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]

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 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]

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]

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]

Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain [ninds.nih.gov]

Other symptoms may include rapid, jerky eye movements (nystagmus), floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia), mental and growth retardation, mild abnormalities in the form and structure of the face (dysmorphia), enlargement [sharecare.com]

Other symptoms may include: Rapid, jerky eye movements (nystagmus) Floppy muscle tone (hypotonia) Lack of muscle coordination (ataxia) Mental and growth disabilities Abnormal facial features Enlarged liver White matter abnormalities of brain myelin At [blouw.moneomed.com]

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 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]

Haas JE, Johnson ES, Farrell DL (1982) Neonatal-onset adrenoleukodystrophy in a girl. Ann Neurol 12:449–457 Google Scholar 14. [link.springer.com]

These are the most severe Zellweger syndrome (ZS), adrenoleukodystrophy with neonatal onset (N-ALD) and the mildest infantile Refsum disease (IRD). [blueprintgenetics.com]

Differential diagnosis The main differential diagnoses include Usher syndrome I and II, other PBD-ZSS disorders (see these terms), single enzyme defects in peroxisome fatty acid beta-oxidation, and disorders that feature severe hypotonia, neonatal seizures [orpha.net]

Mutations in genes PEX1/2/3/4/6/12/14/26 are responsible for ZS, which has clinical features of severe hypotonia, neonatal seizures, craniofacial dysmorphism such as high forehead and large anterior fontanel, glaucoma, and impaired hearing. [bcm.edu]

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]

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]