DIP Episode 423 - USMLE Step 2/3 Rapid Review Series 86
Topic
Genetic disorders (Fragile X, etc.); Neurological deficits; Hip pathology (LCPD, SCFE); Nephroblastoma (Wilms Tumor); Syndromic associations.
Key Takeaway
High-yield board questions frequently test the specific genetic markers and chromosomal locations of repeat expansion disorders (e.g., Fragile X on the X chromosome) alongside age-specific orthopedic conditions (DDH -> LCPD -> SCFE) and the characteristic findings of pediatric abdominal masses (Wilms Tumor).
Episode Notes
Source / episode info
- Episode: 423
- Title: Divine Intervention Episode 423: USMLE Step 2/3 Rapid Review Series 86
- Published: 2022-11-01
- Source: Episode page
One-liner
This episode provides a rapid review covering high-yield genetic disorders defined by repeat expansion (Fragile X, Huntington's), age-specific hip pathologies (DDH, LCPD, SCFE), the clinical presentation of conversion disorder, and critical pediatric abdominal masses like Wilms Tumor, along with associated syndromes.
High-yield summary
- Genetic Disorders: Know the specific gene, repeat expansion type, and chromosome location for Fragile X (FMR1, CGG on X); Huntington's (HTT, CAG on Chr 4); Myotonic Dystrophy (DMPK, CTG on Chr 19).
- Hip Pathology Progression: The typical age progression of hip issues is Developmental Dysplasia of the Hip (newborn) -> Legg-Calvé-Perthes Disease (young males <10 years) -> Slipped Capital Femoral Epiphysis (obese adolescents >10 years).
- Wilms Tumor: Classically presents as a flank mass that does not contain calcifications. True hematuria is confirmed by seeing actual red blood cells on microscopy, distinguishing it from myoglobinuria.
- WAGR Complex: A constellation of findings: Wilms Tumor + Aniridia + Genitourinary anomalies + Intellectual Disability.
- Conversion Disorder: Defined by neuro deficits that are bizarre and lack a rational neurological localization; the patient often exhibits a "don't care" attitude toward symptoms.
Learning objectives
- Identify the genetic basis, repeat expansion type, and chromosomal location for major X-linked dominant disorders (Fragile X).
- Differentiate between age-specific hip pathologies: DDH, LCPD, and SCFE.
- Recognize the classic presentation of Wilms Tumor and its associated syndromes (WAGR, BWS, DDS).
- Apply clinical reasoning to diagnose conversion disorder based on inconsistent neurological findings and patient demeanor.
- Understand the pathophysiology of avascular necrosis in pediatric hip joints.
Board exam buzzwords
| Condition | Key Finding | Association | Board Exam Tip |
| Fragile X Syndrome | Macroorchidism, long face, large jaw | FMR1 gene mutation (CGG repeat expansion) | Always remember the specific chromosome (X) and the physical findings. |
| Legg-Calvé-Perthes Disease | Avascular necrosis of femoral head | Young males <10 years; improves with rest/worsens with activity | The age group is critical for differentiating it from SCFE or DDH. |
| Wilms Tumor (Nephroblastoma) | Flank mass, no calcifications | WAGR complex, Beckwith-Widdemann Syndrome (BWS), Denys-Drash Syndrome (DDS) | Remember the "no calcification" rule for diagnosis. |
| Conversion Disorder | Inconsistent neuro deficits; "Don't care" attitude | Functional Neurologic Disorder | The combination of bizarre symptoms and lack of concern is highly suggestive. |
Rapid review table
| Topic | Key Point | Context | Exam Relevance |
| Fragile X Syndrome | FMR1 gene mutation (CGG repeat) | Causes intellectual disability, macroorchidism, large jaw/ears. | High-yield genetics question; requires knowing the specific gene and chromosome. |
| LCPD vs SCFE | LCPD: <10 years; SCFE: >10 years | Both are hip avascular necrosis/epiphyseal issues. Age is the primary differentiator. | Use age to correctly categorize the pathology (DDH -> LCPD -> SCFE). |
| Wilms Tumor | Flank mass, no calcifications; true hematuria | Associated with WAGR complex and BWS/DDS syndromes. | Must distinguish from other renal masses that may calcify (e.g., neuroblastoma). |
| Conversion Disorder | Neuro deficits without rational localization or physical cause. | Patient often lacks concern for symptoms ("don't care" attitude). | Requires ruling out organic causes first; the bizarre nature of the deficit is key. |
Board-speak -> diagnosis
| Board-speak / Vignette phrase | Diagnosis / Concept | Why it fits |
| Male child with macroorchidism, long face, large jaw, and intellectual disability. | Fragile X Syndrome | Classic physical stigmata associated with the FMR1 gene mutation (CGG repeat expansion). |
| A young male patient presenting with insidious hip pain that worsens with activity but improves with rest. | Legg-Calvé-Perthes Disease (LCPD) | Pathophysiology is avascular necrosis of the femoral head, typically seen in males under age 10. |
| Flank mass found on imaging that does not contain calcifications and presents with hematuria. | Wilms Tumor (Nephroblastoma) | The classic presentation; distinguishing it from masses like neuroblastomas which often calcify. |
| A patient presenting with sensory deficits in the right leg, including loss of pain/temperature AND fine touch/vibration, without clear localization. | Conversion Disorder / Functional Neurologic Disorder | These two tracts (Spinal Thalamic Tract and Dorsal Column) cannot be simultaneously affected in the same extremity due to their distinct spinal cord locations. |
| A newborn male presenting with hip instability requiring a pubic symphysis ultrasound. | Developmental Dysplasia of the Hip (DDH) | This is the most common cause of hip pathology seen at birth, often managed with a closed reduction/brace. |
| An obese adolescent boy with acute onset hip pain and radiographic evidence of epiphyseal slippage. | Slipped Capital Femoral Epiphysis (SCFE) | Occurs in older children/adolescents; the epiphysis slips off the metaphysis due to growth plate stress. |
Differential diagnosis / distinguishing features
Pediatric Abdominal Masses (Wilms Tumor vs Neuroblastoma)
| Key Features | Distinguishing Findings | Next Step |
| Wilms Tumor | Flank mass, no calcifications; associated with WAGR/BWS. | Biopsy/Imaging confirmation; genetic testing for syndromic associations. |
| Neuroblastoma | Abdominal mass; often contains calcifications (due to neural tissue). | Staging workup; treatment based on risk stratification and size. |
Syndromes Associated with Wilms Tumor
| Key Features | Distinguishing Findings | Next Step |
| WAGR Complex | Wilms Tumor + Aniridia + GU anomalies + Intellectual Disability | Screening for aniridia (slit-like pupils) and genetic counseling. |
| Beckwith-Widdemann Syndrome (BWS) | Overgrowth disorder; hepatoblastoma, visceromegaly, hypoglycemia in neonate. | Monitoring blood glucose levels in the newborn period due to hyperinsulinism. |
| Denys-Drash Syndrome (DDS) | Renal failure, pseudohermaphroditism, associated with WT1 gene mutation. | Kidney function monitoring; genetic testing for WT1. |
Management pearls
- For suspected conversion disorder, the initial workup must be exhaustive to rule out organic causes (e.g., peripheral neuropathy, myelopathy) before attributing symptoms to functional/psychiatric etiology.
- In LCPD, the pain is often insidious and activity-related; physical therapy and rest are primary management pillars, but monitoring for secondary AVN is crucial.
- When evaluating a pediatric flank mass, always obtain imaging that confirms calcification status; absence of calcifications strongly favors Wilms Tumor over neuroblastoma.
- The diagnosis of DDH requires careful assessment in the newborn period using ultrasound to guide appropriate bracing and follow-up care.
Don't miss
Integration & clinical reasoning
- Genetics & Chromosomes: The pattern of repeat expansion disorders (Fragile X on X; Huntington's on 4; Myotonic Dystrophy on 19) is a high-yield way to test knowledge of chromosomal locations alongside genetic mechanisms.
- Orthopedics & Age: Using age as the primary diagnostic filter for hip pathology (DDH -> LCPD -> SCFE) helps prevent misdiagnosis and improves clinical reasoning skills.
- Nephrology & Syndromes: Understanding that Wilms Tumor is often part of a larger syndrome (WAGR, BWS, DDS) forces the student to think globally about associated organ systems and genetic defects.
Concept connections / cross-references
- For general pediatric musculoskeletal issues and growth plate injuries, review [ Episode 123 ] on orthopedic emergencies.
- For detailed genetics reviews covering other repeat expansion disorders (e.g., Niemann-Pick Type C), see [Episode 50].
- For comprehensive coverage of abdominal masses and oncology, refer to [ Episode 67 ].
High-yield association table
| Condition | Association | Mechanism | Clinical Significance |
| Fragile X Syndrome | FMR1 gene mutation (CGG repeat) | Trinucleotide repeat expansion leading to gene silencing/dysfunction. | Causes intellectual disability and distinctive physical features, especially macroorchidism. |
| Legg-Calvé-Perthes Disease | Avascular necrosis of femoral head | Idiopathic vasculitis affecting the blood supply to the epiphysis. | Requires careful monitoring as it can lead to secondary osteoarthritis later in life. |
| Wilms Tumor | WAGR Complex, BWS, DDS | Genetic predisposition (e.g., WT1 mutation) and developmental overgrowth/dysfunction. | Suggests a systemic workup is necessary beyond just the kidney mass. |
| Conversion Disorder | Functional Neurologic Disorder | Psychological stress or trauma manifesting as physical symptoms without organic cause. | Requires ruling out all structural causes first; diagnosis is clinical, not test-based. |
Key terms glossary
| Term | Definition | Context | Example |
| Macroorchidism | Enlarged testes size (testicular enlargement). | Physical exam finding in Fragile X Syndrome. | A male patient with intellectual disability and large jaw may present with macroorchidism. |
| Avascular Necrosis (AVN) | Death of bone tissue due to interruption of blood supply. | Pathophysiology underlying LCPD or hip pain after steroid use. | The femoral head in LCPD suffers AVN, leading to eventual joint damage. |
| Nephroblastoma | Embryonal tumor arising from the kidney parenchyma (Wilms Tumor). | Pediatric abdominal mass; often found incidentally during imaging. | A flank mass without calcifications is highly suspicious for Wilms Tumor. |
| Pseudohermaphroditism | Phenotype does not match the expected sex based on karyotype/genetics. | Seen in Denys-Drash Syndrome (e.g., 46,XY male appearing phenotypically female). | Indicates a complex endocrine or genetic pathway disruption. |
Study optimization
| Topic | Study Approach | Priority | Resources |
| Genetic Disorders | Create flowcharts mapping gene -> repeat -> chromosome -> phenotype. | High (Must memorize the specific associations). | Review genetics board questions; use mnemonics for chromosomal locations. |
| Orthopedics/Pediatrics | Use age and clinical progression to differentiate similar conditions (DDH, LCPD, SCFE). | Medium-High (Clinical reasoning is key). | Focus on "when" the condition occurs in life (newborn vs <10 years vs >10 years). |
| Nephrology/Oncology | Create a differential diagnosis table for abdominal masses based on calcification and associated syndromes. | High (Wilms Tumor associations are high-yield). | Review pediatric oncology guidelines; memorize the components of WAGR and BWS. |
Question pattern recognition
- Pattern: Macroorchidism + Large Jaw/Long Face -> Fragile X Syndrome. This triad is a classic, highly specific presentation for this genetic disorder.
- Pattern: Flank mass (no calcifications) + Hematuria -> Wilms Tumor. The absence of calcification is the most critical distinguishing feature on imaging.
- Pattern: Hip pain that worsens with activity and improves with rest in a young male <10 years old -> LCPD. Age and pattern of pain are key to differentiating it from SCFE or DDH.
Test yourself
Common mistakes to avoid
Common traps
Original transcript with highlights
Original transcript with highlights
Okay, welcome. My name is Divine. This is episode 423 of the Divine Intervention Podcast. And to this podcast, I'm going to be continuing the Rapid Review series for the US Milis Step 2 C, Kinstep 3 exams. This is going to be series 86. Alright, so what if they give you a question about a child that has the televised 5 year old boy, he has intellectual disability, has autistic features, has a long face, has a large jaw, has big, everything, many things are large here. So long face, big jaw, big ears, big testicles, right? Sometimes you don't see big testicles, they'll use the term macro or a kid as a, what should you be thinking about? Well, I'll really be saying, oh, Divine, this sounds an awful lot like fragile X syndrome, right? Remember, fragile X syndrome is one of the training growth I repeat the soarers. And in this training growth I repeat the soarer, right? First things first is to know the mode of inheritance. Remember, it's excellent dominant inheritance. Really, there are two excellent dominant disorders that are friends that the NBA is really wanting to know. One is fragile X syndrome. The other one is outboard syndrome. Outboard syndrome is another pretty high yield excellent dominant disorder that you need to know for your exams. So the thing then that will be helpful here is asking ourselves, okay, what's the training growth I repeat? That's not so you know, fragile X syndrome, right? Well, it's the, it's the CGG training growth I repeat.
I remember the gene that is messed up is the FMR1 gene, right? The FMR1 gene, FMR1 gene, right? FMR1 gene. That's pretty high yield to know. The thing is the NBA is, they kind of recognize that many people have memorized the training growth I repeat, but many people just kind of ignore the gene. So that's associated with those training growth I repeat. That's not always the smartest idea in the world, right? So it's just kind of helpful to know the other genes and the training growth I repeat problems, right? So remember like Frijik say Taksia was the training growth I repeat. And the real thing is that you're saying all the lines are GAAA training growth I repeat. Now what's the gene that is messed up? It's the Fratoxin gene. It's the Fratoxin gene, the Fratoxin gene, the FXN gene, Fratoxin gene. And then in Huntington's disease, what's the training growth I repeat? Well, don't forget it's the CAG training growth I repeat, right? I remember the gene that's affected is the Huntington gene. Sometimes on exams we see it referred to as the HTT gene, Huntington, right? Huntington. And then the final training growth I repeat is Sodor, right? Myotonic dystrophy, right? Remember there's the CTG training growth I repeat, that's associated with that. And it is the DMPK gene, right? It's a Chinese DMPK gene that's messed up in a person that has myotonic dystrophy, right?
And if you even want to take things a little step forward, if you want to make us just a somewhat harder question that's just straight up recall, they can ask about the chromosome, right? So remember in fragile legs it's your X chromosome, that's not a big surprise, right? That's affected. Right? In Fratoxia, right? Fratoxia is chromosome 9. In Huntington's disease is chromosome 4, right? Chromosome 4, right? Chromosome 4. And they remember that in myotonic dystrophy, it's chromosome 19, that is messed up, right? Chromosome 19, that is messed up. And just starting chromosomes just end up being important on exams, right? Like in myotonic dystrophy, it's chromosome 19, WIMMS trimmers, right? Chromosome 11, Huntington's disease chromosome 4, Fratoxia attacks your chromosome 9. Fratoxia like syndrome is that X chromosome, right? If you see, just these disorders as you learn them, or just encourage you, just kind of make sure you kind of know the chromosomes. I'm pretty sure I have a podcast from back in the day on just high-yield chromosomes or something like that. It's probably worth a listen, especially if you're taking any of your USML Es, or you're taking your Pete's shelf exam, right? You love to test these weird things, right? So, again, fragile X syndrome, as I said, which is what I started with. Everything is big. They have like big, big jaws, large jaws, long face, large ears, big testicles, marker, or chitis.
Now, I guess the logical next thing I'm going to is what's the other disorder on exams that can be associated with or chidis? Like what disorder on exams will be associated with a person having testicular issues? Well, I would really hope that you're saying, oh, divine, sounds an awful lot like mumps. So, remember, mumps loves to torch two things. Mumps torches your testicles, so it causes or chidis. Well, actually torches three things. I think they're about three things. So, it torches your testicles. You're going to get or chidis as a result of that. It torches your pancreas, so you can get an acute pancreatitis from that. And it also torches your perotid glands, right? So, you can get a parotitis as a result of a person having mumps. And obviously, I would hope you know that mumps has no treatment. You can do supportive care. It's a viral infection. There's not much of any treatment for it. Okay. Now, what if they give you a question about a patient? And they tell you that this patient has presents with loss of pain and temperature in their regular extremities, loss of fine-toil vibration and perception in their regular extremities, and this patient also says that he started like three hours ago and he doesn't seem to be concerned about all these neuro deficits that they have. When you see something like this, what should you be thinking about?
When you see something like that, I really hope you're saying, oh, divine, this sounds an awful lot like conversion disorder, right? So, what in the world is conversion disorder? Well, conversion disorder is a bunch of stuff, right? So, the first thing is, you've got to notice that this person has neuro deficits that make absolutely no sense. You're just like, this thing is pretty bizarre, right? You notice that they have this almost like sodium onset, like sensory problems or motor problems that are just not explained by the physical exam or by any kind of rational neurologic localization, right? Or even on imaging, you're like, man, this imaging is completely normal. This person seems to have all these strokes because the thing is many times on exams, the classic presentation is don't care attitude with neuro deficits that don't make any sense on physical exam. Well, the NBM is they can get a little corny and you can get a question where the person has all these neuro deficits. But then you get exhaustive diagnostic testing, exhaustive imaging, and you're just like, man, there's nothing on imaging. When you see something like this, this person has conversion disorder, right? So, some of you may wonder, okay, define why those that physical exam doesn't, why doesn't it make any sense? Well, think about it. This person lost pain and temperature in the right low extremity.
And then this person also surprisingly lost fine touch, vibration and perception in the right low extremity. Those things do not make any sense because pain and temperature is spinal thalamic tract, fine touch, vibration and perception. That's your Dorsal column. Your Dorsal column does not dequecede in the spinal cord. Your spinal thalamic tract dequecede in the anterior white commission of the spinal cord. So, in general, whenever you have spinal cord problems that are causing you to have spinal thalamic tract issues and Dorsal column issues, those neuro deficits have to be not posing extremities. They essentially cannot be in the same extremity. It just doesn't make any kind of neuro logic sense. So, you see stuff like this and you see the person has like a don't care attitude towards the neuro deficits. You really want to think about conversion disorder. Conversion disorder. You know, they just don't seem to be really concerned. I mean, when the person is having a stroke, you better believe that they're going to be super concerned about their symptoms. But these people don't really have any major concerns or anything of that sort. Right. And, you know, in general, those people require some kind of psychiatric evaluation. Right. You need psychiatric help. And one other thing I guess I'll throw in here is, you know, the MDM is these days.
They're very big on these derivatives where they do these things where, you know, you're reading the question and you're like, wow, okay, I know what this is. And then you look at the answers and the stuff you know for sure that it is is not an answer choice. Right. Where they describe, right. Again, this is something that you see me emphasize a lot. The MDM is they love these derivatives. So, what's another term you may see on exams for conversion disorder? Well, one of the term you may see on exams for conversion disorder is you may see the term functional neurologic disorder, functional neurologic disorder. Really, when in general, when you see the term functional attached to a disorder in medicine, quite a number of times it means that the person has what may be like a neurologic problem, but they may be like some psychiatric undertones to that neurologic problem. That's a functional disorder. Right. So just think of conversion disorder as functional neurologic disorder. That's a that's a term you want to be familiar with for for exams. Okay. Now, what if they give you a question about a seven-year-old boy and they tell you that for the last three weeks he has been having this limp. And whenever he tries to play sports, you know, his hip just hurts significantly. You know, but when he rests, when he relaxes for a while, the pain kind of reduces. But once he starts walking, running, playing sports, or anything like that, the hip pain just comes back.
And it's kind of in CDIOS. He's been going on for a while for like the last few weeks. Wash and he's a seven-year-old boy. What should you be thinking about? Well, I hope you're saying, oh, divine. This sounds a lot like leg calve perthese disease. Right. Leg calve perthese disease. Right. So leg is L-E-W-G. Calve C-A-L-V, the E has an apostrophe of the end. And then perthesis, P-E-R-T-H-E-S. Perthese, I think it's probably a place in Australia. I don't know, but anyway, but leg calve perthese disease. Right. So what's the pathophase? So the pathophase is that it's an E-Vasculinecrosis. It's very high-yote, you know. It is an E-Vasculinecrosis of the femoral head. It is an E-Vasculinecrosis of the femoral head. Usually it happens in young males under age 10. That's actually a pretty helpful thing to know for exams. In fact, let me tell you this. There are these three, and then I'll come back to leg calve perthese, but I don't want to forget this point. There are these three things, joint problems that show up in kids that age many times can tell you exactly what it is. Right. There's the developmental displacement of the hip. There's the leg calve perthese disease. And then there's sciffy. Right. Slip capital femoral epithesis. To be honest with you, if you look at the names D with the first one L with the second one S with the third one, that's actually the order. And you see the going on for medical order. That's actually the order of age where these people are affected.
Right. So if you see like a newborn with hip problems, newborn with hip problems, that tells you that it's developmental displacement of the hip. So developmental problems, it would make sense that it's a it's a newborn issue. Right. You know, you do the public harness for that. And then the L is the next one leg calve perthese disease. Right. If you're looking age wise, it happens in young males that are less than each 10. Young males that are less than each 10. And then if you see a person that has a hip problem, usually it's going to be a male that's over each 10 that's a teenager. Then you want to think about sciffy. Slip capital femoral epithesis. Scythi. Slip capital femoral epithesis. Usually that happens in like obese teenage boys. Right. So just follow that progression. I'm telling you many times the age is all you need. And again, remember, these are hip problems. These are hip problems. Don't don't domestic up on exams. Right. These are hip problems. Right. So going back to the original thing we said, right, boy seven years old, last few weeks in serious hip pain, gets worse when he tries to work out or play sports gets better when he rests. Right. That's like coffee per these disease. Right. It's an a vasculine and crosses of the femoral head. It's idiopathic. We largely do not know what causes it. Right. But it's an a vasculine and crosses of the femoral head. Right. So again, you're going to see the slow onset, hip pain. Right.
And usually these kids will have this weird lip. So I guess since we're talking about a vasculine and crosses, let's kind of hit on a few other causes of a vasculine and crosses. Well, let's look at some other classic in being even against answers that with a vasculine and crosses. If you see a question about an African American that has had multiple pain episodes, has a neurosis andemia and has hip pain, I would really hope you're saying, oh, a vasculine and crosses of the femoral head and a person that has sickle cell disease. I remember those sickle cells, they can include the blood vessels that feed the femoral head and that can cause a vasculine and crosses of the femoral head. Okay. Now what if they give you a question about a person that has a history of like severe persistent asthma and for the last three weeks, they've been having this insidious hip pain. Again, I would really hope in those circumstances, you're saying or divine, this person has evasculine and crosses from steroids. Remember steroids can absolutely cause evasculine and crosses. So they can make a question about a person that is on prolonged therapy. Like for example, if a person has severe persistent asthma, they're probably on like long term or ocular cholesterol steroids. But also if a person has like pushing syndrome, remember there are many cause of pushing syndrome, hypercordes, all is in free reason, those people can also have evasculine and crosses of the femoral head.
And then please do not forget that if a person has a skeafoid fracture, a skeafoid fracture, because the skeafoid has kind of a weird blood supply where it goes from like distal to proximal, they can have evasculine and crosses of the if they have a skeafoid fracture. That's why we put those people in a thumb spike a cast because it keeps the bones aligned properly so you don't have evasculine and crosses. So just make sure you know and understand evasculine and crosses for your for your exams. And then what if they give you a question about a child, a newborn, and they tell you that this newborn has, or this one will say it's a newborn, this is a six year old boy, how's that? This is a six year old boy. And this six year old boy has been having this flunk pain. And then they tell you that you know they get abdominal imaging and they notice that there is this mass in the flunk that does not you know contain calcifications. What should we be thinking about? And you know they even tell you that oh this child may have hematuria or something like that or they may not see hematuria but they may give you analysis findings where you see that wow. Hmm this child has a four plus blood on your analysis or three plus blood on your analysis. And you see like 50 to 80 red blood cells per high power field. That's a short red blood cells right. When you see this this is a WIME STRUM. This is a WIME STRUM. This is a WIME STRUM.
And if I talk about a WIME STRUM, again that's what I love about this rapid review podcast is you know you can go through in some directions different directions that are kind of helpful for exams gets you thinking a little globally with with your test. So this hematuria let me just make a solid salient point concerning this. So notice I said oh three plus blood but wow the 50 to 80 red blood cells per high power field. So when your analysis we see a lot of blood three plus blood whatever but when you're in my cross copy we see actual red blood cells 50 60 70 a lot of red blood cells that tells you that that person has a true hematuria. All those red blood cells are seen actual red blood cells. So this is obviously something you'll see in a person that has like WIME STRUM. For example or say for example a person that has an acute hemolytic transfusion reaction where again you're seeing a lot of blood and a lot of that blood is actual red blood cells that you're seeing right but what contrasts this with the case of a person that has like three plus blood on your analysis but you have zero to five red blood cells per high power field that doesn't make any sense right.
So on your analysis you're seeing three plus blood but when you're in my cross copy you're seeing almost no red blood cells when you see that that's rabdomyolosis that is rabdomyolosis that blood you're seeing is not actual red blood cells it's myoblobin it's myoblobin that's pretty high you to know for purposes of exams right. So now let's go back to WIME STRUM. Remember WIME STRUME usually presents as a flank mask that does not contain calcifications. It's a flank mask that does not contain calcifications that's pretty important because you can have certain masses that are not flank masses they actually like meet abdominal masses so they cross the midline but they contain calcifications that's going to be a neuroblastomer but again since the focus of this question is WIME STRUME it's going to be a WIME STRUME so WIME STRUME is a flank mask and it does not contain calcifications that's pretty high you to know sometimes on exams instead of calling it a WIME STRUME they'll call it a nephroblastomer you call it a nephroblastomer it's just something you want to be aware of and the thing is WIME STRUME has many associations for exams right.
So for example you can see WIME just on its own and that's it but WIME STRUME sometimes can also have an association of something called WHER the WHER complex whether W stands for WIME STRUME that A stands for an dysphoria so they have a congenital absence of the iris and then the G stands for the genital urinary anomalies and then the R stands for intellectual disability you know it has an old name but I'm not going to say it but the R you know is intellectual disability intellectual disability does the WGR complex or finding WIME STRUME and they remember WIME STRUME also has a pretty strong association with Beckwith Widermann Syndrome Beckwith Widermann Syndrome Beckwith Widermann Syndrome so the Beckwith Widermann Syndrome I guess maybe let me go back to the thing so the thing is that R in WGR stands for mental retradition but that term is largely not used anymore these these we use the term intellectual disability okay the R in WGR stands for mental retradition but these these we call it intellectual disability that's the term that's used these days to refer to mental retradition intellectual disability because you know retradition is kind of a hurtful term so WIME STRUME right so WIME STRUME what else is that associated with so it's associated with Beckwith Widermann Syndrome right remember Beckwith Widermann Syndrome has many high-yield things to know right that associated with you know hypo glycemia is a newborn because of the high levels of insulin it's associated with just many things right here paloblastomas that's like a benign liver mass it's associated with hemipartrophy visceromegalia right so your organs are big remember it's an overgrowth disorder it just causes many things but it's also associated with WIME STRUME right and then finally don't forget that WIME STRUME as long as there's something called Denny's Drache Denny's Drache Syndrome Denny's DEM
YS contain Drache right DRAS H Denny's Drache Syndrome right Denny's Drache remember Denny's Drache they literally have WIME STRUME but they have other things they have renal failure many times they can't stand up as an efferotic syndrome but they have sclerosis of their kidneys so they're going to renal failure and then they also pseudo hemaphyrdite so what's a pseudo hemaphyrdite a pseudo hemaphyrdite is a person who look he holds a hazard certain genotype but the phenotype does not correspond to say the genotype for example if you see like angin sensitivity syndrome those people have 46 X Y on the genetic level their males but phenotypically they are females that's a pseudo hemaphyrdite so people that have Denny's Drache Syndrome they are pseudo hemaphyrdite they have renal failure and they have WIME STRUME and surprisingly people that have Denny's Drache is the WT1 gene that's also messed up is a chromosome 11 problem just as we see in regular WIME STRUME is just something you kind of want to keep at the back of your mind for example just make sure in summary that you know the associations with WIME STRUME is Denny's Drache, Beckwith Withermen, WHR and just WIME STRUME in and of itself just stuff you want to make sure you you know so I'm going to go ahead and pause here again as I do at the end of every podcast I do offer one or one tutoring for many USML exams step one step 2ck step 3 pre-clean cool medical exams 30-click shoot-off exams and then I also offer review courses I have some review courses coming up in November I have the MBME Test taking strategy scores taking place on the 18th of November from 5 to 7 30 PM Mountain Standard Time so that's like 7 to 9 30 PM Eastern many people have taken this course they found it to be super helpful it's for step 2 and step 3 and people taking shot of exams they have a 20 hour review course that's going to be taking p
lace on the 21st 22nd 25th and 26th of November from noon to 5 PM Mountain Standard Time that's like 2 to 7 PM Eastern will cover is over four days cover like more than a thousand concepts from IM, PEAT, surgery, OB-GYN, neuropsych, ethics, communications, healthcare systems, multi-systems, persists and disorders and I'm not going to be using lectures it's going to be clinical scenarios because clinical scenarios are the things that show up on your exam so if you're expecting a lecture you're not going to really be getting that from me it's going to be almost entirely clinical scenarios probably like more than 95 clinical scenarios and it's for people taking step 2 step 3 complex 2 and 3 or people taking shot of exams and they want like a very good bird overview of most of the stuff that we've seen on your shelf exams and then I have a bio statistics bootcamp so if you want a bio stats review this is what you should be attended the bio statistics bootcamp is going to be on the 28th of November it's going to be from noon to 4 Mountain Standard Time that's from 2 to 6 PM Eastern Standard Time again it's not a place where I'm going to teach you a bunch of formulas you can do that on your own the thing I'm going to be teaching you is how to raise in with bio stats and it's for step 1 to step 3 complex 1 to 3 because the thing with bio stats and also for people that are taking their medicine board exams I want to solid bio stats review that's a great course to attend the thing about it is just in general bio statistics these these on NBM Es are not and not calculation based most of it is reasoning or you may have to do calculations but the formulas may not be the things that will help you get the right answers so that's where this bio stats bootcamp started many people have taken it and many people have found it we profoundly helpful so if it's something you're interested i
n just should be an email through the website and then I also have a You Tube channel Divine Intervention US Mally Podcasts and videos that's where I post the videos that I make and by the way I have these podcasts on Apple podcasts on Google podcasts and on Spotify if you actually so scribe with your Word Press account to my website divineinterventionpodcast.com you'll actually get an email notification whenever I make a new podcast and then finally I also have a new website called divineinterventionlifelessens.com many people said oh wow divine I really love the life lessons you put at the end of your podcast so I studied a new website divineinterventionlifelessens.com I post like two podcasts every week if I we have more than 120 podcasts right now but from a biblical perspective addresses a common problem that's faced by humanity it's actually an Apple podcast as well it's called the Divine Intervention Life Lessons podcast and then I also help with more interviews and errors applications so if that's something you're interested in just should me an email I've been conducting quite a number of mocking interviews with people for this current cycle so thank you for listening to this podcast have a wonderful rest of your day I'll see in episode 424 God bless you and bye for now
Practice questions — USMLE style
Question 1 — Genetics
A 5-year-old boy is evaluated for developmental delay and physical abnormalities. On examination, he has a long face, large jaw, prominent ears, and macroorchidism (enlarged testicles). Genetic testing reveals an expansion of the CGG trinucleotide repeat in the FMR1 gene located on the X chromosome. The patient meets criteria for which genetic disorder?
- A) Fragile X syndrome
- B) Ataxia-telangiectasia
- C) Huntington's disease
- D) Myotonic dystrophy
Answer: A. Explanation: The clinical presentation (long face, large jaw, macroorchidism) combined with the specific finding of a CGG trinucleotide repeat expansion in the FMR1 gene on the X chromosome is diagnostic for Fragile X syndrome. This disorder is an X-linked dominant inheritance pattern and is considered high yield for USMLE exams.
Question 2 — Orthopedics
A 7-year-old boy presents with a history of insidious, activity-related hip pain that has worsened over the last few weeks. The pain is significantly worse when he attempts to run or play sports but improves when he rests. Physical examination reveals limited range of motion and tenderness in the hip joint. Given his age and presentation, what is the most likely diagnosis?
- A) Developmental dysplasia of the hip
- B) Slipped capital femoral epiphysis (SCFE)
- C) Legg-Calvé-Perthes disease
- D) Septic arthritis
Answer: C. Explanation: Legg-Calvé-Perthes disease (LCPD) is an idiopathic avascular necrosis (AVN) of the femoral head, typically affecting young males under the age of 10. The presentation of insidious onset, activity-related hip pain that improves with rest is classic for LCPD. Developmental dysplasia of the hip usually presents in newborns, and SCFE typically affects older adolescents/teenagers due to growth plate issues.
Question 3 — Nephrology/Genetics
A 6-year-old boy is brought to the emergency department after his mother notices a palpable mass in his flank area. Imaging reveals an abdominal mass that does not contain calcifications. Laboratory analysis shows hematuria, with microscopic examination revealing numerous actual red blood cells (RB Cs) per high power field. The patient has no known history of trauma or systemic illness. Which diagnosis is most strongly suggested by this presentation?
- A) Nephroblastoma
- B) Wilms tumor
- C) Denys-Drash syndrome
- D) Bladder cancer
Answer: B. Explanation: A flank mass in a young child that does not contain calcifications, coupled with true hematuria (actual RB Cs seen microscopically), is highly suggestive of a Wilms tumor. While the patient may also have associated syndromes like WAGR or Beckwith-Wirtman Syndrome, the primary diagnosis based on the described physical and imaging findings is Wilms tumor. Nephroblastoma is a general term for kidney cancer, but "Wilms tumor" is the specific high-yield entity matching this description.
Question 4 — Neurology
A 35-year-old man presents to the clinic complaining of numbness and tingling in his right lower extremity that started three hours ago. He reports difficulty feeling temperature or fine touch in the affected limb. On physical examination, he demonstrates a profound loss of pain and temperature sensation (spinal thalamic tract) and also a loss of fine touch and vibration sense (dorsal column). Despite extensive neurological workup, including MRI, all findings are normal. The patient appears remarkably unconcerned about his deficits. Which diagnosis best explains this constellation of symptoms?
- A) Acute spinal cord compression
- B) Conversion disorder
- C) Guillain-Barré syndrome
- D) Transverse myelitis
Answer: B. Explanation: Conversion disorder (or functional neurologic disorder) is characterized by the presence of neurological deficits that are inconsistent with known physical or neurological pathology. Key features include sensory/motor deficits that do not follow typical anatomical tracts (e.g., loss of pain/temp and fine touch in the same extremity, which is neuro-logically unlikely), normal imaging studies, and a lack of significant emotional distress or concern regarding the symptoms ("don't care" attitude).
Quick fire review
What are the three things that mumps "torches"?
Testicles (causing orchitis), Pancreas (causing pancreatitis), and Parotid glands (causing parotitis).
What is the alternative term for Conversion Disorder?
Functional Neurologic Disorder.
In what order do the three common hip problems in children typically appear by age?
Developmental Dysplasia of the Hip (Newborn) $\rightarrow$ Legg-Calvé-Perthes Disease (<10 years) $\rightarrow$ Slipped Capital Femoral Epiphysis (>10 years/adolescent).
What is the key distinguishing feature of a true hematuria finding?
Seeing actual red blood cells on microscopy (e.g., 50-80 RB Cs/HPF), differentiating it from myoglobinuria or pseudohematuria.
Which gene mutation causes Fragile X Syndrome, and what is its inheritance pattern?
The FMR1 gene; the condition has an X-linked dominant inheritance pattern.
What are the three major associations of Wilms Tumor (WT)?
WAGR complex (Wilms, Agenesis of Iris, Genitourinary anomalies, Intellectual Disability), Beckwith-Widdemann Syndrome, and Denys-Drash Syndrome.
Which trinucleotide repeat expansion is associated with Fragile X Syndrome?
CGG repeats in the FMR1 gene.
What are the genes/repeats for Huntington's Disease and Myotonic Dystrophy, respectively?
HD: CAG repeats in the HTT gene; DM: CTG repeats in the DMPK gene.
Name three causes of Avascular Necrosis (AVN) of the femoral head.
Sickle cell disease, prolonged steroid use, and trauma/fracture (e.g., scaphoid fracture).
What is the defining characteristic of a Wilms Tumor mass on imaging?
It is typically a flank mass that does not contain calcifications.
Which syndrome involves pseudohermaphroditism, renal failure, and WT1 gene mutation?
Denys-Drash Syndrome (DDAS).
What specific finding suggests the presence of true hematuria rather than myoglobinuria?
Visualization of actual red blood cells on microscopy.
Quick recall / Anki-style questions
Which trinucleotide repeat expansion is associated with Fragile X Syndrome?
CGG repeats in the FMR1 gene.
What are the genes/repeats for Huntington's Disease and Myotonic Dystrophy, respectively?
HD: CAG repeats in the HTT gene; DM: CTG repeats in the DMPK gene.
Name three causes of Avascular Necrosis (AVN) of the femoral head.
Sickle cell disease, prolonged steroid use, and trauma/fracture (e.g., scaphoid fracture).
What is the defining characteristic of a Wilms Tumor mass on imaging?
It is typically a flank mass that does not contain calcifications.
Which syndrome involves pseudohermaphroditism, renal failure, and WT1 gene mutation?
Denys-Drash Syndrome (DDAS).
What specific finding suggests the presence of true hematuria rather than myoglobinuria?
Visualization of actual red blood cells on microscopy.