.com]
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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]
Onset
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Neonate-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]
Workup
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]
Treatment
Bone Regarding treatment of bone disease, a recent study has reported successful treatment with bisphosphonate medications in a patient. [checkrare.com]
Treatment typically focuses on the specific signs and symptoms present in each individual.[2] Last updated: 10/16/2017 [rarediseases.info.nih.gov]
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 – ZSD Patients with ZSDs can present a complex range of clinical characteristics that often results in shortened life spans. Treatment – ZSD Unfortunately, there is no way to stop ZSDs from progressing. [checkrare.com]
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]
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 The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. [orpha.net]
Epidemiology
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]
Pathophysiology
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
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]
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]
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]