A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are re...

Here we report a case of central retinal artery occlusion revealing an ischemic cardiomyopathy. A 54-year old smoker man presented at the hospital because of sudden visual loss in his left eye. There was cherry-red spot in the macula in his left eye. We performed a fluorescein angiogram and cervical color Doppler. Later investigations revealed an ischemic cardiomyopathy undiagnosed until then.

THE typical ophthalmoscopic picture of a "cherry-red spot" is only one of the pathognomonic elements of infantile amaurotic idiocy, or Tay-Sachs' lipoidotic ganglioside disease (Danis, Begaux, and Decock, 1957). A similar picture was also observed in Niemann-Pick disease (sphingomyelin lipoidosis disease) in about 60 per cent. of cases (Videbaek, 1949) and even in two cases of Gaucher's cerebro...

tial for posterior dislocation of the donor corneal disc in aphakic eyes must be taken into consideration. Longer-lasting, higher-buoyancy gases (such as SF6) could be used as alternatives to air, but the possible toxic effect to endothelial cells should be elucidated. Correspondence: Dr Yoo, Cornea and External Diseases, Bascom Palmer Eye Institute, 900 NW 17th St, Miami, FL 33136 (syoo@med .m...

Sialidosis is a lysosomal storage disease caused by deficit of neuraminidase. It is an autosomal recessive disease, heterogeneous in its onset, presentation and prognosis. We report a case of a male patient with molecular and enzymatic confirmation of the diagnosis. Symptoms began at age 26 with reduced visual acuity, bilateral cherry-red spots and later myoclonus. A brother, now deceased, had ...

Maulik K, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220912 Description We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth. On exa...

Case presentation: Boy, 4 years old. Born term, cesarean for oligohydramnios, without consanguinity. Mother with hypothyroidism, maternal uncle autism, cousin epilepsy and paternal cerebral palsy. Adequate neuropsychomotor up to 2 of age. At this age, started ataxic gait, refractory epilepsy, spasticity, language loss dysphagia. Multiple hospitalizations due bronchoaspiration pneumonia. Gastros...

Sialidosis, a rare lysosomal storage disorder is caused by a deficiency of the enzyme α-N-acetyl neuraminidase, resulting from mutations in the NEU1 gene. Its main phenotypes are Sialidosis types I (milder form) and II (earlier onset). Sialidosis type II is characterized by developmental delay, macular cherry-red spot, visceromegaly, coarse facies, dysostosis multiplex, and myoclonus. We report...

BACKGROUND Sialidosis is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetyl neuraminidase. The macular cherry-red spot, which could be important for diagnosis, is a distinctive feature of its ocular manifestation. We evaluated the fundus autofluorescence (FAF) and optical coherence tomography (OCT) images of a juvenile patient who presented with vision decrease and ...

A variant designated "cherry-red" is frequently observed in common flue-cured tobacco varieties. This variant has a dappled red coloration of the cured leaf. Cherry-red and red-free selections have been obtained from Nicotiana tabacum, L. cv. 401. Analysis of these selections for alkaloids showed that the cherry-red selection had a much higher nornicotine content than the red-free selection. Co...