Distal infantile neuroaxonal dystrophy – a new familial variant with perineuronal argyrophilic bodies

Kyllerman, Mårten; Je, Månsson; Lichtenstein, Meir; Ak, Percy; Nordborg, Claes

doi:10.1007/s004010000358

Cited by 5 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another disease has been described in two children with distal IND and perineural argyrophilic bodies, but no spheroids. 19 It presents with dyskinetic movements, then hypotonia, tonic spasms, seizures, and apneic spells. The neuropathological findings showed silver-stained coarse granules, immunopositive for neurofilament polypeptide, around nerve cell bodies in the cortex and in the basal ganglia.…”

Section: Symptoms and Signsmentioning

confidence: 99%

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Gordon¹

2002

Develop Med Child Neuro

View full text Add to dashboard Cite

Section: Symptoms and Signsmentioning

confidence: 99%

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Gordon¹

2002

Develop Med Child Neuro

View full text Add to dashboard Cite

“…[ 2 3 4 ] Patients with neuro-metabolic disorders might present with seizures, aciduria, developmental delays, and/or ophthalmological abnormalities. [ 5 6 7 8 ] Progressive external ophthalmoplegia has been mentioned as one of the symptoms in mitochondrial disorders (such as Kearns–Sayre syndrome). [ 9 ] Pigmentary degeneration of the retina may be observed in Hallervorden–Spatz syndrome.…”

Section: Introductionmentioning

confidence: 99%

Ophthalmologic findings in patients with neuro-metabolic disorders

Jafari¹,

Golnik²,

Shahriari³

et al. 2018

J Ophthalmic Vis Res

View full text Add to dashboard Cite

Purpose: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. Methods: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. Results: A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination. Conclusion: Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.

show abstract

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Gordon¹

2002

Dev Med Child Neurol

View full text Add to dashboard Cite

Distal infantile neuroaxonal dystrophy – a new familial variant with perineuronal argyrophilic bodies

Cited by 5 publications

References 16 publications

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Ophthalmologic findings in patients with neuro-metabolic disorders

Infantile neuroaxonal dystrophy (Seitelberger's disease)

Contact Info

Product

Resources

About