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Infantile Refsum Disease



  • 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]
  • A 25-year-old woman with a diagnosis of infantile Refsum disease presented with progressively decreasing vision.[ncbi.nlm.nih.gov]
  • This paper presents a case history of a 12-year-old female patient with IRD who underwent dental rehabilitation in the operating room under general anesthesia and includes a 2-year follow-up.[ncbi.nlm.nih.gov]
  • A boy of 3 years and 8 months presented with facial dysmorphism, transaminitis, and psychomotor retardation. Biochemical analysis showed elevated PA and VLCFAs, with reduced PL in the serum.[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]
Respiratory Distress
  • Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive.[en.wikipedia.org]
  • Infections should be guarded against to prevent such complications as pneumonia and respiratory distress.[blouw.moneomed.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 patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features.[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]
  • 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]
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]
  • He is current or past member of numerous scientific and medical advisory boards of national foundations including the Worldwide Education and Awareness for Movement Disorders (WE MOVE), Dystonia Medical Research Foundation, International Tremor Foundation[books.google.de]
  • There is night blindness, progressive (nerve) deafness, loss of sense of smell, unsteady gait, and intention tremor, and there are bladder problems. Other features Atypical retinitis pigmentosa. Progressive concentric restriction of visual fields.[patient.info]
  • 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]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.de]


Small Kidney
  • Patients with Zellweger syndrome also may have small kidney cysts and cranial abnormalities. Read More[britannica.com]
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]
  • Abstract We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle.[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]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.de]
  • 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]


  • 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]


  • 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]
Sex distribution
Age distribution


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

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