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Paediatric Neurology
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
The classical example of a generalized disturbance of peroxisomal activity is Zellweger’s syndrome; that of a single enzyme defect, X-linked adreno-leukodystrophy (ALD). In Zellweger’s syndrome, there is striking craniofacial dysmorphism with a large fontanelle and high forehead. Infants are profoundly hypotonic and inactive at birth. Neonatal seizures are common and there is visual failure with a pigmentary retinopathy, cataracts and sometimes glaucoma, auditory impairment, hepatomegaly, renal cysts and calcific stippling of the epiphyses best seen at the patellae. Imaging and neuropathology reveal extensive neuronal migrational abnormalities and death occurs in the first year of life. Milder variants include infantile Refsum’s and neonatal adrenoleukodystrophy (ALD).
Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations
Published in Ophthalmic Genetics, 2018
Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F. Inglehearn, Alex V. Levin
The discovery that hypomorphic PEX1 and PEX6 mutations cause Heimler syndrome (2,5) identifies the condition as a peroxisomal disorder. One study suggests that mutations in PEX1 are more common (2) while another found PEX6 mutations to be more common (5). Other peroxisomal disorders include Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and chondrodysplasia punctata. Mutations in PEX1 and PEX6 may also result in a form of Zellweger syndrome, which is characterized by craniofacial abnormalities, neurologic dysfunction, and liver dysfunction (10,11). Ocular manifestations were not specifically described. In other forms of Zellweger syndrome, some of which were not molecularly defined, ocular findings include nystagmus, cloudy corneas, glaucoma, cataract, retinal dystrophy with extinguished ERG, macular intraretinal cystoid spaces, and optic atrophy (10,12–18). Our patients, and those reported by Ratbi and Lima, had a milder form of retinal dystrophy compared to other patients with Zellweger syndrome.
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
The peroxisomal biosynthesis disorders, are an umbrella term for a spectrum of disorders ranging from the severe Zellweger syndrome, intermediate neonatal adrenoleukodystrophy and mild Infantile Refsum disease [144]. These are recessively inherited disorders caused by mutations in the PEX genes, and there are rare reports of antenatal hydrops presentation in addition to varied, nonspecific, dysmorphism [140,145].
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)
Published in Ultrastructural Pathology, 2018
Mikako Warren, Gary Mierau, Eric P. Wartchow, Hiroyuki Shimada, Shoji Yano
ZSD were traditionally classified based on their clinical and biochemical features into the following diseases: severe phenotype (Zellweger syndrome: ZS, MIM# 214100),8 intermediate phenotype (neonatal adrenoleukodystrophy: NALD, MIM# 202370), and mild phenotype (infantile Refsum disease: IRD, MIM# 266510). However, they are now thought to be a continuum of the same disorder.9