Ocular Lesions Related to Disturbances in Fat Metabolism*

Anderson, Banks; Margolis, George; Lynn, William S.

doi:10.1016/0002-9394(58)90219-8

Cited by 24 publications

(6 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The only two cases similar to our own that we could find in the literature are those described by Anderson, Margolis, and Lynn (1958); these were two sisters, aged 17 and 19 years respectively, who both presented a typical cherry-red spot associated with a hyperkinesia, not classified by the authors, but probably to be considered, from their description, as a myoclonus.…”

Section: Clinical Remarkssupporting

confidence: 66%

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Tittarelli¹,

M²,

Spadetta³

1966

British Journal of Ophthalmology

View full text Add to dashboard Cite

Section: Clinical Remarkssupporting

confidence: 66%

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Tittarelli¹,

M²,

Spadetta³

1966

British Journal of Ophthalmology

View full text Add to dashboard Cite

“…First it was reported by Anderson et al in 2 sisters, ages 16 and 19, manifesting adult-onset myoclonus with bilateral cherry-red spot syndrome [1] and diagnosed with mucolipidosis type I [2]. Titarelli et al further reported a 24-yea-old man with similar symptoms, additionally presenting a visual field impairment.…”

Section: Discussionmentioning

confidence: 99%

Spectral optical coherence tomography in a patient with type I sialidosis

Michalewska¹,

Gajos

Michalewski³

et al. 2011

Med Sci Monit

View full text Add to dashboard Cite

SummaryBackgroundThe aim of our study was to analyze spectral optical coherence tomography (SD-OCT) findings in a patient with clinical signs of sialidosis.Case ReportFluorescein angiography and spectral optical coherence tomography was performed in a 37-year-old woman using a SD-OCT device with axial resolution of 6 μm. Enzyme assay followed. The patient was diagnosed with type I sialidosis by enzymatic assay. Besides a normal angiogram, a thickened nerve fiber layer was observed on spectral optical coherence tomography.ConclusionsThe thickened nerve fiber layer was probably caused by accumulation of metabolic products such as sialylated oligosaccharides and glycopeptides, suggesting that SD- OCT, due to its enhanced resolution, can be a useful tool for diagnosis of rare neurological conditions.

show abstract

“…The EEG consisted of low voltage fast activity with 10-20isec vertex positive spikes that correlated precisely with 10-20isec EMG discharges recorded during the massive myoclonus, while the partial facial myoclonus had no EEG correlate. Of cases resembling the cherry red spot-myoclonus syndrome which we have located in the literature (Symonds, 1954;Glasgow, 1957;Anderson et al, 1958;Tittarelli et al, 1966;Nozu, 1967;Tokuda et al, 1967;Hambert and Petersen, 1970;Guazzi et al, 1968;Goldstein et al, 1974), only Tittarelli et al (1966) definitely noted that the rnyoclonus was bilaterally symmetrical, while the others did not describe it in detail. Hambert and Petersen (1970), Guazzi et al (1968), andGoldstein et al (1974) state that the face was involved in their patients.…”

Section: Classificationmentioning

confidence: 91%

“…Two of the 3 cases described by Tokuda et al (1967) had normal EEGs, as did the patient of Tittarelli et al (1966). Anderson et al (1958) and Hambert and Petersen (1970) described mildly slow EEGs but only the latter noted spikes. The case of Goldstein et al (1974) clearly differed from ours in being photosensitive.…”

Section: Classificationmentioning

confidence: 95%

Electrophysiological Studies in Two Patients with Cherry Red Spot‐Myoclonus Syndrome

1977

View full text Add to dashboard Cite

Two unrelated patients with the cherry red spot--myoclonus syndrome, a rare chronic neuronal storage disorder that begins in childhood with progressive myoclonus, cherry red spots at the macula, and easily controlled seizures, but no dementia, have been investigated electrophysiologically in order to characterize the myoclonic and electroencephalographic features of this syndrome. Phenomenologically, the disease most closely resembles the Ramsay Hunt syndrome, although certain unique features are noted and the patients are not photosensitive. Pathologically and clinically, the disease is related to mucolipidosis type I and atypical cases of GM1 gangliosidosis, and the EEGs obtained from our patients are identical to those seen in mucolipidosis type I. Because of the unusual clinical picture presented in this disease, there should be no difficulty in differentiating it from other more malignant storage disorders and progressive myoclonus epilepsies of childhood. Electrophysiological findings suggest that the myoclonic jerks do not originate cortically, but the specific subcortical generators have not been identified.

show abstract

Ocular Lesions Related to Disturbances in Fat Metabolism*

Cited by 24 publications

References 12 publications

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

Spectral optical coherence tomography in a patient with type I sialidosis

Electrophysiological Studies in Two Patients with Cherry Red Spot‐Myoclonus Syndrome

Contact Info

Product

Resources

About