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 and joined the MJH Life Sciences team in December 2019. She graduated from Youngstown State University in 2019 with a bachelor's degree in journalism and a minor in political science. Prior to graduating, Morgan worked as the editor-in-chief of her college newspaper. She went on to work as an assignment editor at a broadcast news station in Youngstown, Ohio before joining 

 You can reach her at mpetronelli@mjhlifesciences.com.

Articles

. He joined the brand in March of 2023 as an editor before being promoted to senior editor in January 2024. Fitch graduated from Youngstown State University in Youngstown, Ohio in 2020 with a degree in telecommunications and journalism. He started his career as a news and sports videographer before becoming an on-air sports anchor at the NBC-affiliated news station in Youngstown. Fitch briefly worked as a national content writer for a Chicago-based national television station before joining the 

team. He can be reached at: jfitch@mjhlifesciences.com.

Many families face common potty training challenges, including anxiety and setbacks, highlighting the need for patience and personalized strategies.

Study: Potty training challenges common, with anxiety and setbacks affecting many families

Achieving the primary endpoint, 44.6% and 54.3% of patients treated with upadacitinib (15 mg and 30 mg) reached 80% or more scalp hair coverage.

Alopecia areata data: Upadacitinib demonstrates improvements in scalp hair coverage

Nektar Therapeutics remains on track to announce top-line phase 2 data in December. 

FDA grants fast track to rezpegaldesleukin for severe alopecia areata in ages 12 and up

Pegcetacoplan (Empaveli; Apellis Pharmaceuticals) is indicated for patients 12 years or older to reduce proteinuria.

FDA approves pegcetacoplan as first treatment for C3 glomerulopathy or IC-MPGN

Contemporary Pediatrics connects pediatricians with peer-reviewed articles, guideline updates, and practice strategies for real-world clinical application.

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Authors

The authors describe the case of a 2-year-old girl with severe persistent asthma whose disease management was complicated by this rare clinical diagnosis.

Asthma Therapy Complicated by Peters Plus Syndrome

**Editor's Note** Please note that starting January 1, 2025, we will be switching to an online-exclusive publication process. This will allow us to publish case submissions quicker without having to deal with the variables that come along with print publication. All cases will still be eligible for print publication consideration, but publication in our print magazine is not guaranteed and will be up to the editor's discretion. 

Do you have a puzzling pediatric case that you’d like to share with the readers of 

We are looking for intriguing diagnoses that have stumped the experts—a diagnostic “Puzzler”—to help our physicians enhance their day-to-day practices. If you have such a story to tell, tell us.

Here’s what to do: Before you begin, we suggest that first you review the Puzzler 

https://www.contemporarypediatrics.com/case-studies

. Please note the specific style required for writing Puzzler manuscripts.

Next, prepare a draft of your case, including a summary of the presenting symptoms, a case overview, a 

table of the differential diagnosis (MANDATORY)

, and the special aspects of your case that qualify it as a Puzzler, and send it to us. Please note that the differential diagnosis table should also be discussed in the body text. We’ll review your draft and let you know what you need to add or revise before we send the manuscript to peer review for evaluation.

Puzzlers vary in length, and we suggest a minimum of 1,200 words up to a maximum of 2,000 words, but that is because of the complexity of some cases and whether some patients returned for many assessments before their diagnoses were determined. Also, some authors describe the pathophysiology of the differentials in great detail. Please also note no more than 3 authors are allowed per article.

What's most important is to show us the process that you used to analyze the case, including:

Why you decided to order certain tests and why you did not order others.

Peer consultations or why you elected to contact other specialists.

Lab values including vital signs or blood tests.

Labs and values if your patient was attended to in the emergency department or other hospital departments such as radiology or neurology.

Discussion related to the possible diagnoses.

Final diagnosis, treatment, prognosis, and follow-up.

Remember to indicate numbered citations within the body of the text and include a complete list of corresponding literature/references at the end of the manuscript. (Do not use any citation management programs or unlink them.) 

Limit references to 25. No references (unless it is a seminal study) can be older than 10 years.

We prefer primary research as references, but some cases are so obscure that authors will need to pull from a variety of sources. However, 

. Be advised that peer reviewers are adamant that the disease/disorder you describe was actually diagnosed and not determined by index of suspicion on the basis of ruling out various differentials. We use AMA11 as our publication style, which uses superscript citation numbers and a corresponding numbered reference list. Please create your citations and references in this style.  Check this recent article posted online at 

https://www.contemporarypediatrics.com/view/the-rx-of-adhd

 for examples of reference style. IMPORTANT NOTE WITH AMA 11TH EDITION: PLEASE PUT DOI OR WEBSITES/URLS AT THE END OF THE REFERENCE LINE.

When you send your draft manuscript, also 

. These image files must be high-resolution jpg or tiff files (minimum of 300 dpi) and as large in size as possible. We suggest a minimum of 7 horizontal inches. The images must be original photos with clear permissions to use, not images from copyrighted sources. Send as separate attachments with your e-mail submission; do not embed images into your manuscript document.

After we receive your manuscript, our editors and peer reviewers will review your draft and let you know if we accept your submission for publication. 

Puzzler is one of the departments for which we receive the most submissions, so it may be several months after submission before you receive feedback from us.

If we do accept your submission for publication, we will contact you with further instructions.

Send your submissions in Microsoft Word format to 

, via e-mail to mpetronelli@mjhlifesciences.com

Guidelines for PUZZLER, Contemporary Pediatrics

 poll. Take a look at the following case below. After reading through the description, choose a multiple-choice answer and try to guess the correct patient diagnosis.

This case was presented by Giridhar Guntreddi, MD, FAAP, FAPHM; Achuth Jayasankar Kondoor; Taylor Boske; Neelima P. Theella, MD; and Jayasree Vasudevan Nair, MD, MPH, FAAP. 

A healthy 12-month-old girl presented with one small skin lesion over the right heel (

) for one month. On examination, her right lateral heel showed a round, white, pearl-like, hard, tiny lesion with a smooth appearance without any redness or itching. The patient's mother denied any pain, swelling, itching, or fever. No significant travel, bites, or heel-stick injuries were reported in the history. No systemic symptoms suggested any underlying systemic diseases. The infant is closely monitored at subsequent well visits and rechecked. After 3 months, the child showed full resolution of the skin lesion over the heel area (

Below, take your best guess at diagnosing this patient.

click here for the full case presentation, differential diagnosis, and correct patient diagnosis. 

Can you diagnose this patient? Take our poll and find out! Then check back for the full case, differential diagnosis, and correct diagnosis.

News

Case Studies

Diagnose this infant with an asymptomatic pearl-like nodule on the heel

Suzanne Hollander, MS, RD, LDN and Timothy Tramontana, MD offer thoughts on the newly FDA-approved sepiapterin for PKU.

WATCH: Experts react to the FDA approval of sepiapterin to treat PKU

FDA approved PTC Therapeutics' sepiapterin (Sephience) 

to treat adult and pediatric patients with phenylketonuria (PKU). Sepiapterin is now the third FDA-approved medication for lowering blood phenylalanine (Phe) levels and can be used alongside a Phe-restricted diet to expand protein tolerance in individuals with sepiapterin-responsive PKU.

"This is a really exciting time in PKU, with a new treatment coming out," said Suzanne Hollander, MS, RD, LDN, metabolic dietitian at Boston Children’s Hospital. "Sepiapterin is an oral Phe-lowering medication just recently approved for PKU in individuals of all ages. For individuals with PKU, historically, standard-of-care treatment has included a protein-restricted diet with low phenylalanine formula. More recently, there have been 2 Phe-lowering medications available on the market. These previous 2 medications and the diet do not always sustainably work for everyone to keep their Phe level within the target treatment range. That target treatment range is less than 360 µmol/L."

FDA approval follows the phase 3 APHENITY trial, in which sepiapterin demonstrated potential benefits such as increased dietary protein intake and reduced reliance on PKU-specific formula.

"Sepiapterin will become the third FDA-approved Phe-lowering medication. The approval is exciting because it offers an additional Phe-lowering option, and it may be appropriate for some people who have not achieved their treatment goals with the other 2 available medications and/or with the PKU diet," Hollander said.

For metabolic care teams, the approval introduces new considerations for treatment planning. "Many individuals will still require a phenylalanine-restricted diet alongside this therapy. However, sepiapterin does offer a Phe-lowering effect that could allow individuals to liberalize their diet and eat more dietary phenylalanine and more dietary protein. For some people, it may lower their blood phenylalanine level enough that they could receive all the dietary protein they need from food, allowing them to discontinue use of the phenylalanine-restricted PKU formula. Anytime people on a restricted diet can liberalize their protein intake, it is a huge win."

Timothy Tramontana, MD, medical and biochemical geneticist at Cleveland Clinic Foundation, emphasized the broader impact. "The added benefit is that we currently have a drug called sapropterin, which we have been utilizing for a long time under the brand name Kuvan. Sepiapterin provides an alternative treatment to this, hopefully helping patients with extremely diminished levels of phenylalanine hydroxylase, the enzyme affected in this disorder. It is thought that patients even with null mutations or mutations that may be leaky—meaning there may be minimal to almost no enzyme—may benefit from this treatment. The drug has a chaperone effect; it can help with the conformation of the enzyme, which may be affected. Those with almost no enzyme activity may actually see benefit from it in reducing their phenylalanine levels compared with a drug like sapropterin or Kuvan." 

"It goes hand in hand; the approach has always centered on diet, with pharmacologic management as an adjunct to hopefully help liberalize diet. That approach has helped a number of people through the use of sapropterin and now with sepiapterin. The hope is to expand the number of patients who may be able to liberalize their diet and increase their protein intake. That is our goal for most of our patients: to help them live a more normal life in terms of intake. It may never be 100% protein unrestricted, but the hope is to liberalize it enough to allow increased intake," Tramontana added.

Both experts encouraged primary care providers to support continued specialty care. "For general practitioners working with individuals with PKU, we absolutely want you to encourage individuals with PKU in your practice to come to a PKU clinic, which may also be referred to as a metabolism or metabolic clinic. Even if someone has been away from clinic for many years, we always welcome people back so they can be made aware of these new treatment options," Hollander said. 

"We are excited that there is another drug on the horizon that can help our patients live a more normal life and increase their protein intake," Tramontana added. "That is always exciting. General providers need to be aware that there are treatments available and should enlist the help of a biochemical geneticist. We work hand in hand with metabolic dietitians who are integral to the team and the management of these patients. Knowing that a new treatment may help patients further liberalize their protein intake is going to be important," Tramontana said.

Suzanne Hollander, MS, RD, LDN; and Timothy Tramontana, MD, offer thoughts on newly FDA-approved sepiapterin for PKU. 

Then, visit our website on July 9, at 12:00 PM EST or later for the full case presentation, differential diagnosis, and correct patient diagnosis. 

This case was provided by Drashti Patel, BS, BA, and Jyoti Budania, MD.

In November 2023, an otherwise healthy 11-year-old boy presented to the clinic with the chief complaint of testicular discomfort. He reported mild testicular pain that worsened with physical activity, and he denied the presence of dysuria, urinary urgency, or frequency. He was recently evaluated by ENT for an episode of epistaxis, which was benign and resolved without requiring cauterization. His medical history was otherwise unremarkable, notable only for molluscum contagiosum at5 years of age and a few episodes of streptococcal pharyngitis and otitis media.

His vital signs in clinic were within normal limits, and the only additional finding at this time was a nontender, nonpruritic, and nonpalpable petechial rash on the bilateral lower extremities. His mother observed that the rash appeared to fluctuate with his activity level, worsening during periods of increased stress or activity.

Given the presence of petechiae, an initial workup was initiated, including a complete blood count (CBC), comprehensive metabolic panel (CMP), prothrombin time (PT), and partial thromboplastin time (PTT). A point-of-care urinalysis performed in the clinic revealed traces of blood in the urine. The patient appeared well and did not show any other signs of illness. He was diagnosed with viral epididymitis while pending laboratory results. He was advised to remain hydrated and to return for follow-up if his symptoms persisted or worsened. His mother agreed with this plan and committed to closely monitoring his rash.

Over the following week, he returned to our clinic. His rash had progressed, spreading to his thighs, buttocks, and the distal shaft of his penis. All of his previous labs were within normal limits, and additional workup was initiated, including a platelet function assay and measurements of serum IgA, C3, and C4 levels, along with a repeat urinalysis.

Below, take your best guess at diagnosing this patient

Idiopathic thrombocytopenic purpura (ITP)

Now, click here for the full case presentation, differential diagnosis, and correct patient diagnosis. 

Thank you for taking this Contemporary Pediatrics poll! Want more puzzler case studies?

Can you diagnose this 11-year-old with a petechial rash?

On July 28, 2025, the FDA approved PTC Therapeutics' sepiapterin (Sephience) to treat adult and pediatric patients with phenylketonuria (PKU), including all age groups and the full spectrum of disease subtypes, according to a press release from PTC. Additionally, the approval includes broad labeling to treat hyperphenylalaninemia (HPA) in patients 1 month or older with sepiapterin-responsive PKU.

"We are excited to have reached this important milestone for those affected by PKU," said Matthew B. Klein, MD, CEO of PTC, in a press release. "The broad labeling reflects the potential of [sepiapterin] to meet the significant unmet need of patients [with] PKU. The [sepiapterin] clinical data, along with our expertise in launching rare disease therapies, positions [sepiapterin] to become the future standard of care. Our experienced customer-facing teams are ready to bring this therapy to children and adults with PKU in the United States as quickly as possible." 

“Without treatment, individuals with PKU would have very high blood Phe levels, and high blood Phe levels are a toxin to the brain, so that results in neurocognitive deficits and mood disorders," Suzanne Hollander, MS, RD, LDN, a metabolic dietitian at Boston Children’s Hospital 

PKU is typically diagnosed shortly after birth through newborn screening, and treatment begins immediately. The goal is to keep blood Phe levels under 360 µmol/L. 

In March, PTC announced new data from the phase 3 APHENITY trial, which ultimately led to approval from the FDA.

According to the company, key findings included

Over 97% of participants in the Phe tolerance protocol of the APHENITY open-label extension study demonstrate the ability to liberalize their diet while on sepiapterin treatment, with a mean increase in protein intake of 126%. 

A total of 66% of participants in the Phe tolerance substudy reached or exceeded the age-adjusted recommended daily allowance of protein intake for an individual without PKU while maintaining control of blood Phe levels.

Genetic variant analysis of participants in the APHENITY study demonstrates that over 70% had a genotype-phenotype value consistent with classical PKU. 

"From a dietary standpoint, the study was really exciting because we did a Phe tolerance assessment,” said Hollander. “For individuals who had their Phe level lowered with the medication to less than 360 [μmol/L], they were able to participate in a portion of the study where we systematically monitored their Phe levels and then increased their dietary or natural protein. Overall, participants saw a 126% increase in natural protein intake and a 50% reduction in their use of medical formula, a meaningful outcome given the burden the formula places on children and families."

WATCH: PKU and the pediatrician with Suzanne Hollander, MS, RD, LDN

"The approval marks an exciting milestone for the PKU community," said Catherine Warren, executive director of National PKU Alliance, in a statement. "This progress brings renewed hope, and we are eager to see the positive impact this new treatment option will have on advancing care and potentially improving quality of life for individuals of all ages and PKU subtypes who respond to this therapy."

Sepiapterin is to be used in conjunction with a Phe-restricted diet, with the aim of liberalization to allow for an increase in protein.

"[Sepiapterin and a Phe-restricted diet will go] hand in hand. The approach has always centered on diet, with pharmacologic management as an adjunct to hopefully help liberalize diet," Timothy Tramontana, MD, medical and biochemical geneticist at Cleveland Clinic Foundation, told 

. "That approach has helped a number of people through the use of sapropterin and now with sepiapterin. The hope is to expand the number of patients who may be able to liberalize their diet and increase their protein intake. That is our goal for most of our patients: to help them live a more normal life in terms of intake. It may never be 100% protein unrestricted, but the hope is to liberalize it enough to allow increased intake," said Tramontana.

PTC Therapeutics announces FDA approval of Sephience (sepiapterin) for the treatment of children and adults living with phenylketonuria (PKU). Press release. PTC Therapeutics. July 28, 2025. Accessed July 28, 2025. https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-announces-fda-approval-sephiencetm-sepiapterin

PTC Therapeutics announces FDA target regulatory action date for sepiapterin and Lancet publication of phase 3 trial results. Press release. PTC Therapeutics. October 14, 2024. Accessed July 25, 2025. https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-announces-fda-target-regulatory-action-date

Fitch J. PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN. 

. May 7, 2025. Accessed July 25, 2025. https://www.contemporarypediatrics.com/view/pku-and-sepiapterin-data-with-suzanne-hollander-ms-rd-ldn

“Without treatment, individuals with PKU would have very high blood Phe levels...so that results in neurocognitive deficits and mood disorders," Suzanne Hollander, MS, RD, LDN, said.

Cynthia Katz, MD

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