DIP Episode 17 - Diseases of The Pediatric Population Part 1

Welcome. My name is Divine. I am a fourth year medical student. You're welcome to a 17th episode of the Divine Intervention Podcasts. And in today's episode I'm going to be discussing a series of diseases that are super super high-yout for step one, for step two CK, most likely for step three, and also for the pediatric shelf. And the topic today are the diseases of the pediatric population. This will be the first part. I will talk about other diseases in later podcasts. So let's go ahead and get started. So the first question says a seven-year-old Asian male with chronic watery diarrhea and blotin. Stool is positive for reducing sugars, a hydrogen breath test is positive. So what's the diagnosis and how is this treated? So if you notice I mentioned an Asian in this question, as the first thing I mentioned, and then I mentioned having like diarrhea and blotin, okay, and you see reducing sugars in the stool. Hopefully this should get you thinking about lactose intolerance, okay. So the path of physiology here involves a lactase deficiency. Remember lactase is a brush border enzyme. It's a kind of dysaccharidease if you may, okay, because on these board exams you may not see them refer to the deficiency as a lactase deficiency. They may write dysaccharidease enzyme deficiency or brush border enzyme deficiency. So watch out for that, okay. And one of the ways you can diagnose this is to do a hydrogen breath test.

It's usually positive because the acidity, the lactic acid that's hanging around in your GI tract, right, it can be reflected, it can be reflected in your breath, so it can be detected in that way. Another thing to do is you can also just check the stool look for reducing sugars, although that's probably a less sensitive test. Or, you know, I guess a less specific test. Now, how do you treat this? You treat this by basically avoiding things that contain lactose, okay, so like dairy products, you could also give lactase supplements. Although, if it's an infant, and let's, as you know, the infant is, oh, you like, oh, you need to breastfeed or formula feed this infant. One, you know, no questions from the exam, you actually be to go ahead and give soy based formula, okay. So just watch out for that. So let's go on to the next question. Now, 23 months old is brought to the pediatrician by his mom. Physical exam is notable for pronounced boin in the low extremities. MCV 60.low serum calcium is 7.1 that's low as well. He has an erythematous blisterin rash in front of both patelli. There is diffuse mossohystin, what's your diagnosis? What's the diagnostic test in? How is this treated? And let's assume this patient has an anaphylactic reaction to blood transfusions. So what are we talking about here? This version looks kind of non-specific, but it's a very classic exam presentation.

Right, so this kid has a micro-city canemia, so potentially from iron deficiency, this kid has hypocalcemia that's like low calcium, and the kid has rickets. Right, so that tells you this kid has a vitamin D deficiency. And if you're thinking about it, there's also this rash on extensor surfaces of the extremities. Hopefully, that should also get you thinking about something else, okay? So this is a malabsorbative problem with a rash. If you see malabsorb shown plus rash, I really hope you're thinking about celiac disease, okay? So this child does in fact have celiac disease. It causes malabsorption and it causes multiple vitamin deficiencies, right? So like you have like a vitamin D deficiency of folic acid deficiency and iron deficiency. That's why the kid has all those problems. The vitamin D deficiency creates the rickets, the iron deficiency creates the micro-city canemia, okay? And the classic exam presentation is that this kid's may have like muscle wasting, they'll have like flood buttocks, they'll have anemia, they'll have rickets again all from these are vitamin deficiencies and like the muscle wasting. And the rash that is classically described, hopefully you remember that this is a dermatitis, a pretty formist, okay? It's like a herpes-like rash on the extensor surfaces. And really the way you make the diagnosis is you do like a serum study where you try to find IgA against tissue transglotaminase, okay?

Although for some reason there's actually a pretty strong association between celiac disease and IgA deficiency. So if a kid is IgA deficient, that Ig against tissue transglotaminase test may be negative, right? So what you could do in that case is to check for IgG antibodies against gliadine, okay? So that's something high you do want to know. Another thing you may also want to do is you may want to do like a doodinol biopsy and on that biopsy the classic exam description of your findings are that you have atrophy of the microv-line, okay? So like villas atrophy and they'll tell you that oh there is an increase in the number of lymphocytes between the epithelial cells that line the doodinum. If you see that specific association, basically stop reading the question, the answer to that is celiac disease. And these kids, if they have like IgA deficiency, they don't have Ig as being Ig, if they have an IgA deficiency, IgA sort of becomes foreign particle to them. So they may actually form antibodies against those that IgA and those and those Ig antibodies can dock on the surface of an eocenophil or mast cell and then when they get a blood transfusion that contains IgA, that IgA can bind to that Ig on the surface of a mast cell or eocenophil, cross-cross linking of the constant regions of the IgE and then you have the granulation of those cells and then you get into a lot of problems, okay? So those kids can get a type 1 hypersensitivity reaction with blood transfusion, right?

So IgA deficiency and a phylactic reaction to blood products. And really the way you treat celiac disease is you just avoid gluten in the diet, right? So like foods like wheat or barley or rye, you generally want to avoid those because they contain gluten, rice does not contain gluten, at least most rice. And you also want to supplement the vitamins that they are missing, right? So like vitamin D to sort of stave off the rickets or iron to sort of stave off anemia, okay? And this will probably be more of an adult question, but in addition to removing gluten from the diet, you could actually treat dermatitis herpathy form as with a dapzone, okay? I remember that dapzone is a dihydroptorate synthetase inhibitor. That's one of the steps in the synthesis of folic acid and bacteria. You remember you want to be careful with that drug because it causes a lot of oxidative damage, right? So you want to be careful with that in patients with a G6 pd deficiency because they cannot make any dph, okay? So that's it for that question. So let's go into the next one. So an eight month old that consumes cow milk presents with, is broth, sorry, made a type of there. I'll just correct that right now. Okay? So eight month old that consumes cow milk is brought to the pediatrician by his mom. After noticing blood in his stool last week, CBC is notable for anemia, what's your diagnosis, what's your treatment?

This is more of a question you just want to be able to recognize on an exam, but this is a classic presentation of a milk protein allergy, okay? Basically it's an intolerance to milk proteins, okay? Usually it's Ig mediated, but it could also be meditated by other antibodies. Mosquites I'll grow this like after the age of one, Mosquites I'll grow this, but the treatment is to give them a formula that contains something known as casein hydrolycate, okay? That's just a buzzword you want to remember for example, a casein C-A-S-E-I-N hydrolycate formula. That was easy. Well, I don't guess if you could recognize it. Okay, so next question. A five-year-old kid with chronic constipation, immigrated from South America the age of one, ding-ding-ding, erectile exam is accompanied by an explosive expulsion of poop, a distal colon biopsy reveals an absence of albax plexus, what's a diagnosis? There are other patient populations that may have a similar condition and how is how's this treated? Okay, how's this treated? So this hopefully realized that this is Hirschsprung's disease, okay? Hirschsprung's disease in general, the pathophysiology at least for congenital Hirschsprung's disease is that you have a failure of neurocress cell migration to the distal colon, okay? Alternatively, you could also have like some bug that mediates destruction of your enteric nervous system, right? Like your albax plexus, for example, the classic bug here is tripanosomal cruziac, right?

That's why I put that this kid immigrated from South America. So let's assume this kid had tripanosomal cruziac infection of the GI tract and the nooks, the albax plexi, and then basically they have a Hirschsprung's disease. The other patient population that classically has this issue on exams, Down Syndrome patients, okay? So remember you're tri-somy 21. And so T-chroziar will be a cause of acquired Hirschsprung's disease, and basically the way you treat this is you resect the affected bowel and then you perform some kind of end-to-end anaestomosis. In general, you establish the diagnosis with a biopsy like a like a punch biopsy of the distal colon. Okay? So next question. 18 months old with a recent history of an upper respiratory infection is brought to the ED by his mom. He has been having paroxysms of abdominal pain that have made him curl into a ball. Oh no, his mom brings his most recent diapers to the office with some of them having a red tinge. Okay? A mass is pulpitated in the right lower quadrant of the abdomen. What's the diagnosis? How is this diagnosis established? How do you treat this and what's the actual pathophysiology? So this kid, right? So the red tinge, right? So you're hopefully thinking of a red-current jelly stool. Okay? This is into a perception. Okay? The classic exam presentation or associations are like a palpable mass.

Usually in the right lower quadrant, they will have like red coronjelly stools because the bowel is becoming necrotic and they will also have abdominal pain. And just as a quicker sight, what is the bug that is associated with red-corangely sputum? Are you saying Klebsiela pneumoniae? Alcoholic? Well, I hope you're saying that. That's a very high-yield micro-association you want to know for your board exams. Now, the pathophysiology of innitus deception is basically you have the telescoping of one piece of bowel into another. And that telescoping can basically drag blood vessels of the GI tract alongside and can occlude them sort of like a pressure occlusion if you may. And that pressure occlusion can cause ischemia and the process of the bowel if it's not corrected quickly. And usually the thing that causes that telescoping is there is a lead point that that begins the whole process. That lead point for the telescoping could be like a mechols diverticulum. I'll talk about that in a little podcast. It could be a hyperpleasure of the pyrospatches. Remember, that's found in the in the Ilium. Okay? In the terminal Ilium. So that's one thing you want to think about. And in general, the diagnosis is usually pretty obvious, but if you want to do some kind of imaging you can get an ultrasound and classically an ultrasound. You'll see like a donut shape occasionally calling the target sign. Okay?

So if you see an exam question, do not shape an ultrasound or target sign, think of intersusception. Another thing you would actually use for diagnosis, which is also therapeutic, is an air enema, right? So you basically like use a hydraulic force to sort of reduce the intersusception. And it probably reduces the intersusception in like 75% of cases. If that doesn't work obviously you go to surgery. And just as a quick, quick, quick addendum, what if what should you think about if this kid after an air enema becomes like septic, has like constant severe abdominal pain? I really hope you're thinking of an abdominal perforation, right? Because again, if you're blowing gas into a hollow viscous, imagine you could potentially perforate that viscous and get into a lot of trouble, right? In general, for that you probably want to do like an abdominal x-ray, you see free air on the diaphragm, right? That's like the classic thing you see. And basically for that, you need to give that kid broad spectrum antibiotics and just ship them to the OR because he has a pretty higher mortality rate. Okay? So next question. So four year old presents with severe generalized abdominal pain, nausea and vomiting. They started 12 hours ago. CBC is notable for a white count of 13,000 which is high. Ultra sound reveals an ecogenic material in the right lower quadrant with what appears to be fat stranded. So right lower quadrant fat stranded. So what's your diagnosis? How is this treated?

And what are the potential complications? Okay? So this, this is kind of, I kind of wrote this question to sort of throw you off a little, but this is actually appendicitis. We're used to the period on billiacal pain, radiating to to thirds the distance between the ombalicus and the anterior superior iliac spine, right? That's the classic appendicitis presentation in adults. But in actually in the pediatric population appendicitis tends to present as just generalized abdominal pain. Okay? So just something to watch out for. That's why I added some extra for you with regards to the ultrasound findings. Okay? And that sort of leads into the point that in general, the imaging test of choice for appendicitis in the pediatric population is an ultrasound because you want to shield the kits from the radiation that accompanies the CT scan, which is classically done in adults. Okay? Basically, the ecogenic material that we saw an ultrasound in this question was probably like a fickle that obstructed the appendix caused inflammation and then the kid had this problem. And in general, the way you treat this is you just hydrate the kid, give them broad spectrum antibiotics, that list that covers your GI flora like Ceprofloxacin, which is a fluoroquinolone and metronidazole or a combination of ampicillin, gentamysin. And remember gentamysin is an amino glycoside and metronidazole. Okay? And then you send them to the OR for lab coli, right? Laproscopic colisestectin.

And certain complications that could arise, especially in the pediatric population is you could form an abscess, okay? Or the appendix could actually pepper it. And those are obviously worse conditions than a garden variety up in the site. And yeah, so I think I've talked about all I want to talk about with this question. So let's jump to the next one. Okay? Now the classically tested genetic principle. Okay? The this question is extremely, extremely, extremely high for step one. So basically, I'm just supplying the names of certain disorders and then you tell me the genetic principle that's classically tested on exams. Okay? So the first group, we have a myotonic dystrophy and fragile X syndrome. Myotonic dystrophy and fragile X syndrome. Hopefully you know these to be try nucleothide repeats disorders. Okay? And I will talk about some of them in this podcast and in the later podcast. But remember that in fragile X syndrome, you have the CGG repeats. It's an X-link disorder. And for myotonic dystrophy, you have the CTG repeats. Okay? Now next group, Angolan syndrome, Prader release syndrome and Beckwith Witham syndrome. Okay? The key concepts that are tested for those are genomic imprinting with chromosome deletions. And then the second concept is a uniparental dystomy. I will talk about these concepts later, but as a preview of common attractions. Remember that genomic imprinting just means that one of your chromosomes, either from mom or dad is silenced. Okay?

I will talk about the pathophysiology behind Prader-Willian ingo-men in a later slide. But for uniparental dystomy, it just means that you inherit two copies of a gene from the same parent. Okay? So it's like you're inheriting like both maternal chromosome 15s or both paternal chromosome 15s. Instead of inheriting a paternal chromosome 15 and the maternal chromosome 15, we'll talk about the implications of this in a bit. Okay? Now next one is trisomy 21, right? So that's a down syndrome. So this classically arises from one of two things on exams, right? So it could be from a translocation. Usually it's an unbalanced rubrician translocation. I'll talk about that later. It could also arise from maternal non-disjunction. Okay? A maternal non-disjunction. Remember maternal non-disjunction occurs when the homologous chromosomes do not separate in myus S1 or where the sister chromatists do not separate in myus S2 or where the sister chromatists do not separate in mytosis. Okay? Those are all causes of those are all like pathophysiological mechanisms behind maternal non-disjunction and that can present with a down syndrome. Okay? I'll talk about down syndrome shortly. Now next part says mom passing a disease to all her kids. So mom passing a disease to all her kids. Hopefully you're thinking of some kind of mitochondrial disorder. Okay? Mitochondrial disorders. They're usually like super weird. They tend to have like super weird names like melacendrom.

I think melacendrom is like mitochondrial and cephalopathy, lactic acidosis and stroke-like episodes. There's one called M-E-R-R-F. There's one called a le syndrome, leigh. But I would just say that one big thing. In fact, there's another one actually that shows up on exams every now and then. It's like L-H-O-N. It's like leber, hereditary, optica, neuropathy. The big thing you want to remember with these mitochondrial disorders is that mom passes it on to all her kids. That can pass it on to his kids because all the mitochondria you have in your cells come from mom. That's one too. These conditions are classically associated with like visual problems. That's one. Usually it's like some kind of optic atrophy. And then another thing is they may describe muscle biopsy that shows ragged red fibers. If you see that buzzword, you really want to think about some kind of mitochondrial disorder. Now, the final thing here is just a quick aside on the bacterial association. It's just something you need to memorize. It's just a cluster of findings that tend to shrub together in a kid, at least most or all of them. And the V stands for vertebral anomalies. The A stands for anal atrizia. The C stands for cardiac defects, many different kinds of cardiac defects. The T stands for T-E fistula, usually that shows up with an esophageal atrizia. The R stands for renal defect. And then the L stands for limb defect. That's the bacterial association.

The temporal anomalies in a latrizia, cardiac defects, T-E fistula, classically with an esophageal atrizia. Renal problems and limb defects. Now, let's jump on to the next question. Down syndrome. Down syndrome, there are many things I'm going to talk about here. You probably should not walk into any board exam without knowing as much as possible about Down syndrome. So I'm going to talk about the genetic pathophysiology. I'll talk about the early onset neurological disorder they could have. The classic hematologic malignancy that shows up in Downs. We'll talk about some considerations before you begin sports. If a person has Down syndrome, we'll talk about the hand findings, we'll talk about the cardiac defects, we'll talk about the GID defects. Hopefully as I'm really in this out, you already begin to like mull over the potential answers to these questions. We'll talk about the quad-screen findings from Mum. From the amniotic fluid, we'll talk about the chromosomes found in a robot sonyan translocation carrier. Classically, those people don't have Down syndrome and then we'll talk about the number of chromosomes found in a patient with Down syndrome from a robot sonyan translocation. We'll talk about the pathophysiology behind that. That's all I'm going to talk about. Now let's talk about it one by one. After this, you'll feel like an expert on Down syndrome. Basically, how does Down syndrome arise? Down syndrome is trisomy 21.

It arises through two mechanisms you probably want to worry about for exams. It could arise from a journal non-disjunction. I've talked about the different combinations for that. Where you don't have appropriate separation of homologous chromosomes in meiosis one or appropriate separation of sister chromatids in meiosis two or mitosis. Then another mechanism is the robot sonyan translocation. I'll talk about that in a bit. The classic neurological disorder these people get is early onset Alzheimer's. They actually have three copies of chromosome 21. Remember that chromosome 21 encodes a gene product known as a precynylene one. Precylene one actually gives rise to certain subunits of the amyloidabeta protein that classically accumulates in the brain in patients with Alzheimer's. Now with regards to a hematologic malignancy, these kids tend to get ALL. Remember ALL classically on exams shows up in kids that are less than seven to ten years old. Remember that ALL is TDD positive. Terminal deoxinucleotidotransferies. One numonic that you learn from some reviewer sources as you're studying for your broad exams is all fall down. All ALL fall down. Down syndrome. That's one easy way to remember that. Now before kids with Down syndrome start sports, one thing you actually want to do is to get like a cervical slash neck x-ray. Because the thing is many kids with Down syndrome have something known as Atlantial axial instability.

That can cause very serious life threatening, permanent spinal cord problems. You want to make sure they don't have Atlantial axial subloxiation instability before you let them begin sports. Another classic patient population that tends to also have a similar warning. People that have had like long standing rheumatoid arthritis. Before those people have surgery where you have to like manipulate their neck and all that stuff, you want to get some kind of cervical neck x-ray to roll out Atlantial axial subloxiation. Okay. Now the classic hand finding in herch prog. So like the single parma crease, some facial findings. I guess I didn't put this on the slide, but some facial findings. They may have like the the papi brofisures, the epicanthal folds, the low set ears, the small head. So just sort of things to keep in mind there. Okay. With regards to cardiac problems, they tend to have endocardial cushion defect. Right. So like AV canal, your itchroventricular canal defect. Okay. Because remember that those endocardial cushions are derived from neurocrest. And really if you dog deeper and you spend time studying Downs syndrome, you'll see that most of the problems in Downs are just from neurocrest cell migration deficits. Okay. So that's what explains the disparate findings like the the problems they have with endocardial cushions, the problems they have with herch prog disease. These are all neurocrest cell migration problems. Okay. With regards to GI problems, right.

So they could have herch prog. We've talked about that. They could have doodinal atreasia. Right. So if you see an abdominal x-ray on your step one exam, where you see a double bubble sign. Okay. The first part of the bubble is the stomach up until the pyloric sphincter. And then the second part of the bubble is the part of the duodenum that's proximal to the atretic duodenosegment. Okay. That's your double bubble. If you see that think of Downs syndrome, think of the ordinary atreasia. And the ordinary atreasia right classically presents with bilios vomitting contrast that with pyloric stenosis where you tend to have non bilios vomitting. Right. And pyloric stenosis usually shows up within the first eight weeks of life on exams. Right. And remember like the what is it called like the the it's like a mass you palpate all of shaped mass peristolic waves on abdominal exam in a young kid that's usually like a firstborn male or was exposed to a rethromycin for some kind of early life infection. Okay. Those are all high odorous factors. Okay. So that's one way to sort of differentiate pyloric stenosis from the ordinary atreasia. But the ordinary atreasia, herch prog disease, classic GI findings in Downs syndrome. Okay. So. So let's talk about robot sony and translocations. Okay. Because they are very confusing right. And since it's confusing, it's like very nice exam for her.

So in a robot sony and translocation, the thing that happens is the first thing that happens is it all starts with an acrocentric chromosome. So what does that big word mean? Acrocentric chromosome. And acrocentric chromosome is basically a chromosome that is I sort of think of it as a chromosome that is not equally divided. Okay. So it has like one centromere, right. But there's like a very short arm of the chromosome that has very little genetic material. And then there's a long arm of the chromosome that has a ton of genetic material. Okay. That's an acrocentric chromosome. So because things are not balanced, I sort of think of it as a sea saw that is not well balanced around the centromere. If that chromosome breaks at the centromere and the long arm goes off to its own place, the short arm goes off to its own place. And that long arm joins up with another chromosome, say like chromosome 14, for example. Okay. You just had some that process basically is what defines a robot sony and translocation. Okay. So you've basically destroyed one chromosome. But you've taken like all the high-eogenetic information on the long arm and placed it on another chromosome. Okay. So these people will basically have 45 chromosomes instead of the regular 46. Because you've basically like trashed one chromosome, taking most of its material and just added it onto another chromosome. Okay. So those people have 45 chromosomes.

But in general, people that have that kind of robot sony and translocation have no problem said, oh, yes, they have 45 chromosomes, but they have a silent phenotype. And the reasoning behind that is they basically have two copies of all the genetic information that they need. Okay. So that is how a robot sony and translocation work. So that's the case that will obtain in a career. A career will have 45 chromosomes. Now, how can bad things happen? Right. So bad things can happen when you have something known as an unbalanced robot sony and translocation. Okay. And in a non-balanced robot sony and translocation, you can have a person can have Down syndrome from that. And those kids tend to those kids have 46 chromosomes. Okay. 46 chromosomes. So how does that work? Well, the thing is in the process of myosis, right. The robot sony and translocation careers, right. So let's assume the trash chromosome 21 took the long arm, put it on chromosome 14. In the process of meiosis, right, the career of the robot sony and translocation can basically pass on the singular chromosome 14 that's a threaded to the broken off long arm of chromosome 21. And the regular chromosome 21 that they have, because remember, everyone has two copies of chromosome 21. So let's assume in the gamut, right, like the sperm of the egg, be passed on the chromosome 14 that is threaded to the long arm of chromosome 21. And then they also pass on a regular chromosome 21.

When that gamut meets with another gamut that has like one single chromosome 21 and they fuse to form a zygote, you basically form a fetus that has three copies of chromosome 21. Right. So they have one copy from one gamut, the normal gamut, they have one copy from the abnormal gamut and then they have the third copy that is threaded to chromosome 14. So they have a trisomy 21 so they can present with Down syndrome. But with maternal non-disjunction in Down syndrome, right, instead of having 46 chromosomes, you have 47 chromosomes, you have like a legit extra chromosome 21. So if you get an MBME exam question that describes Down syndrome findings and they're like, wait, this person has 46 chromosomes. You really want to think about an unbalanced, robust sonial translocation as the underlying pathophysiology. Very, very high you'll understand this whole Down syndrome business. So let's, and before we jump to the next slide, if you perform a quad screen on maternal amniotic fluid, I mean on amniotic fluid, in Down syndrome, you'll have high levels of beta HCG and in Heben, okay, and then you'll have low alpha-phido protein and estriol, okay. And one easy way to remember the things that are high is just remember the word high, HIG, H, right, H and I in high, okay, the H for HCG, the I for in Heben A, okay, very easy nomonic to remember that. Okay, so let's jump up to the next question. The next question says what is your diagnosis?

Just contract, comparing and contrasting to the soldiers, okay. These are very easy points on an exam if you can recognize them, okay. So the first one is a prominent occipital overlapping digits, clenched fists, and rocker bottom feet, okay. Hopefully you know these to be findings of, of Edward syndrome that's trisomy 18, okay. And then for the second one, it says rocker bottom feet, but the presentation here is clef lip and palate and polydactyl erectile like multiple digits. If you see this, think more about patosendrum, okay, trisomy 13, okay. So remember, overlapping digits, clenched fists, prominent occipital, that's more Edward syndrome trisomy 18, okay. Smaller head, like microsephaly, rocker bottom feet, clef lip palate, polydactyl that's more trisomy 13, of patosendrum. Okay, so let's jump on to the next question. Now a five-year-old male with a long face, large ears, and large testicles. So with this, what's your diagnosis? What's the mechanism of inheritance? What's the genetic pathophysiology and the associated principle? What's the diagnostic testing? So how do you diagnose this? What's the common psych association? What's the common neuro association? Believe it or not, these are all concepts they love to test on the exam, right. So if you see a kid with big everything, right? So like long face, big ears, big testicles, hopefully you're thinking about fragile X syndrome, okay. It's an X-link disorder, right.

So that's another reason it's higher because most of the trinucleothide repeat the disorder, tend to be autozomo-dominant inheritance, right. But this is different, okay. It's an X-linked trinucleothide repeat disorder, okay. So the trinucleothide repeats here, CGG repeats, okay. I remember that because it's a trinucleothide repeat disorder, it would demonstrate the principle of genetic anticipation, okay. Where the symptoms shop like earlier, they shop more severe as generations go by, okay. And in general, the way you diagnose this is you do molecular testing for the FMR1, okay. So like fragile X, mental retradition, 1 G, okay. And the psych associations here is just something you need to commit to memory. There's ADHD, ADHD is very common in kids with fragile X, an autism is also very common in kids with fragile X, okay. And then with regards to neurological problems, some of these kids actually have like very mild intellectual disability, but they're usually like normalish with regards to IQ, I mean, it's not like profoundly low, it's not good, but it's okay, okay. It's okay. And they also tend to get a lot of seizures, okay. In fact, fragile X syndrome is probably is actually the most common cause of inherited intellectual disability in the US, okay. So just something to keep in mind. Okay. So let's jump to the next question. This one is a very easy one. This is an auto-click question on the exam, okay.

So Tom male with gynecomastia infertility, no visual hair, and I'll just tell you that it has a very tiny testicles, okay. Hopefully you know this to be client-filter syndrome, okay. And the, the carotype is 47 double XY, okay. Very easy to recognize that on test. Okay. So next question. So this one is low dead because it's very high yield, okay. So this question describes a female with a low posterior heraline, okay. A webneck, okay. Congenital lymphedema, okay. I'll just tell you that another buzz word, although they could try to trick you by putting congenital lymphedema like I did, but another word you could see is cystic hygroma, okay. And short stature, okay. So what's your diagnosis? I really hope you're telling me that this patient has a Turner syndrome, okay. And the carotype, right. Obviously it's 45 X, okay. It's 45 X. Patients may actually have less severe symptoms if they have like like genetic diseases and across their different cells all over the body. The cardiac associations for Turner syndrome, you want to remember your your eiotic problems primarily, okay. So remember your bees and your seas, your bees stands for a bi-cospidiotic valve, right. So these kids may have like eiotics stenosis like early, like in the 50s, for example. Contrast that with like the regular people that get eiotics stenosis from valve calcification in their 70s or 80s, okay. The C stands for quotation of the eiotic, okay.

So if they describe a patient that has hypertension in the arms, but hypotension in the legs, think about quotation of the eiotic, okay. With regards to kidney problems, right. So classic exam association, he is Horshrew kidney, okay. Basically like the infuripose of the kidney fuse, okay. And then they are stuck on the infurum as interic artery, okay. Very common condition in patients with Turner syndrome. In general, if you want to correct the short stature, you can actually just go ahead and administer growth hormone while the kids are small, okay. You can actually help them sort of catch up some of their lost height. Alternatively for the, I guess not alternatively, but if you want them to have a secondary sexual characteristic at puberty, you can actually go ahead and give them estrogen. And that should help them at least much like get like some maturation of the breasts and stuff like that. And then Turner syndrome, think of it as being a kind of hypergonadotropic hypogonadism. And the reason it's a hypergonadotropic hypogonadism is based on the fact that these kids tend to have strict ovaries, okay. So the ovaries are not producing anything, okay. So there's no negative feedback at the level of the hypothalamus or the anterior pituitary. So these kids tend to have very high levels of FSH and LH, okay. That's why it's a hypergonadotropic hypogonadism, right. So the Turner syndrome is actually a very high yield cause of primary menoria, right. So failure to menstruate.

Now, the close cousin to Turner syndrome is something known as noonine syndrome. So this is lower yield compared with Turner's, but it's one of those things where most people will probably get it wrong on an exam, okay. But hopefully you won't be one of them because you listen to this podcast and actually paid attention, okay. So the close cousin is noonine syndrome. And noonine syndrome actually has many commonalities with Turner's, right. So you have like the cystic hygroma, you have the web neck, you have many of the same findings as Turner syndrome, okay. But there are some key differences you want to recognize, okay. Turner's syndrome is primarily a problem in girls, okay. noonine syndrome classically shows up in boys, okay. So if you see a Turner syndrome presentation in boys on your exam, you want to think really hard about noonine syndrome, although noonine syndrome also shows up in girls because it actually has a little more dominant inheritance, okay. So it shows up in both boys and girls, but on exams classically, you'll shop in a boy, okay. That's one. Another thing is the gene mutation is the PTPN1 gene mutation that's very low yield. I don't really, if you say that being tested, but who knows, okay. But one very subtle difference that would really help you differentiate this noonine from Turner's syndrome on the exam is that in Turner's syndrome, the kids tend to have a left ventricular outflow tract problem, right.

So like a coercation of the order by Cosperiodic valve, but in noonine syndrome, the kids tend to have more of a right ventricular outflow tract problem, right. So LVOT problems in Turner's syndrome are VOT problems in noonine syndrome, okay. Like Pomonextanosis, for example, okay. So think more of left-sided hard problems with Turner's, right-sided hard problems with noonines, okay. Now, so I'll see that's probably all I want to discuss. Let me see if I'm missing out on any points here. Yep, that's all I want to discuss here. Okay, so let's jump up to the last question, okay. So last question is just a grab bag. So catch 22 syndrome, the two mechanisms behind the development of pre-no-wily syndrome, the two mechanisms behind the development of engolment syndrome, and then the classic presentation of both disorders and then the charge association, okay. So let's just run out with this. Now, the catch 22 syndrome, right. So hopefully you already know this to be the George syndrome, okay. I remember that the pathophysiology is failure of the third and fourth pharyngeal pouches to develop properly. Remember those pharyngeal pouches that arrive from endoderm, not ectoderm, endoderm, okay. It's a relatively common disorder. In fact, it's probably the second most common genetic diagnosis if you're comparing with Down syndrome, okay. And the catch 22, what does it stand for? Okay.

These kids tend to have like a sanatic congenital heart diseases, like truncocacteriosis or tetralogy of phyllo. They also tend to have cranial facial anomalies, right. So that's what the A stands for, right. So like they could have like a very small mandible, a small mouth like macrognaffia. They may have like low-set ears. The T stands for thymic hypoplegia, right. So these kids tend to have a lot of viral and fungal infections because they essentially have a T cell deficit. Remember that your thymus is where your T cells go to mature, okay. So they may give you an exam question and in the Q stem, they may say there's no thymic shadow on a newborn chest x-ray, okay. I remember that severe combined immunodeficiency from an adenosine diaminase deficiency will also present in a similar fashion. The absence of a thymic shadow on a newborn chest x-ray. And then the C stands for cognitive problems, right. So these kids tend to have an intellectual disability. The H stands for hypoparathyroidism, okay. Remember your parathyroid glands and your thymus come from the third and fourth and final pouches, okay. So these kids could actually a very classic exam question is a kid presenting with hypocalcymic seizures, okay. And a prolonged QT interval on a newborn EKG, okay. Think about the hypocalcemia from the hypoparathyroidism that accompanies the George syndrome, okay. And then the 22 stands for the deletion, the 22-Q11 deletion on chromosome, so the deletion of chromosome 22, okay.

So the George syndrome is a catch 22 syndrome. Another syndrome that's lower yield but may shop on your exam, okay, that also has many of those catch 22 features is something known as a Velo cardioficial syndrome, okay. Velo cardioficial syndrome, okay. So Prater Wheelie versus Injoumen, okay. So the thing is chromosome 15 in general for guides, okay. You shot you genetically silence, right. So this is genetic imprinting coming into play. You genetically silence mom's chromosomes and express only that's chromosomes, okay. For ladies, you genetically silence that's chromosomes, okay. Again, that's genetic imprinting and you express mom's chromosomes, okay. So with that understanding of how genetic imprinting works with chromosome 15, let's talk about how Prater Wheelie syndrome arises, shall we, okay. So there are two ways a person can get Prater Wheelie syndrome. Again, I said, if you're a guy, you genetically imprint mom's chromosomes and express that's chromosomes. But let's assume you have a deletion of that chromosome 15, okay. Then you can certainly have Prater Wheelie syndrome. Alternatively, if you inherit both chromosome 15s from mom, right. That's the principle known as uniperental decimium, right. So uniperental, one parent, thysomy, two chromosomes, okay. That means that you shut off both of mom's chromosomes. You have no dad's chromosomes to express in the first place.

And again, you also have a very similar phenotype to a person that has a deletion of chromosome of dad's chromosome 15, okay. And for Injouman syndrome, right. Again, I said that normally in women, you shut off dad's chromosome 15 and express mom's chromosome 15, okay. So let's assume you have some problem where you you have a deletion of mom's chromosome 15, right. You won't have any genetic expression of those nice genes on chromosome 15. So you have Injouman syndrome. Alternatively, let's assume you inherit both chromosome 15s from dad, okay. Again, uniperental decimium, okay. You could also have Injouman syndrome with that, okay. And the classic presentation of predowilly syndrome on exams is a kid that has is a guy, okay. So P for pop, okay. So it's a guy, okay. With a shot stature, okay. The guy is usually super obese, like a high BMI, okay. They tend to have super small testicles and penis and penises, I guess if you're going to grow there. And then they tend to eat a lot, okay. In fact, for some of these kids, you actually have to like lock up the fridge. If not, they'll get into a lot of problems. They just keep eating, eating, eating, eating, eating. Okay. So just something to keep in mind. For Injouman syndrome, right. They classically describe a kid with a taxi. Again, it's literally this time. Okay. So remember the M and Injouman for the M and mom, okay. And those kids tend to have like a very small face, okay. And they laugh a lot, okay.

So like they have like just uncontrollable laughter, okay. That's a very high-eud association for Injouman syndrome, okay. And then the charge association is just like Vactron that I mentioned earlier. It's just another association you need to probably commit to memory. The C stands for Kulubuma, okay. I would encourage you to look at this, look at pictures of this. It's like a keyhole defect in the iris. The H stands for heart disease, okay. So like congenital heart problems. The A stands for atrija of the queen, okay. So like queen electrician, right. So the classic presentation of queen electrician exams is a kid that is cyanotic, right. So they're like blue, but once they start crying, they become pink, okay. Basically they have occlusion of the like the inner parts of your nose. So they can breathe in through their nose. So they become hypoxic, but when they cry, they open up their mouths and they can breathe that way, okay. Now the R stands for retardation, right. So like mental retardation, we tend to not use that term anymore. We now use the term intellectual disability. And then the G stands for geoanomalies, okay. So like genital urinary problems. And then the A stands for ear anomalies, okay. So that's the charge association. The charge association, actually there is some literature that has been coming out recently that shows that 30 sizable number of kids that have this association like more than 50% of them have a CHD7 gene mutation on chromosome 8, okay.

A CHD 7 gene mutation on chromosome 8. So that's just something you'd want to keep in mind, okay. So that's the last part of this presentation. Although I guess one thing I'll just add for pre-davila syndrome is those kids actually tend to be floppy at birth, okay. So they're like hypotonic. So just under the thing to keep in mind, okay. So with that, I'm going to end this podcast. I would encourage you like I promise you, you'll probably get a couple of questions right from this podcast on many exams because these things, they have like this wall factor associated with them. So they love to test them pretty frequently. As long as you can recognize the clinical presentation, know some quick genetics, understand some mechanisms, especially with like Down syndrome and the Injumans, Lasher, Prido Willie syndrome, you should be good to go, okay. So I wish you all the best. If you spot any errors or have any questions, just make a comment, send me an email at divine interventionpodcasts at gmail.com and I'll be sure to get back to you as quickly as I can, okay. Have a wonderful day and stay blessed. Shalom.

The "target sign" or donut shape.

IgG antibodies against gliadin (instead of IgA anti-tTG).

Turner syndrome typically involves left ventricular outflow tract issues (e.g., bicuspid aortic valve); Noonane syndrome tends to involve right ventricular outflow tract issues.

Turner syndrome (45,X).

Fragile X Syndrome.

Intussusception.

Maternal inheritance; mitochondria are passed exclusively from the mother.

Hirschsprung's disease.

The double bubble sign (stomach and proximal duodenum) suggests duodenal atresia.

Prader-Willi Syndrome (PWS).

Trisomy 21.

Pyloric stenosis typically causes non-bilious vomiting and presents within the first eight weeks of life; Duodenal atresia classically presents with bilious vomiting.

Suggests a mitochondrial disorder.

Maternal inheritance; mitochondria are passed exclusively from the mother.

Hirschsprung's disease.

The double bubble sign (stomach and proximal duodenum) suggests duodenal atresia.

Prader-Willi Syndrome (PWS).

Trisomy 21.

Pyloric stenosis typically causes non-bilious vomiting and presents within the first eight weeks of life; Duodenal atresia classically presents with bilious vomiting.

Suggests a mitochondrial disorder.