Medical–dental findings and management of a child with infantile Refsum disease: a case report

Acharya, Bhavini S; Ritwik, Priyanshi; Velasquez, Gisela M; Fenton, Sanford J.

doi:10.1111/j.1754-4505.2012.00248.x

Cited by 10 publications

(8 citation statements)

References 5 publications

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“… 38,39 Indeed, SNHL is a common feature of PBDs, and tooth and nail abnormalities have been described in PBD-affected individuals with prolonged survival, but always in association with additional and more severe features. 40–44 Importantly, in contrast to individuals with PBDs at the severe end of the clinical spectrum, the individuals with HS showed no identifiable dysmorphic or additional neurological features. Other evidence of clinical effect due to peroxisome dysfunction was not investigated, given that there was no clinical indication.…”

Section: Discussionmentioning

confidence: 99%

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ratbi

Falkenberg

Sommen

et al. 2015

The American Journal of Human Genetics

102

115

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Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them. Loss-of-function mutations in both genes are known causes of a spectrum of autosomal-recessive peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome. PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial, and liver abnormalities. We demonstrate that each HS-affected family has at least one hypomorphic allele that results in extremely mild peroxisomal dysfunction. Although individuals with HS share some subtle clinical features found in PBDs, the diagnosis was not suggested by routine blood and skin fibroblast analyses used to detect PBDs. In conclusion, our findings define HS as a mild PBD, expanding the pleiotropy of mutations in PEX1 and PEX6.

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Section: Discussionmentioning

confidence: 99%

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ratbi

Falkenberg

Sommen

et al. 2015

The American Journal of Human Genetics

102

115

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“…Many children with PBD-ZSD have enamel abnormalities of permanent teeth and should receive appropriate dental care [73–75]. …”

Section: Management and Treatment Guidelinesmentioning

confidence: 99%

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Braverman

Raymond

Rizzo

et al. 2016

Molecular Genetics and Metabolism

207

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Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a heterogeneous group of genetic disorders caused by mutations in PEX genes responsible for normal peroxisome assembly and functions. As a result of impaired peroxisomal activities, individuals with PBD-ZSD can manifest a complex spectrum of clinical phenotypes that typically result in shortened life spans. The extreme variability in disease manifestation ranging from onset of profound neurologic symptoms in newborns to progressive degenerative disease in adults presents practical challenges in disease diagnosis and medical management. Recent advances in biochemical methods for newborn screening and genetic testing have provided unprecedented opportunities for identifying patients at the earliest possible time and defining the molecular bases for their diseases. Here, we provide an overview of current clinical approaches for the diagnosis of PBD-ZSD and provide broad guidelines for the treatment of disease in its wide variety of forms. Although we anticipate future progress in the development of more effective targeted interventions, the current guidelines are meant to provide a starting point for the management of these complex conditions in the context of personalized health care.

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“…Hearing and visual impairment should be (partly) corrected by hearing aids and glasses, with ophthalmologic and audiological evaluations yearly. Enamel hypoplasia, present in nearly all patients, should be followed-up by a dentist [ 62 , 63 ]. Some patients will need a gastrostomy to provide adequate intake of calories.…”

Section: Clinical Management and Treatmentmentioning

confidence: 99%

Zellweger spectrum disorders: clinical overview and management approach

Klouwer

Berendse

Ferdinandusse

et al. 2015

Orphanet J Rare Dis

177

186

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Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.

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Medical–dental findings and management of a child with infantile Refsum disease: a case report

Cited by 10 publications

References 5 publications

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Zellweger spectrum disorders: clinical overview and management approach

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