Symptoma

Infantile Refsum Disease

IRD

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]

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]

  • Poor Growth

    The disorder arises in infancy and results in visual and hearing impairments, decreased muscle tone, poor growth, mental retardation, decreased coordination, liver damage, and abnormal development of facial structures. [encyclopedia.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]

    The patient was a 4-year-old girl with severe hearing and visual impairment, together with failure to thrive. 5 Subsequently, in 2005, the first case of living-donor liver transplantation (LDLT) in a mildly symptomatic 6-month-old infant who was the sibling [pediatrics.aappublications.org]

    […] to thrive and hypocholesterolaemia. [link.springer.com]

  • Gagging

    Clinically the patient had deteriorated neurologically since her last MR imaging study, with worsening of oral motor skills including diminished language, increased drooling, and increased swallowing difficulty with choking and gagging during eating. [ajnr.org]

  • Systolic Murmur

    On physical examination, the skin was pale, there was hepatomegaly, a 2/6 of systolic murmur, and strabismus. There was generalized hypotonia with stereotypic movements such as shaking and bending forward. [ajnr.org]

  • Drooling

    Clinically the patient had deteriorated neurologically since her last MR imaging study, with worsening of oral motor skills including diminished language, increased drooling, and increased swallowing difficulty with choking and gagging during eating. [ajnr.org]

  • Floppy Muscle

    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) and lack of muscle coordination (ataxia), mental and growth retardation, mild abnormalities in the form and structure of the face (dysmorphia), enlargement [sharecare.com]

    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]

  • Loss of Peripheral Vision

    IRD often affects the eyes, causing retinitis pigmentosa, a degeneration of the retina resulting in poor nighttime vision, followed by loss of peripheral vision and eventually loss of central vision late in the course of the disease. [encyclopedia.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]

    Case Reports Patient 1 A 2-year 9-month-old girl with nystagmus, visual and hearing impairment, and developmental delay was evaluated for the possibility of multisystem genetic disorder. [ajnr.org]

    The disorder arises in infancy and results in visual and hearing impairments, decreased muscle tone, poor growth, mental retardation, decreased coordination, liver damage, and abnormal development of facial structures. [encyclopedia.com]

  • Neonate-Onset

    Haas JE, Johnson ES, Farrell DL (1982) Neonatal-onset adrenoleukodystrophy in a girl. Ann Neurol 12:449–457 Google Scholar 14. [link.springer.com]

    These are the most severe Zellweger syndrome (ZS), adrenoleukodystrophy with neonatal onset (N-ALD) and the mildest infantile Refsum disease (IRD). [blueprintgenetics.com]

  • 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]

    Mutations in genes PEX1/2/3/4/6/12/14/26 are responsible for ZS, which has clinical features of severe hypotonia, neonatal seizures, craniofacial dysmorphism such as high forehead and large anterior fontanel, glaucoma, and impaired hearing. [bcm.edu]

  • Meningism

    The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. [ncbi.nlm.nih.gov]

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

  • Liver Biopsy

    We herein demonstrate the histologic and ultrastructural features in liver biopsies in the early and advanced phases from a 16-year-old male with IRD. [ncbi.nlm.nih.gov]

Other treatment is symptomatic and supportive. Patients show variable lifespans with some individuals surviving until adulthood and into old age. [en.wikipedia.org]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Treatment and management There is no cure or standard course of treatment for IRD. Currently, treatment of patients has generally involved only supportive care and symptomatic therapy. [encyclopedia.com]

Prognosis IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond. x Prognosis IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond. [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]

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]

Prognosis For patients with IRD, some success has been achieved with multidisciplinary early intervention, including physical and occupational therapy, hearing aids, alternative communication, nutrition, and support for the parents. [encyclopedia.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]

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]

J Lipid Res 27:786–791 PubMed Google Scholar Braverman NE, D'Agostino MD, Maclean GE (2013) Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives. [link.springer.com]

Until 1963 the pathogenesis and pathophysiology of Refsum disease was not known. [medlink.com]

MacLean, Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives, Developmental Disabilities Research Reviews, 17, 3, (187-196), (2013). [doi.org]

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]

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]

Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. [en.wikipedia.org]

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]