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Colleen Sloan, PA-C, RDN is a board-certified PA and registered dietitian. 

Articles

While these concerns are often rooted in misinformation, they offer an opportunity to guide families back to the evidence.

Talking to parents about seed oils

. 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.

“Data from the Phase 3 ICONIC LEAD subgroup analysis demonstrate impressive efficacy rates, showing the promise of this novel therapeutic option," said Lawrence Eichenfield, MD. 

JNJ-2113 for plaque psoriasis demonstrates clear skin in 75% of adolescents

 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.

Two-thirds of US teen girls live in states with abortion bans, gestational limits, or parental involvement laws, limiting access to care.

Most US teen girls live in states with abortion limits

, is a family nurse practitioner at Drexel University College of Nursing and Health Professions in Philadelphia, Pennsylvania.

The World Bank Group reports that as this global health emergency escalates, devastating impacts on health and well-being will also accelerate. 

Climate change: Challenges faced by the pediatric population

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Authors

In this expert Q&A, Julie Sherman, PhD and Jay Tarnow, MD briefly discuss the latest research findings on ADHD.

What Are Common Comorbidities in ADHD?

**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 Wednesday, March 26, 2025 at 12:00 PM ET or later for the full case presentation, differential diagnoses, and the correct patient diagnosis. The full case will be presented as a separate article on our home page.

This case was presented by Ngozi I. Eboh, MD, FAAP, FHM, Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock, Texas

A 13-year-old female with a history of iron deficiency anemia presented with altered mental status preceded by 5 days of headache, vomiting, nausea, and worsening somnolence that was not responsive to flumazenil, naloxone, or ammonia salts. She had a Glasgow coma scale of 12 and was drowsy with no cranial nerve deficits, or other abnormal physical examination findings. Laboratory evaluation showed microcytic anemia (hemoglobin 7.7 g/dL and MCV (mean corpuscular volume):64.7, lymphocytosis, and mildly elevated liver enzymes [Aspartate Aminotransferase (AST) 52, Alanine Transaminase (ALT) 110] otherwise her electrolytes and kidney function were normal. 

Urine toxicology, Tylenol level, Salicylate level, alcohol level thyroid studies, iron studies, hepatitis panel were normal. Urine pregnancy and COVID tests were negative. Head computed tomography (Head CT) showed mild hydrocephalus, and brain magnetic resonance imaging (MRI) showed increased signal folia and compression of the lower portion of the fourth ventricle and foramen of Magendie. 

She then had an emergency external ventricular drain placed (EVD) by pediatric neurosurgery, and the team started her on high-dose steroids and intravenous immunoglobulin (IVIG). On the third day of admission, she developed new onset left-sided facial drooping, drooling, downbeat nystagmus, and difficulty following commands. An emergent subcortical craniectomy and decompression, duraplasty, and cerebellar biopsy were performed. A cerebellar biopsy was performed due to findings on brain MRI.

Click here for the full case presentation, differential diagnoses, and the 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

Poll: Can you diagnose this 13-year-old female with altered mental status?

 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?

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. The mother and the patient both have O-positive blood type with negative antibody screen. All other prenatal labs were unremarkable, there were no perinatal complications, and all routine newborn screens were normal.

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

). The patient appears well hydrated and has normal vital signs. Laboratory tests are obtained showing thrombocytosis (platelet count of 560x10

/L]]) with an otherwise unremarkable CBC, borderline elevated ESR of 15mm/hr (reference range, 3-13 mm/hr), elevated CRP of 0.74mg/dL [7.4 mg/L] (reference range, <0.2mg/dL [<2.0 mg/L]) and normal complete metabolic panel. ANA and Sjogren antibodies (SSA and SSB) are negative.

While rashes are extremely common in the newborn period, it is of critical importance to be able to differentiate between benign causes of neonatal rash and causes that may be indicative of more serious pathology such as an infectious or autoimmune process (

In this case, the waxing and waning, migratory rash, raised initial suspicion for erythema toxicum; however, erythema toxicum most often presents at 2 to 3 days of life and this rash was first noted at 9 hours of life. The urticarial-like appearance also raised concern for an allergic reaction, although it seemed very unusual in this age group. The thrombocytosis and elevated inflammatory markers raised concerns for a non-benign etiology, but neonatal infections were less likely given the overall well appearing neonate. The general pediatrician suspected an immune mediated process such as neonatal lupus. Further literature search for etiologies of neonatal urticaria also raised concerns for an autoinflammatory disease, prompting a rheumatology consult.

With concern for a Cryopyrin Associated Periodic Syndrome, specifically Muckle Wells syndrome and/or Neonatal Onset Multisystem Inflammatory Disease (NOMID), genetic testing is obtained (Invitae Periodic Fever Syndromes Panel) demonstrating D303G mutation in the 

 gene. Based on the genetic mutation and clinical presentation, the patient is diagnosed with Neonatal Onset Multisystem Inflammatory Disease (NOMID), an IL-1 mediated autoinflammatory disease which is part of the Cryopyrin Associated Periodic Syndromes.

NOMID (also known as CINCA; Chronic Infantile Neurological Cutaneous and Articular syndrome) is a rare periodic fever syndrome associated with significant morbidity that increases with diagnosis and treatment delays. It is the most severe and rare form of the Cryopyrin Associated Periodic Syndromes (CAPS), with an estimated total of around 100 cases described in the literature. Around 50-65 percent of NOMID cases result from de novo mutations.

 CAPS are a set of autoinflammatory conditions characterized by chronic systemic inflammation caused by abnormal regulation of the innate immune system; this spectrum affects 1-2 persons per 1 million.

 The less severe forms of CAPS include Familial Cold Autoinflammatory Syndrome and Muckle-Wells Syndrome.

NOMID is a subtype of CAPS caused by a gain-of-function mutation in the gene encoding NLRP3 (cryopyrin) protein.

 This mutation results in an increase in the activity of NLRP3 protein which functions as a danger sensor and undergoes activation in response to Pathogen-Associated Molecular Patterns (PAMPs) and Danger-Associated Molecular Patterns (DAMPs).

 Once triggered, NLRP3 interacts with other intracellular proteins to form the cryopyrin inflammasome, a key player in IL-1β pathway activation. The gain-of-function mutation leads to uncontrolled release of IL-1β and an inappropriately increased innate immune response.

The presentation of NOMID includes multisystem involvement secondary to overactivation of the innate immune response. The most prevalent findings include fever, urticarial skin rash, and arthropathy of the large joints.

In addition, patients often develop characteristic facies including frontal bossing, increased cephalic index, and saddle-back nose. If left untreated, chronic unregulated innate immune system activation leads to sensorineural hearing loss;

 progressive chronic meningitis and increased intracranial pressure leading to developmental delay, intellectual disability, and seizures;

degenerative arthropathy with joint contractures;

 and AA amyloidosis leading to renal failure.

The evaluation of NOMID consists of laboratory and imaging studies to quantify the extent of disease involvement. The laboratory findings in NOMID patients may include leukocytosis, anemia of chronic disease, and elevation in acute phase reactants including ESR and CRP. Elevated cytokine levels and serum amyloid A levels may serve as more sensitive markers of disease activity. While non-specific, these laboratory findings can also be used to track disease activity.

 In addition, molecular analysis of the NLRP3 gene serves as the most specific laboratory test, although a significant portion of NOMID patients may have somatic mosaicism.

 Imaging studies should include skeletal imaging to assess for and quantify joint involvement. In addition, brain MRI, EEG, and lumbar puncture can be useful in elucidating the extent of neurological involvement and verifying adequate disease control. As sensorineural hearing loss affects greater than half of NOMID patients

, baseline and routine audiologic screening is imperative. Slit lamp eye exam screening for intra-ocular inflammation is important as well.

Management of NOMID includes treatment with medications that block IL-1 activity and close monitoring of clinical sequelae. Anakinra, an IL-1 receptor antagonist, given as daily subcutaneous injections, is currently the only FDA approved medication for the treatment of NOMID. Longer acting IL-1 blockers including rilonacept and canakinumab that allow weekly or monthly subcutaneous dosing are available and approved for treatment of the milder forms of CAPS; however, they may be suboptimal for the treatment of NOMID due to unclear CNS penetrance. The long-term safety and efficacy of anakinra were described in two studies conducted in Italy and France which suggest that the medication is safe for long term use and dramatically reduces disease-associated morbidity.

 Of note, the severity of intellectual disability associated with NOMID is proportional to the time to start IL-1 treatment; thus, early initiation of treatment is extremely important in minimizing morbidity. Despite adequate treatment with anakinra and well-controlled symptoms with minimal systemic inflammation, patients may still develop sensorineural hearing loss; therefore, frequent audiologic evaluation is critical in patients with NOMID.

After consultation and evaluation by the rheumatology service, daily subcutaneous anakinra treatment was initiated at 11-weeks of age, with complete resolution of the rash within hours of the first injection. Inflammatory markers subsequently normalized, ocular exam showed no signs of intraocular inflammation, and serial hearing tests remained normal. At 4 months of age, the patient underwent further testing to verify adequate CNS disease control. This included brain MRI with and without contrast that was normal; 24-hours video electroencephalography that demonstrated no epileptiform discharges or clinical events; and lumbar puncture that showed normal opening pressure, no CSF pleocytosis, and normal CSF cytokine profile. All these reassuring studies indicated adequate disease control.

After starting anakinra treatment, the patient demonstrated a significant increase in weight percentiles from the 30th to the 90th percentile, indicating that even though his initial weight gain appeared adequate, it was apparently suboptimal. The patient is following routinely with primary care pediatrics, rheumatology, ophthalmology, and audiology, who are monitoring for development of sensorineural hearing loss, ocular inflammation, skeletal abnormalities, and developmental delay. The team is vigilantly observing for unexplained fever, rash, skeletal deformities, irritability, or vomiting that could suggest chronic meningitis, seizures, or concerns of hearing or vision loss.

Neonatal Onset Multisystem Inflammatory Disease (NOMID) is the most severe subtype of Cryopyrin Associated Periodic Syndromes in which a gain of function mutation in the 

 gene leads to overproduction of IL-1β, overactivation of the innate immune system, and multisystem dysfunction secondary to chronic inflammation. NOMID may present with an early-onset urticarial rash, growth disturbances, developmental delay, irritability, seizures, hearing loss, ocular inflammation, and arthropathy these can occur with or without the presence of fever. Furthermore, early urticarial rash in the neonatal period is extremely unusual and should alert the clinician to consider rare diagnoses such as NOMID where early initiation of IL-1 targeting therapies such as anakinra, is critical in alleviating disease symptoms and decreasing the risk for long term morbidity. In conclusion, it is critical for the general pediatricians to be able to distinguish between common and benign neonatal rashes from atypical rashes that may indicate infection or serious autoinflammatory diseases, including NOMID. 

1. Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. 

. 2002;46(12):3340-3348. doi:10.1002/art.10688 

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

Julie Sherman, PhD

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