Peroxisomal Disorders: Experience from a Genetic Center in North India

Suresh Kumar Angurana; Renu Suthar; Inusha Panigrahi

doi:10.1055/s-0038-1641581

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2019; 17(02): 065-070
DOI: 10.1055/s-0038-1641581

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Peroxisomal Disorders: Experience from a Genetic Center in North India

Authors

Suresh Kumar Angurana

¹Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Renu Suthar

¹Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Inusha Panigrahi

²Genetics and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Abstract

Diagnosis of peroxisomal disorders (PDs) is often delayed because of unfamiliarity with the characteristic features of PDs and their genetic heterogeneity. Aim of this study was to describe clinical profiles of six children with PDs. This is a retrospective study involving six children with PDs. The patients included three males, one female, and a fetus. Three patients were diagnosed with Zellweger's syndrome, two with rhizomelic chondrodysplasia punctata, and one with X-linked adrenoleukodystrophy. These diagnoses were established based on clinical, radiological, and biochemical features (elevated very long chain fatty acids levels). Parents of all cases have been provided genetic counseling and advised of prenatal diagnosis. Diagnosis of PDs requires knowledge of characteristic clinicoradiological features, and clinical confirmation is possible with simple imaging and biochemical investigations. Molecular diagnosis is possible for selected cases.

Keywords

dysmorphism - peroxisomes - growth failure - epiphyseal stippling

Full Text

References

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