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Lori Handy, MD, MSCE, is an attending physician in the Division of Infectious Diseases, Children’s Hospital of Philadelphia; and associate director, CHOP Vaccine Education Center. 

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.

Lori Handy, MD, MSCE, emphasizes the role of school entry as a critical time for ensuring children are caught up on routine vaccinations.

Lori Handy, MD on importance of vaccine catch-up before the school year

Richard Wong, DO, pediatric pulmonologist, Phoenix Children’s, Phoenix, Arizona.

Pediatric pulmonologist Richard Wong, DO, outlines how school environments can complicate asthma management for children across all age groups.

Richard Wong, DO, explains challenges children with asthma face in school

Discover the latest in pediatric infectious diseases with Infectious Insights, a new podcast series hosted by expert Tina Tan, MD, FIDSA, FPIDS, FAAP.

Introducing Infectious Insights, a new pediatric infectious disease podcast

 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.

A new study aimed to determine mental health resilience in preterm-born children and identify modifiable factors associated with resilience. 

Improving mental health outcomes in children born preterm

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

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A declining circumcision rate means that more and more parents need to be educated about care of their son&s foreskin and that you need to be prepared to manage problems associated with an uncircumcised penis.

Caring for the uncircumcised penis: What parents (and you) need to know

**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

In this interview, Suzanne Hollander, MS, RD, LDN, discusses the importance of collaborative care in PKU and the impact of a new potential treatment.

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

As the phenylketonuria (PKU) community anticipates the potential FDA approval of a new treatment, Suzanne Hollander, MS, RD, LDN, senior clinical nutrition specialist at Boston Children's Hospital, says pediatricians and primary care providers have a critical opportunity to reconnect patients to care. 

“Pediatricians and primary care providers play a really important role in the healthcare and the lives of our kids with PKU,” said Hollander. “From the start, they are involved in referring those newborn screen cases to a metabolic center or a PKU clinic.” But over time, she explained, the burden of managing PKU through strict dietary restrictions can cause some patients, particularly adolescents and young adults, to disengage from follow-up care. 

“We see it often in later adolescence and adulthood,” she said. “Pediatricians and primary care providers can have a huge impact in referring those individuals back to the PKU clinic, where we'll have the opportunity to offer them new treatments.”

A potential treatment is sepiapterin, an investigational oral therapy that may significantly reduce blood phenylalanine (Phe) levels and allow for dietary liberalization. Sepiapterin has a Prescription Drug User Fee Act date of July 29, 2025, for potential approval from the FDA. 

“Sepiapterin is an exciting novel treatment,” Hollander said. “It works to lower levels of phenylalanine in the blood, which can improve clinical outcomes and also allow for individuals to eat more natural protein in their diet.” 

PKU is caused by a deficiency in the enzyme that converts phenylalanine to tyrosine. Sepiapterin acts by enhancing the function of that enzyme, thereby reducing blood Phe and potentially easing the restrictive dietary demands of the disorder.

Recent results from the APHENITY trial and its open-label extension showed that 97% of participants were able to liberalize their diet while on sepiapterin, with a mean increase in protein intake of 126% and sustained control of Phe levels.

, Hollander further discussed details from the APHENITY trial, noting that 84% of individuals reached a target range of less than 360. 

“In the PKU community, we're hearing a lot of excitement from people coming to the clinic and from families,” Hollander said. “So it's exciting to get the word out there—to both patients, the community, and other providers—that… we have this new data and that we can stay tuned for more details later.” 

1. PTC Therapeutics Presents New Sepiapterin Data from Ongoing Studies. PTC Therapeutics. Press release. March 20, 2025. Accessed May 8, 2025. https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-presents-new-sepiapterin-data-ongoing-studies 

2. Fitch J, Hollander S. PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN. Contemporary Pediatrics. May 7, 2025. May 8, 2025. https://www.contemporarypediatrics.com/view/pku-and-sepiapterin-data-with-suzanne-hollander-ms-rd-ldn

News

A review of the clinical potential of PTC Therapeutics' sepiapterin as a novel treatment for phenylketonuria (PKU). 

PKU and sepiapterin data with Suzanne Hollander, MS, RD, LDN

Phenylketonuria (PKU), a rare genetic disorder that affects the body’s ability to metabolize phenylalanine (Phe), can cause severe neurocognitive and emotional complications without strict treatment.

“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," said Suzanne Hollander, MS, RD, LDN, senior clinical nutrition specialist at Boston Children’s Hospital, in the above video interview with 

PKU is typically diagnosed shortly after birth through newborn screening, and treatment begins immediately. The goal is to keep blood Phe levels under 360 micromoles per liter, according to Hollander.

“The current standard treatment that we use for PKU is a phenylalanine-restricted diet,” she said. “We pair that with a phenylalanine-restricted medical formula that provides a lot of the nutrients that would otherwise be deficient in the protein-restricted diet alone. The diet is both logistically challenging and clinically challenging. Sepiapterin is an exciting novel treatment. It works to lower levels of phenylalanine in the blood, which can improve clinical outcomes and also allow for individuals to eat more natural protein in their diet. Getting to expand their diet really can alleviate the treatment burden that goes along with PKU," added Hollander. 

Sepiapterin enhances the function of the enzyme that converts phenylalanine to tyrosine, lowering Phe levels and potentially enabling greater diet liberalization.

“Overall, participants in the trial were able to lower their Phe levels, and 84% of individuals reached the target range of less than 360,” said Hollander, highlighting findings from the Phase 3 APHENITY trial. “That’s really meaningful, because historically, those individuals often do not respond to the current oral phenylalanine-lowering therapy that’s on the market.” 

These data were supported by recent findings presented at the 2025 ACMG Annual Clinical Genetics Meeting and shared by PTC Therapeutics, showing that over 70% of trial participants had a genotype consistent with classical PKU and still responded to treatment. 

“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, 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.

"Seventy-three percent of the patients doubled their phenylalanine intake, and 34% tripled it. So on an individual basis, people were really able to liberalize their diet quite a bit," Hollander stated in the interview. "Additionally, those who came into the study on the current Phe lowering medication, BH4, they were able to increase their Phe intake, 52% of them doubled their Phe intake beyond what they had tolerated on BH4 therapy alone."

The phase 3 APHENITY trial results were recently published in 

, and the FDA has assigned a Prescription Drug User Fee Act date of July 29, 2025, to review sepiapterin for potential approval. If approved, the treatment could represent a significant step forward in both metabolic control and quality of life for individuals with PKU.

1. PTC Therapeutics Presents New Sepiapterin Data from Ongoing Studies. PTC Therapeutics. Press release. March 20, 2025. Accessed May 6, 2025.https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-presents-new-sepiapterin-data-ongoing-studies 

2. PTC Therapeutics Announces FDA Target Regulatory Action Date for Sepiapterin and Lancet Publication of Phase 3 Trial Results. Press release. October 14, 2025. Accessed May 6, 2025. https://ir.ptcbio.com/news-releases/news-release-details/ptc-therapeutics-announces-fda-target-regulatory-action-date

A review of the clinical potential of PTC Therapeutics' sepiapterin as a novel treatment for phenylketonuria (PKU).

 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 Vasudevannair, MD MPH FAAP. 

A healthy 12-month-old girl presented with one small skin lesion over the right heel (Image 1) 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, 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 re-checked. After 3 months, the child showed full resolution of the skin lesion over the heel area (Image 2).

Below, take your best guess at diagnosing this patient.

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

Case Studies

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

 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.

on Monday, January 6 at 12:00 PM ET for the full case presentation, differential diagnoses, and the correct patient diagnosis. 

This case was provided by Amar Davé, MD, FAAP and Pahroul Davé, APRN

A boy aged 10 years presented to the outpatient office with a history of painful nodules on the plantar surface of his bilateral feet 8 to 10 hours after spending time in a hot tub. He was unable to bear weight or put on socks and shoes due to his pain. The photos were taken soon after the painful and red papules appeared. The lesions affected the whole plantar aspect of both feet. Over the following 4 days, the nodules became less painful and red. 

Medical advice was sought on the fifth day of symptoms, and by this time, the child was improving clinically. He was stable with subcutaneous, mildly painful, fleshy nodules mostly populating the medial arch of the foot. His remaining clinical examination results were within a normal range. Further questioning of the child’s mother revealed that other children exposed to the hot tub experienced painful feet but without lesions. 

Due to the patient’s improving symptoms and the self-limiting nature of the illness, no tests or labs were ordered as the child was not acutely ill. No peer consultations or specialists were utilized.

Click here for the full case presentation, differential diagnoses, and the correct patient diagnosis, in a separate article.

The photos in this case were taken soon after the painful and red papules appeared.

Can you diagnose this boy with painful nodules on his feet?

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.

John S Wiener

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