Select a Community
Are you sure you want to trigger topic in your Anconeus AI algorithm?
You are done for today with this topic.
Would you like to start learning session with this topic items scheduled for future?
Papilledema
2%
1/59
Arteriovenous nicking
0%
0/59
Cotton wool spots
Hollenhorst plaque
Cherry red spot
93%
55/59
Select Answer to see Preferred Response
The 1-year-old infant has Tay-Sachs (TS) disease as demonstrated by the absence of hexosaminidase A activity. On fundoscopic exam, a cherry red spot will be seen on the macula (Illustration E). TS disease is an autosomal recessive lysosomal-storage disease caused by a deficiency of hexosaminidase A, which metabolizes GM2-ganglioside within lysosomes. Infants typically are healthy for the first few months of life, but as toxic gangliosides accumulate in the neurons, the infant will start exhibiting signs of neurodegeneration. Progressive weakness develops along with the loss of vision and hearing. Affected children also respond strongly to abrupt noises or stimuli, termed a "startle response." The accumulation of the gangliosides in the retinal ganglion cells leads to what appears to be a cherry red spot on the macula. Kaback and Desnick discuss the clinical diagnosis of TS. Beginning between 3-6 months of age, infants experience progressive weakness, decreased attentiveness, and a startle response. Infants presents with similar symptoms as Niemann-Pick disease, except they present without hepatosplenomegaly. The progressive neurodegeneration ensues, followed by seizures, loss of vision and hearing, and spasticity ending with death before the age of 4. Kaback and Desnick also discuss the three types of TS. Acute infantile is the first as mentioned previously. Juvenile TS has a later onset with death occurring later in childhood/adolescence. An adult onset variation also can occur, presenting with "progressive dystonia, spinocerebellar degeneration, motor neuron disease with muscle weakness and fasciculations, and/or psychosis." Illustration A (Answer 1) shows papilledema; the optic disk is swollen due to increased intracranial pressure. Illustration B (Answer 2) shows AV nicking, where chronic hypertension causes the artery to compress the vein. Illustration C (Answer 3) shows fluffy white cotton wool spots of diabetes caused by retinal nerve fiber microinfarcts. Illustration D (Answer 4) shows a Hollenhorst plaque, a cholesterol embolus in a retinal blood vessel. Illustration E (Answer 5) demonstrates the cherry red spot on the macula. Incorrect Answers: Answer 1-4: See above for explanations.
4.5
(21)
Please Login to add comment