Welcome to ally123’s page.
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and explains the flame hemorrhages (Goljan) caused by malignant HTN
FA 2020 pg 301*
The flame hemmorhages are also a good buzz word for recognizing he has hypertensive retinopathy 2e chronic, uncontrolled HTN. Pt's with hypertensive retinopathy can also present with "cotton wool spots" and "macular star". Pics on FA 2019, p. 299
Cholesterol crystals in motor oil
I also just thoughtL: failure to secrete GH = tumor affecting anterior pituitary hormone --> anterior pituitary is derived from Rathke's pouch
"Due to the proximity of the tumor to the hormone-producing cells of the hypothalamus and the pituitary gland, there is significant endocrine dysfunction in most children and adolescents presenting with craniopharyngioma...Among the hormone deficiencies, growth hormone deficiency is the most common and is seen in approximately
75% of children with craniopharyngioma." Source: http://campus.neurochirurgie.fr/Programme_Enseignement/_art1030/endocrinManifest.pdf
As the poster indicates, the described patient has a defect in the urea cycle, specifically an ornithine transcarbamylase deficiency.
Added for clarity to future readers.
For orotic aciduria, From FA 2019 p. 412, "Orotic acidura is inability to convert orotic acid to UMP (de novo pyrimidine synthesis pathway) because of defect in UMP synthase. Aut recessive. Presents in children as failure to thrive, developmental delay, and megaloblastic anemia refractory to folate and B12 (supplementation). NO hyperammonemia (vs. ornithine transcarbamylase def. which as increased orotic acid with hyperammonemia."
Also it's not Carbamoylphosphate synthetase (I) deficiency because there would be only hyperammonemia, increased glutamine and decreased BUN but no orotic acid increase since carbamoyl phosphate isn't getting made and then shunted to pyrimidine synthesis pathway to get acted on by carbamoyl phosphate synthetase II as is the cause of increased orotic acid seen in OTC deficiency.
If there is isolated elevated orotic acid and no urea defects or hyperammonemia then it's Orotic aciduria due to UMP synthase deficiency.
If there if hyperammonemia and orotic acid increase then OTC deficiency.
If there is hyperammonemia with no orotic acid increase then carbamoyl phosphate synthetase I deficiency.
yes !!!!! that make me doubt and choose the wrong one -.-
could have turners and we just dont know it yet or skewed x inactivation.... but thats really really really going down the rabbit hole tbh im glad I didn't notice that when i answered this
how can you differentiate the symptoms of cretinism from Down syndrome?
@whossayin Down Syndrome: upslanting palpebral fissures, atlantoaxial instability, bent little finger, congenital heart disease, displacement of the tongue, excess skin on the back of the neck, flaccid muscles, hearing loss, immune deficiency, low-set ears, mouth breathing, obesity, obstructive sleep apnea, polycythemia, seborrheic dermatitis, single line on palm, thickening of the skin of the palms and soles, thyroid disease, or vision disorder