The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is ... The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see 214100.
Shimozawa et al. (1998) described a patient with a peroxisome biogenesis disorder who was the child of nonconsanguineous Caucasian parents. Pregnancy, birth, and milestones during the first postnatal year were normal. After an upper respiratory infection at the ... Shimozawa et al. (1998) described a patient with a peroxisome biogenesis disorder who was the child of nonconsanguineous Caucasian parents. Pregnancy, birth, and milestones during the first postnatal year were normal. After an upper respiratory infection at the age of 16 months he became ill with rapidly progressive hypotonia and muscle weakness leading to severe generalized paresis within 2 months, and gavage feeding became necessary. Loss of hearing and visual decline followed within 6 months of onset. There was no external dysmorphia or hepatosplenomegaly. The patient was given a diagnosis of NALD.
Liu et al. (1999) identified homozygosity for a missense mutation in the PEX13 gene (601789.0002) in the patient with NALD described by Shimozawa et al. (1998).