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. 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.

Articles

Jay T. Rubinstein, MD, PhD, highlighted promising CHORD trial data showing that DB-OTO gene therapy has led to hearing improvements in treated participants. 

Jay Rubinstein, MD, PhD, explains DB-OTO gene therapy in children with profound hearing loss

An overview of commercially available infant cardiorespiratory monitors and pulse oximeters in the home.

Smart infant monitors: a pediatrician’s guide

After 9.5 months, 94% of participants reported an improvement in incontinence symptoms, with 58% experiencing complete resolution and 18 (36%) reporting greater than 50% reduction in the number of accidents. 

Botulinum toxin is helpful in refractory NE

The newly-approved indication is for children aged 4 years and older who weigh 33 < 66 lbs, expanding on the August 9, 2024 approval in children at least 66 lbs. 

FDA approves neffy 1 mg for anaphylaxis in children aged 4 years and older

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Skiing is an enormously popular winter sport for children, teenagers, and families. Here's a review of winter sports injuries and how to provide the best care.

Kid care on the slopes

**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. 

 on Monday, February 24, 2025 at 10:00 PM ET or later for the full case presentation, differential diagnoses, and the correct patient diagnosis. 

This case was provided by Irene Chern, MD, Aimee Johnson, MD, and Dana Toib, MD.

A 6-day-old male with history of waxing and waning urticarial rash presents to the general pediatrician’s office for evaluation. The parents describe the rash as red, raised skin lesions that become flat and congregate, lasting several hours to days, resolving without leaving marks and then appearing in new areas. The rash began shortly after birth, and it does not seem to bother the patient. The parents deny any other concerns, including vomiting, fever, joint swelling, oral ulcers, or irritability. The patient is breastfeeding well and has normal urination and bowel movements.

On review of the nursery notes, it appears that at 9-hours of life the patient developed a rash that started as small, blanching, erythematous, circular macules on the legs; gradually increasing in size and number; becoming raised and coalescing to large, diffuse patches on the legs, back, chest, face, and soles that resolved within several hours. The patient was born to a 30-year-old gravida 1 mother at 40-weeks gestation via spontaneous vaginal delivery. The parents are without consanguinity or family history of autoimmune or inflammatory diseases. The pregnancy was complicated by maternal hypothyroidism and group B Streptococcus positive status, with the mother adequately treated with levothyroxine and intrapartum antibiotics.

Neonatal Onset Multisystem Inflammatory Disease

Click here for the full article featuring the complete case presentation, differential diagnosis, and correct patient diagnosis.

For more puzzler case studies, click here.

Can you diagnose this patient in our most recent puzzler poll? 

News

Case Studies

Puzzler poll: Urticarial rash in a 9-hours-old male 

 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?

“In some cases, that meant that we could actually go after the primary pathology or the primary cause of the condition in a way that we never would have thought of before."

Benefits of genetic sequencing for cerebral palsy patients

Cerebral palsy (CP) has long been viewed primarily as a condition arising from environmental factors such as birth complications or infections. However, emerging research underscores the significant role of genetics in CP cases, leading to shifts in both diagnosis and treatment approaches. Michael C. Kruer, MD, a pediatric neurologist and human geneticist at Phoenix Children’s Hospital, emphasized the evolving understanding of CP genetics and its implications for clinical care.

“Pediatricians, you know, inevitably find themselves to be the primary advocates for the kids they look after. They're really the gatekeepers for access to specialists,” Kruer explained. With growing evidence supporting the genetic origins of CP, he urges primary care providers to consider genetic evaluations. “CP can, but often has a genetic cause,” he stated, stressing that recognizing this fact is essential for patient advocacy and informed medical decision-making.

A recent study co-authored by Kruer and published in 

 analyzed multiple published cohorts to reassess the genetic basis of CP. The findings were striking: 

“In our study, about 27% of the nearly 2,000 CP patients who underwent exome sequencing had an identifiable genetic cause for their CP." This result aligns with previous research indicating that approximately 1 in 4 individuals with CP have a genetic explanation for their condition. 

The study also explored the clinical impact of these findings.

“Now the follow-up question was, 'well, does this change anything for that person's care,' not, 'you know, some point in the future, but right now,'” Kruer remarked. 

“We found that roughly about 1 in 4 individuals that had an identified genetic cause for their CP, or those folks, it actually prompted a change in their care” .

These changes in care manifested in several ways. 

“In some cases, that meant that we could actually go after the primary pathology or the primary cause of the condition in a way that we never would have thought of before,” Kruer explained. “As we know, for CP care and a lot of medicine, it's still very much a guess-and-check world,” he added. 

Genetic findings, however, are now helping clinicians tailor treatments more effectively: “The genetic findings would help that clinician to reach for the best treatment first." 

The study found that among 1841 patients with CP who underwent exome sequencing, 502 (27%) had pathogenic or likely pathogenic variants. Furthermore, 8% had genetic findings classified as actionable, meaning they could lead to immediate changes in clinical management.

Actionable findings were categorized into 3 groups: interventions targeting the primary disease mechanism, prevention strategies, and symptom management, with 71% of potential interventions deemed to have moderate-to-high safety and practicality. 

As research continues to illuminate the genetic underpinnings of CP, genetic testing is poised to become a critical component of CP diagnosis and management, offering tangible benefits for both patients and providers. 

Lewis SA, Chopra M, Cohen JS, et al. Clinical actionability of genetic findings in cerebral palsy: a systematic review and meta-analysis. 

 2025;179(2):137-144. doi:10.1001/jamapediatrics.2024.5059

"Vaccines are our absolute best defense for protecting people of all ages against many serious infectious diseases," Tan said in a statement as president of IDSA. 

Tina Tan, MD, on ACIP meeting postponement, public vaccine information reports

' editor-in-chief, Tina Tan, MD, FIDSA, FPIDS, FAAP, is also the president of the Infectious Diseases Society of America (IDSA), a community of over 13,000 physicians, scientists and public health experts who specialize in infectious diseases.

According to IDSA's website, the society's purpose to improve the health of individuals, communities, and society by promoting excellence in patient care, education, research, public health, and prevention relating to infectious diseases.

On February 21, 2025, Tan, in her capacity as president of IDSA, made a statement based on reports of the CDC stopping an influenza vaccination campaign and the potential removal of publicly-available vaccine data.

In addition, Tan commented on the postponement of the CDC's Advisory Committee on Immunization Practices (ACIP) meeting, originally—slated to begin on February 26, 2025—with a make-up date to be determined.

"Reports that the Centers for Disease Control and Prevention has been ordered to remove public information on vaccines, including information encouraging people to get vaccinated against flu, leaves Americans with fewer tools to make critical decisions in consultation with their doctors to protect themselves and their families," the statement read in part.

"Postponing a meeting of the Advisory Committee on Immunization Practices delays vital discussions and needed decisions on a variety of vaccines by trusted and well-vetted experts," said Tan.

conducted the above interview with Tan, in which she stated the role of the ACIP is crucial, in that it is the committee's recommendations that can lead to implementation of newly FDA approved vaccines, such as GSK's meningococcal vaccine MenABCWY (Penmenvy).

which was approved by the FDA on February 14, 2025

, was set to be one of the topics of the now postponed ACIP meeting. The approval is indicated for use in individuals aged 10 to 25 years.

“If the committee is not able to meet and discuss the evidence for the use of these vaccines, then these vaccines cannot be recommended and cannot be used," said Tan in the interview.

"The FDA can approve a vaccine, but they don't make the recommendations for the use of the vaccines to the American public. It really is the CDC ACIP that comes out with those recommendations, and all this is based on very scientifically sound data,” added Tan. 

1. Mission & Values. IDSA. Accessed February 25, 2025. https://www.idsociety.org/about-idsa/mission-values/

2. Tan T. Statement on Removal of Vaccine Promotion and ACIP Meeting Postponement. IDSA. Press release. February 21, 2025. Accessed February 25, 2025. https://www.idsociety.org/news--publications-new/articles/2025/statement-on-acip-meeting-postponement-and-removal-of-vaccine-information/ 

3. Stone W. Trump administration yanks CDC flu vaccine campaign. NPR. February 20,2025. Accessed February 25, 2025. 
https://www.npr.org/sections/shots-health-news/2025/02/19/nx-s1-5302906/cdc-flu-vaccine-campaign-terminated 

4. ACIP Meeting February 26-28, 2025 Postponed. CDC. Accessed February 26, 2025. https://www.cdc.gov/acip/index.html 

Leslie Fishman, MD, MBA, FAAP

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