The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. [ncbi.nlm.nih.gov]

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

Adrenal insufficiency and renal calcium oxalate stones can present in older children. Leukodystrophy with loss of previously acquired skills can occur at any age and may stabilize, or progress and be fatal. [orpha.net]

• Disability

  Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain [ninds.nih.gov]

  Other symptoms may include: Rapid, jerky eye movements (nystagmus) Floppy muscle tone (hypotonia) Lack of muscle coordination (ataxia) Mental and growth disabilities Abnormal facial features Enlarged liver White matter abnormalities of brain myelin At [blouw.moneomed.com]

  Please enable JS and disable any ad blocker [cairn.info]

  These three diseases are known as the Zellweger spectrum, and affected children share a common set of abnormalities and disabilities. There is a great deal of clinical overlap between them, with no hard and fast lines. [home.pacifier.com]

• Intermittent Claudication

  claudication, optic neuropathy, fractures, death during childhood or early adulthood Type 2 milder than type 1 Treatment: Hepatorenal transplantation Hyperoxaluria type 1 (259900) Peroxisomal alanine-glyoxylate aminotransferase AGXT (2q36-q37)* Hyperoxaluria [msdmanuals.com]

• Malingering

  Prasad, Gustavo Malinger and Tally Lerman-Sagie, Primary Disorders of Metabolism and Disturbed Fetal Brain Development, Clinics in Perinatology, 36, 3, (621), (2009). [doi.org]

• Crying

  […] very long-chain fatty acids and pipecolate, elevated trihydroxycholestanoic acid in duodenal aspirate, peroxisomal 3-oxoacyl-CoA thiolase defect Clinical features: Hypotonia, exaggerated startle reflex, facial diplegia, seizures, high-pitched and weak cry [msdmanuals.com]

• Failure to Thrive

  Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. [ncbi.nlm.nih.gov]

  Affected children generally show symptoms from birth such as jaundice, hypotonia, failure to thrive and liver dysfunction. Many children fail to pass their newborn hearing screening. [zellweger.org.uk]

  Failure to thrive is a common characteristic of patients with peroxisomal disorder, along with an enlarged liver, abnormalities in liver enzyme function, and loss of fats in stools (steatorrhea). [healthofchildren.com]

• Ulcer

  […] thrive, postprandial vomiting Treatment: Not established, possible benefit from riboflavin Mevalonic aciduria — — Acatalasemia (115500) Catalase CAT (11p13)* Biochemical profile: Failure of tissue to cause hydrogen peroxide frothing Clinical features: Ulcerating [msdmanuals.com]

• Hearing Impairment

  Hearing aids should be provided to those with hearing impairment and cochlear implants considered when hearing loss is profound. [orpha.net]

  We report the case of a 6-year-old boy who presented with developmental delay, ataxia, hypotonia, areflexia, vision and hearing impairment, dysmorphism, and hepatomegaly. [thieme-connect.com]

  The visual and hearing impairments are less responsive to treatment. [ 11 ] Genetic counselling [ 5 ] Refsum's disease is inherited in an autosomal recessive manner. [patient.info]

  Her hospital stay was complicated by progressive impairment of vision and hearing loss. Her lab values showed elevated levels of phytanic acid. [path.upmc.edu]

• Large Fontanel

  Most children have some degree of facial characteristics such as a broad nasal bridge, low set ears, a large fontanelle (soft spot) and a high forehead (which in our humble opinion makes for incredibly beautiful children!) [zellweger.org.uk]

  Peroxin-1 PEX1 (7q21-q22)* Biochemical profile: Decreased dihydroxyacetone phosphate acyltransferase and plasmalogen; elevated very long-chain fatty acids, phytanic acid, pipecolate, iron, and total iron-binding capacity Clinical features: Growth failure, large [msdmanuals.com]

  The clinical findings of the ZS are dysmorphic features (prominent forehead, hypertelorism, epicanthal folds, flat supraorbital ridges, broad nasal bridge, large fontanelles), neurological abnormalities (hypotonia, decreased sucking, decreased tendon [neuropathology-web.org]

  fontanelle, wide sutures, high forehead, hypertelorism, broad nasal bridge, external ear deformity) to hepatomegaly, as well as renal cysts. [doi.org]

• Myopathic Facies

  […] and pipecolate, elevated trihydroxycholestanoic acid in duodenal aspirate, peroxisomal 3-oxoacyl-CoA thiolase defect Clinical features: Hypotonia, exaggerated startle reflex, facial diplegia, seizures, high-pitched and weak cry, developmental delay, myopathic [msdmanuals.com]

• Spastic Paraplegia

  Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.de]

  paraplegia, impotence, sphincter disturbance, ataxia, dysarthria, adrenal insufficiency, hypogonadism, pontine and cerebellar atrophy Treatment: Adrenal hormone replacement, bone marrow transplantation 4:1 mixture of glyceryl trioleate and glycerol trierucate [msdmanuals.com]

  paraplegia Autoimmune / demyelinating Guillain–Barré syndrome · Chronic inflammatory demyelinating polyneuropathy Other Alcoholic polyneuropathy M: PNS anat ( h / r / t / c / b / l / s / a )/phys( r )/devp/ prot /nttr/nttm/ntrp noco/auto/cong/tumr, sysi [en.academic.ru]

  Addison's disease in association with spastic paraplegia. Br Med J 1: 402. PubMed Google Scholar Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, et al. 2004. [doi.org]

• Neonatal Hypotonia

  264470) Straight-chain peroxisomal acyl-CoA oxidase ACOX (17q25)* Biochemical profile: Elevated plasma very long-chain fatty acids; normal peroxisomal phytanate, pipecolate, dihydroxycholestanoic acid, and trihydroxycholestanoic acid Clinical features: Neonatal [msdmanuals.com]

Additional preoperative workup was performed. Funduscopy revealed retinitis pigmentosa ( Fig 3 ). [pediatrics.aappublications.org]

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

Read More Read Less Treatment Treatment The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. [ninds.nih.gov]

With continued success, we believe that LT may evolve as a feasible option for the treatment of IRD. A prospective evaluation with long-term outcomes may address the ethical concerns and the validity of LDLT as a treatment of IRD. [pediatrics.aappublications.org]

Read More Read Less Prognosis Prognosis IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond. Clinical Trials Clinical Trials [ninds.nih.gov]

Prognosis Great variation is seen with respect to life expectancy, medical complications and preservation of neurological function. Many patients survive childhood, and survival to adulthood is possible. [orpha.net]

What is the prognosis of Refsum disease? Prognosis of Refsum disease varies dramatically. Strict adherence to a dietary regimen (see treatment, below) can cause the neurological symptoms to arrest, and nerve response can improve. [ulf.org]

Prognosis: Unknown. One 9 year old Amish male died of a presumed cardiac arrhythmia. Ancillary treatments and support: None known. Specialists and specialty centers: Nutritionists, neurologists, pediatricians. [wohproject.org]

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]

ETIOLOGY: Refsum's disease is a rare autosomal recessive condition first characterized by Sigvald Refsum in 1945 (1). [path.upmc.edu]

Ichthyosis is an unusual symptom. [14, 15] Etiology Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase ( PHYH ) and the PTS2 receptor ( PEX7 ) genes. This disorder is inherited in an autosomal recessive mode. [emedicine.medscape.com]

Summary Epidemiology The birth prevalence of PBD-ZSS is estimated to be around 1/50,000 in North America and 1/500,000 in Japan. More than ½ of patients with PBD-ZSS have the NALD-IRD forms. [orpha.net]

Epidemiology Frequency Refsum disease is rare, with just 60 cases published worldwide. Race No racial predominance is reported. Sex Only male cases were reported initially; however, now, neither sex predominates. [emedicine.medscape.com]

Infantile Refsum disease has clinical features and a pathophysiology distinct from classic Refsum disease, despite occasionally presenting for examination later in life. [ncbi.nlm.nih.gov]

Although not always the primary cause of disease, mitochondrial dysfunction as a secondary consequence disease of pathophysiology can result in increased ROS generation together with an impairment in cellular energy status. [mdpi.com]

Until 1963 the pathogenesis and pathophysiology of Refsum disease was not known. [medlink.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 Jun. 17(3):187-96. [Medline]. Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin Neurol. 2013. 113:1593-609. [Medline]. [emedicine.medscape.com]

Research is focused on finding better ways to prevent, treat, and ultimately cure disorders such as the PBDs. [ninds.nih.gov]

Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. [blouw.moneomed.com]

Immunofluorescence study of fibroblasts from the patient indicated a mosaic pattern of catalase-positive and -negative particles, and molecular analysis revealed compound heterozygous mutations of PEX6 The failure of medical management to prevent the [ncbi.nlm.nih.gov]

Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders. [books.google.de]