Crack the Case:
November 17, 2023
All pediatricians have encountered patients lost to follow-up where, when finally presenting for well care, reviewing growth and development can be a jarring experience. Certainly social determinants factor in strongly as to why gaps exist and with limited data points and at times periods of different guardianship, putting the pieces together can be even more challenging. We review such a case today in which linear growth velocity in particular has noticeably dipped, touching on broader topics of short stature and how to interpret drifting height percentiles.
Dr. Angela Kade Goepferd: This is Talking Pediatrics, a clinical podcast by Children’s Minnesota, home to The Kid Experts, where the complex is our every day. We bring you intriguing stories and relevant pediatric health care information as we partner with you in the care of your patients. Our guests, data, ideas, and practical tips will surprise, challenge, and perhaps change how you care for kids.
Welcome to Talking Pediatrics. I’m your host, Dr. Angela Kade Goepferd. We’re bringing you another episode of Crack the Case with Bryan Fate. And this episode is as much about the medical care itself as it is the things outside of medicine that influence the health and wellbeing of the patients we care for. Social determinants of health play a huge role in gaps that exist in care and at times limited data points for us to move forward with medical decision-making. Listen to this case of faltering growth and a toddler lost to follow up to learn not only more about short stature but also how we can address key social determinants of health.
Dr. Bryan Fate: All right, so welcome to Crack the Case where we dive into real cases seen at our Minneapolis continuity clinic to highlight medical decision-making, approaches to general pediatrics and life in primary care. We’ll also incorporate music written by myself and friends at the end of every episode to highlight teaching points and hopefully engage the emotive side of your brain. I’m Dr. Bryan Fate, a primary care pediatrician at Children’s Minneapolis, and with me today is Dr. Mary Meehan, another one of our outstanding University of Minnesota residents. In addition to being mother to a super adorable nine month old named Cam, Mary has also hiked Mount Kilimanjaro with malaria and cared for raccoons, deer, and other injured wildlife during volunteer work in college. I’m scared of raccoons so good for you, Mary. So our icebreaker question is: how has being a mom to Cam impacted your approach and experience as a pediatrician, Mary?
Dr. Mary Meehan: Being a new mom is the best. She is the coolest little person. It’s funny because a lot of families will, once I tell them I’m a new mom will say, being a pediatrician must make it so much easier, which I always say the reverse, being a parent makes me a way better pediatrician. There’s a lot of things in medical school that they don’t teach you about raising kids, things like sleep concerns, feeding concerns, which I have had both with my daughter. So I by no means am an expert in that, but it’s nice to be able to relate to patients a little bit better.
Dr. Bryan Fate: Yeah, I’ve seen that in clinic and you’re like the sleep training soothsayer now.
Dr. Mary Meehan: We’re still working on that, work in progress.
Dr. Bryan Fate: Yeah. Parenting’s messy. So to frame today’s case, all pediatricians have encountered patients lost in follow-up where when finally presenting for well-care reviewing growth and development can be a jarring experience so things have dropped off. Certainly social determinants factor in strongly as to why gaps exist and with limited data points and at times periods of different guardianship and households, putting the pieces together can be even more challenging. So we review such a case today in which linear growth velocity in particular has dipped, touching on broader topics of short stature and how to interpret drifting height percentiles. So let’s start the case. (singing)
Dr. Mary Meehan: So we have a 16-month-old ex term, previously healthy male who presented to clinic for a well-care visit. History really only notable for limited preventative care and under immunized status. During the conversation, family ended up reporting that he is much smaller than his other siblings, for which there was eight. Looking at his diet, he was primarily breastfed, mom with kind of an unknown supply volume as she primarily nurses and does not pump. Other than breastfeeding, he will drink a few ounces of almond milk a day and drinks water. He is offered solids but is very picky. Mom endorsed supplementation with vitamin D at some point during infancy, but unsure for how long. Other than that he stools regularly. He had a normal urine output, more than three wet diapers per day. And then mom notes for his development that really has been on track other than it took him a little bit longer to crawl and walk in comparison to his other siblings and he has not been sick recently.
Looking at review of systems, he’s had no GI concerns, no diarrhea, blood in stools, vomiting, abdominal pain or distension and no clay colored stools. He’s had no systemic symptoms, no fevers. He has not been noted to have any concerns with respiratory distress, choking on feeds, cyanosis or tachypnea. Mom just noted sometimes he appears sweaty with feeds. There’s no family history of congenital heart disease. He’s had no neurologic changes such as low tone or weakness and there’s no family history of endocrine disease. Looking at his measurements in the context of his parents, his dad is around six feet tall and mom is 5’8. Back on May 11th his weight was 9.28 kilograms, which is in the 11th percentile. Prior to that, he was seen back in October where he was nine kilograms in the 53rd percentile. Looking at his height, he was 28.7 inches, which is less than the first percentile. Previously at around seven months of age he was 26 and a half inches or the 19th percentile and his head circumference has kind of maintained in the 65th to 70th percentile.
Dr. Bryan Fate: So it looks like his length velocity has pretty notably fallen off the curve and his weight has also been slower. But what was his weight for length, Mary?
Dr. Mary Meehan: His weight for length was the 60th percentile.
Dr. Bryan Fate: Okay, so he’s maintained a healthy weight for length. I think when we’re thinking about our dips in growth, one thing to think about in terms of a crossroads is are we plump and short or are we thin and short? And if we maintained our weight throughout this process because if we have I think we think more about endocrinopathies like thyroid disease, growth hormone deficiency. If we have notably fallen off on the weight as well and weight for length has plummeted, we think more about systemic diseases. So things like malabsorption with IBD, celiac, eosinophilic esophagitis, immunodeficiencies, cardiopulmonary disease, malnutrition, neglect. So excellent history. You tapped into his nutritional piece really well.
I do have some concerns about the fact that he’s 16 months and still mainly breastfeeding. We don’t know mom’s breast milk supply, so he could be not getting as much as mom thinks. We also have an unclear history of vitamin D supplementation and I would also want to know a little bit more if there’s food insecurity, especially when it’s been such a huge gap between presenting to care. I think there can definitely be many social determinants of health impacting. You mentioned his mid parental height, which is great. So it looks like he has a taller growth potential. Based on that though we know there are many genetic determinants of height, so it’s not just a one-to-one correlation, but it gives us broader strokes view of things.
I would also want to know a little bit more about birth history. So does he have a history of IUGR, which as I think pediatricians out there know a lot of kids will catch up after IUGR and again depending on the cause too, but some just don’t and stay really small and they can be really frustrating. They can have a huge workup and we kind of shrug our shoulders as I think the mechanism is still being determined. You mentioned family history of endocrinopathy, you mentioned neurologic changes. So thinking about intracranial things, if his pituitary has been impacted at all with growth hormone, thyroid. I think thyroid review systems is great, making sure his newborn screen was normal and you hit on very nicely some of the systemic things we think about, which I think the only thing that mom brought up was some sweatiness with feeds. So any other further history points that you wanted to bring up Mary?
Dr. Mary Meehan: No, otherwise he’s been a pretty healthy kid. His review of systems, like you said was all reassuring. His newborn screen was normal. He was a term baby. No history of IUGR, HIE and again, no signs of systemic disease.
Dr. Bryan Fate: Well, let’s go into the exam.
Dr. Mary Meehan: So for physical exam, he was a very social and playful kid. He was well appearing, he did not look malnourished, he was well hydrated. Skin assessment, there was no rashes or lesions, no signs of acne. He had a normal ear, nose and throat exam. His lung exam was normal. His cardiac exam, he had a systolic murmur that was appreciated. His abdomen exam was all reassuring, soft, non-tender, nondistended. He had no organomegaly or masses. His genital exam, he had normal external genitalia. On musculoskeletal examination, he had genu varum present and on our neurological exam he had normal tone, reflexes, strength and gait.
Dr. Bryan Fate: Number one. Looking at him as just like are we thinking about malnutrition, dehydration, do we need to be in the hospital kind of thing. So it sounds like he’s playful, pretty robust, lots of roles, happy, developmentally it sounds like he’s on track, which is great. In terms of other things with exams, you mentioned [inaudible 00:10:34] so making sure that there’s no, like we talked about neurologic changes, no unusual development as in precocious puberty, signs of adrenal changes like hirsutism, facial hair, acne, that might indicate again like a pituitary disorder occurring. So we talked about the categories of endocrinopathy and systemic disease. And then I would also think about if there are any findings that are concerning for genetic disease. So things like Down syndrome, Turner syndrome, skeletal dysplasia such as achondroplasia. So looking at the body proportions is if the upper to lower extremity ratio looks disproportionate, but it doesn’t sound like you’ve had any concerns for that based on your exam.
Dr. Mary Meehan: No.
Dr. Bryan Fate: Perfect. I will summarize what we have so far. So we have a 16-month-old, otherwise healthy, developmentally appropriate toddler who’s happy and playful. Has been lost to follow up for about a year. We’ve noticed he was solidly on around the 20th ish percentile for height and has now fallen well below the growth curve. And weight has also been slower but has maintained his weight for length. I’ll also just put in the plug to make sure we’re looking at the appropriate growth curve. So for less than two years old, we should be looking at the WHO. Again, always remeasure. I know there are a lot of ways of measuring and kids are wiggly, et cetera, but I think if you see a data point that looks really off, you got to check again, like asking MA to just confirm or doing it yourself.
But if we have in fact confirmed this, then we have thought about these different categories of why linear growth could be faltering and it sounds like so far the biggest, you mentioned that we could have some rickets like findings on exam with the way that his lower extremities are proportioned. We know that there could possibly be contributory food insecurity. We know that we’ve had prolonged breastfeeding and maybe not consistent or absent vitamin D supplementation early in life. So that certainly jumps out in terms of further diagnostic work that we might think about. But I think given the extent of drop-off, I would also think about things like thyroid labs, so TSH T4. Checking growth hormones so IGF-1, IGFBP-3, vitamin D, PTH, alk phos, phosphorus.
And then I think given that there has been more limited history and data points, I would also probably look more systemically. So thinking about a CBC, celiac panel for sure, electrolytes, albumin as a marker of nutritional status. And then for imaging, I think this is a little bit young for bone age. We could certainly look at an X-ray for signs of rickets. Doesn’t sound like we have any concerning findings for skeletal dysplasia where we would do a survey. The last piece is the murmur and I would definitely want to check a SAT and make sure we don’t have a subtly hypoxemic child standing in front of us that has a higher metabolic rate that is making it difficult to gain weight, but thinking about potentially an echo as well. And I would want to make sure that he passed his congenital heart screen as a newborn. But he’s not purple, right?
Dr. Mary Meehan: He is not purple, no.
Dr. Bryan Fate: Okay, good. That would be bad to miss.
Dr. Mary Meehan: That would be bad.
Dr. Bryan Fate: What were the labs and imaging that came out?
Dr. Mary Meehan: So on initial lab work we looked at his electrolytes, which overall looked okay. His calcium was in the low normal range at 9.8. His phosphorus was normal at 4.4 and as well his creatinine was reassuring at 0.25. His alk phos was noted to be high at 508. He had a vitamin D level that was quite low at 9.6. His parathyroid studies, his parathyroid hormone was 205, so elevated. His CBC was largely normal. And then looking at celiac labs, he did have a gliadin IgG that was slightly elevated at 15. And looking at his bone age of the hand and wrist was grossly normal. And then like you said, because of the murmur, we did a echo or sent out for an echo, which was normal as well. The TSH was also normal at 1.46. And we did insulin growth factor, binding protein 3, which was normal at 1.44 and an insulin-like growth factor, which was normal at 33. And then I forgot to mention his ESR was normal as well at eight.
Dr. Bryan Fate: So it sounds like we have two concerning findings. One for rickets potentially and one for a elevated gliadin IgG, concerning for celiac. So, I think the history does fit the rickets picture based on what we’ve talked about. We don’t see it very often, certainly given all of the nutrients that are packed into breakfast cereals, et cetera. But certainly his limited dietary intake could be contributing to that as well as prolonged breastfeeding. And then the celiac piece, you could think about it being contributory to rickets if he had inflammation of his ileum where vitamin D is absorbed, then that would make it harder to reabsorb vitamin D. So it doesn’t really fit nutritionally deficient rickets with celiac on top of that, but two things happen at once sometimes. So tell me more about what happened next Mary, and what the conclusion of the case was.
Dr. Mary Meehan: Yeah, so in conclusion with that vitamin D level being so low at 9.6, we reached out to our endocrinology colleagues who recommended starting right away high dose vitamin D and calcium. And then for that celiacs piece, we spoke with gastroenterology as well, who did want to do an endoscopy which resulted as normal.
Dr. Bryan Fate: So no celiac.
Dr. Mary Meehan: No celiacs.
Dr. Bryan Fate: Okay. I think for rickets you can really go down a wormhole of feedback cycles, which everyone except for endocrinology has to look up and check themselves on. But I do think pointing out that the phosphorus is a crossroads for rickets too. If you’re a phosphorus, it can be normal or low with the hypocalcemic form of rickets, which is in this case we are presumed to be dietary in cause. But if the phosphorus is really, really low, we’d want to think about genetic causes like X-linked hypophosphatemic rickets. I have a couple kids with that and that would totally change the management. And then for follow-up, we would typically want to check labs about every month. So rechecking the PTH, the alk phos, the calcium phosphorus, and then actually a urinary calcium to creatinine ratio, which should gradually go up as our calcium stores are replete.
But just putting in the plug that if user-friendly endocrinologist down the block, and if phos is really low, we should think about unusual genetic causes. And then certainly if we were reliably taking our supplemental vitamin D and calcium and the numbers just weren’t budging, we’d also think about more unusual causes of rickets such as a Alpha-1, hydroxylase deficiency where we can’t make that active form of vitamin D, so we’d want to get a 125 vitamin D as opposed to just a 25.hereditary resistance to vitamin D so there are different flavors of rickets if we don’t respond appropriately. Any updates on how our playful and still chubby and robust 16 month old is doing too Mary?
Dr. Mary Meehan: I believe it took them a little bit of time to get started on the calcium and vitamin D, so we don’t know too much, but we’ll know more once we get them back into clinic and repeat some of the lab work.
Dr. Bryan Fate: Fabulous. Perfect. Well we have cracked another case. So thinking about faltering linear growth velocity, keeping nutritional rickets on your differential, especially for kids who have had prolonged breastfeeding, limited vitamin D supplementation and more limited dietary intake of other foods containing calcium and vitamin D. So Mary, if you had a couple take home points, what would they be today?
Dr. Mary Meehan: So take home points. The first point being that deceleration and linear growth velocity is more concerning than absolute tracking on height curves. Two, use weight as a crossroads for building a differential when considering height concerns, particularly robust weight considering isolated endocrinopathies more strongly and poor weight, more systemic disease processes. And three, consider rickets in a toddler with prolonged breastfeeding, more limited table food and cow’s milk consumption who did not receive early vitamin D supplementation.
Dr. Bryan Fate: Fabulous. Hopefully our 16-month-old is getting vitamin D and the calcium that he needs and will be a six feet tall child. I’m also going to put the plug in as a shorter person, that height is a culturally defined thing and there’s a more value laden piece to how tall we should be, that I think is interesting to think about, especially when families pursue things like growth hormone when you’re healthy and just a shorter person. And it is kind of more entrenched in cultural norms than some other topics in medicine. So I have come to appreciate my shortness in time. That said, till it’s time to crack another case, a musical number to engage the emotive side of your brain and hopefully tug at your heartstrings.
Dr. Angela Kade Goepferd: Thank you for joining us for Talking Pediatrics. Come back for a new episode with our caregivers and experts in pediatric health. Our executive producer and showrunner is Ilze Vogel. Episodes are engineered, produced, and edited by Jake Beaver. Amie Juba is our marketing representative. For more information and additional episodes, visit us at childrensmn.org/talkingpediatrics, and to rate and review our show, please go to childrensmn.org/survey.