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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

Nearly 40% of children treated with roflumilast cream 0.05% achieved a 75% improvement in EASI-75. 

Roflumilast cream 0.05% demonstrates eczema area severity, itch improvement for pediatric atopic dermatitis

Irene Chern, MD, is a pediatric resident at St. Christopher’s Hospital for Children, Philadelphia, Pennsylvania.

On exam, the patient is found to have circular, slightly raised, blanching, erythematous papules on the lower extremities and abdomen. 

Full case study: Urticarial rash in a 9-hours-old male

Get caught up with Contemporary Pediatrics! This list helps you navigate our top stories from the week, all in one place.

Weekly review: MenABCWY vaccine commentary, clinician quiz and more

“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

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Authors

Aimee Johnson, MD, is a pediatrician at St. Luke’s University Hospital, Bethlehem, Pennsylvania.

**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

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

News

 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 one 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

 website on Monday, February 24, 2025, at 10:00 AM ET or later for an article featuring the full 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? 

Case Studies

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

 on Wednesday, January 29 at 12:00 PM ET for the full case presentation, differential diagnoses, and the correct patient diagnosis. 

This case was provided by Nicholas W. Kieran, MS and Annuradha Goel, MD.

A 14-year-old girl presented to her primary care office with 2 weeks of vomiting that began when she tried to eat breakfast. She said she was feeling well up until that point, but then developed sudden onset vomiting and constant, 7/10, non-radiating chest pain centrally located at about the level of the second rib that remained unchanged since onset and slightly worsened when trying to eat. 

She was able to take in liquids but vomited all food, despite having an appetite. She denied feeling the food get stuck in her throat and endorsed continued vomiting of meals within 2 minutes of eating. She denied blood in the vomit and denied any abdominal pain. 

Urination was unchanged, and stools, although infrequent because of a lack of eating, continued to have their normal consistency and color. The patient did endorse some mild shortness of breath. This started around the same time as the other symptoms, but did not find it very bothersome. Her last sexual encounter was 3 months prior to this visit, just prior to Nexplanon (etonogestrel implant) insertion. Her last menstrual period was 2months prior to the visit.

On review of systems, she did not endorse palpitations, syncope, lightheadedness. She had increased her vape use recently but did not disclose when she started or how much she vaped. She had no recent travel and had not identified any extremity swelling. She was unsure if she had lost weight but had not been trying to lose any.

website on Wednesday, January 29, 2025, at 12:00 PM ET or later for an article featuring the full case presentation, differential diagnosis, and correct patient diagnosis.

The patient had increased her vape use recently, but did not disclose when she started, or how much she vaped. 

14-year-old girl presents with chest pain, 2-week history of vomiting

 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?

Genetic research is revealing that up to 35% of cerebral palsy cases have an identifiable genetic cause, leading to earlier diagnoses and potential precision medicine treatments.

Michael Kruer, MD explains genetic testing and cerebral palsy

A recent meta-analysis, co-authored by Michael C. Kruer, MD, pediatric neurologist and human geneticist at Phoenix Children's Hospital, sheds new light on the genetic underpinnings of cerebral palsy (CP) and the implications for diagnosis and treatment. 

Kruer and his team have been investigating the genetic basis of CP for over a decade.

“This study really has kind of built upon the work that my laboratory has been doing for the last 10 years or so,” he explained. Initially, their research aimed to answer a fundamental question: 

Can cerebral palsy sometimes have a genetic basis?

“I think we now know that the answer to that question is a firm yes,” said Kruer. “We know, in fact, that about around 25 to 35% of individuals with cerebral palsy will have a genetic cause for their symptoms at this point in time that we can detect." 

in December of 2024, systematically reviewed genetic findings in CP cases. Among 1,841 patients who underwent exome sequencing, 27% had pathogenic or likely pathogenic variants related to their CP phenotype. Additionally, 8% of individuals had genetic findings classified as actionable, meaning the results could lead to changes in clinical management, such as targeted therapies or preventative strategies.

Kruer emphasized that understanding the genetic origins of CP is crucial for affected families and medical professionals alike. 

“So, what difference does that make to families and individuals with CP? What difference does that make to the clinicians, the therapists, the physicians that care for them?” he asked. “We now know that we can reliably diagnose CP in at-risk infants as early as 6 months of age, or in the right context, even 3 to 4 months of age,” Kruer noted. This early detection can facilitate timely interventions, potentially improving long-term outcomes.

Aimee Johnson, MD

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