"Cherry red spot" in a patient with Tay-Sachs disease: case report

Aragão, Ricardo Evangelista Marrocos de; Ramos, Régia Maria Gondim; Pereira, Francisco; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira

doi:10.1590/s0004-27492009000400019

Cited by 12 publications

(10 citation statements)

References 10 publications

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“…Sandhoff disease is an autosomal recessive genetic rare metabolic inherited disorder due to mutations in HEXB genes on chromosome 5q13 and was first described by Konrad Sandhoff in 1968. There are three types of infantile, juvenile and adult hate onset [3]. An enzymatic defect in the disease is related to defects in beta-hexosaminidase enzyme.…”

Section: Discussionmentioning

confidence: 99%

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An Infant with Sandhoff disease: A case report

sabzi¹,

abkari²,

Arefnia³

2021

Clin Case Rep Rev

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The patient is a 13-month-old infant who was brought to this office because of developmental delay by parents. During taking a history the parents acknowledged that they have a familial relationship (cousins). The mother did not have any problems or complications during pregnancy and labor. She did not have a history of miscarriage or stillbirth. The infant was the second child of the family and the

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Section: Discussionmentioning

confidence: 99%

“…It is diagnosed by evaluating hexosaminidase by sending a serum sample to the lab and detecting hexosaminidase A and B deficiency [2]. In this developmental disease, the infant is normal until 4-5 months of age [3].…”

Section: Introductionmentioning

confidence: 99%

An Infant with Sandhoff disease: A case report

sabzi¹,

abkari²,

Arefnia³

2021

Clin Case Rep Rev

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“…Така, оваа цреша-црвена точка е единствениот нормален дел на мрежницата; тоа се појавува во контраст со остатокот од ретината. Микроскопската анализа на ретиналните неврони покажува дека се оддалечени од вишокот на ганглиозид 8 . За разлика од другите заболувања на лизозомалното складирање (Gaucher-овата болест, Niemann-Pickовата болест и Sandhof-овата болест), хепатоспленомегалијата (зголемување на црниот дроб и слезината) не се регистрира кај Tay-Sachs заболување 9 .…”

Section: дискусијаunclassified

Tay Sachs-ова болест -приказ на случај

Isjanovski¹,

Arsovska²

2019

Arch Pub Health

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Tay Sachs-овата болест е ретко нарушување, генетски наследено од родители на дете. Тоа е предизвикано од отсуство на ензим кој помага во разградувањето на масните супстанци. Овие масни супстанции, наречени ганглиозиди, се издигнуваат до токсични нивоа во мозокот на детето и влијаат врз функцијата на нервните клетки. Со напредување болеста, детето губи мускулна контрола. На крајот, доведува до слепило, парализа и смрт.Најчесто новороденчето почнува да покажува симптоми на возраст од околу 6 месеци. Знаци и симптоми на Tay Sachs-овата болест можат да бидат: губење на моторни вештини, губење на способноста за превртување, седење или ползење. Потоа следат напади, губење на слухот и неможност за движење, зголемени реакции кога бебето слуша гласни звуци, губење на видната острина, појава на "Cherry-red" дамки во очите, мускулна слабост

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“…On the other hand, foveal depression, which does not contain ganglion cells, maintains the normal retina's red appearance. 4 It is important to emphasize that cherry-red spot injury is not pathognomonic of Tay-Sachs disease. Some other metabolic disorders in which there are lipid deposits also have the same fundus, such as generalized gangliosidosis, Niemann-Pick disease, and Fabry disease.…”

Section: Introductionmentioning

confidence: 99%

Tay-Sachs disease: case report

Lima

Aragão

Menezes³

et al. 2020

Rev. Med. UFC

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Objectives: Report a case of Tay-Sachs disease. Methods: A complete ophthalmologic examination, retinography and blood dosage of hexosaminidase A (EHA) activity were performed. Results: A one year and seven months old male with a history of generalized tonic-clonic seizures, with delayed neuropsychomotor development from the eighth month of life. At the ophthalmologic examination the patient did not fix or follow objects, with bilateral horizontal nystagmus. The fundoscopy revealed an image of “cherry-red spot” in the macula in both eyes. Dosage of EHA activity confirmed diagnosis of Tay-Sachs disease. Conclusion: Tay-Sachs Disease is a genetic disease with an autosomal recessive inheritance pattern characterized by deficiency of EHA activity, leading to the accumulation of sphingolipids in neuronal cells that results in progressive neurological dysfunction. In the retina, there is deposition in the ganglion cells, resulting in the appearance of cherry-red spot macula. There is no curative treatment, aiming at the therapy, only the clinical support in the patient.

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"Cherry red spot" in a patient with Tay-Sachs disease: case report

Cited by 12 publications

References 10 publications

An Infant with Sandhoff disease: A case report

An Infant with Sandhoff disease: A case report

Tay Sachs-ова болест -приказ на случај

Tay-Sachs disease: case report

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