Cephalhematomas are subperiosteal collections of blood resulting from birth trauma. Usually benign, they tend to resolve spontaneously within a few weeks; however, on rare occasions, they may develop an infection, which can lead to complications such as sepsis, meningitis, and osteomyelitis. Patients present with nonspecific symptoms, making it difficult and crucial to diagnose and treat them promptly. Across literature, there have been limited reports of infected cephalhematomas leading to osteomyelitis, and all such cases have mentioned the involvement of the parietal bone. We present the case of osteomyelitis secondary to an infected cephalhematoma in a female neonate, along with detailed insights into the diagnosis, treatment, and prognosis of the patient. This case highlights the importance of early recognition of the disease, which, in our patient, was first noted on the 5th day of life and properly diagnosed on the 29th day of life, and multidisciplinary treatment in preventing possibly fatal complications.
Paroxysmal cold hemoglobinuria (PCH) is an acquired intravascular hemolytic anemia of young children that is usually self-limited. Two patients with PCH have previously been described in the medical literature to have received complement inhibition with eculizumab, an inhibitor of complement C5, and in both cases, the drug was given in the setting of organ failure. No criterion defines when the use of complement inhibition is warranted. We report a previously healthy 23-month-old boy with postviral PCH whose hemoglobin nadir of 2.7 g/dL, undetectable total hemolytic complement (CH50), and elevated soluble C5b-9 represent the most severe anemia among the three reported patients. Despite this laboratory severity, he remained hemodynamically stable with preserved renal function, never requiring vasoactive support or dialysis, and recovered with warmed transfusion and thermal protection after eculizumab was deferred. Our experience suggests that organ failure, rather than anemia or hemolysis severity alone, may be a more clinically meaningful indicator for escalation to complement inhibition.
Background:Critical pertussis is a rapidly progressive, life-threatening illness in infants, often presenting with hyperleukocytosis, respiratory failure, and hemodynamic instability. Mortality remains high despite supportive advances, and no standardized guidelines exist to guide the use of exchange transfusion in this setting. Objective:To describe the outcomes of early exchange transfusion in infants with critical pertussis managed in a high-acuity tertiary PICU in Kuwait and to advocate for the development of a standardized national protocol. Methods:This prospective case report includes three infants with PCR-confirmed Bordetella pertussis infection admitted between January and December 2024 to the Pediatric Intensive Care Unit (PICU) of New Jahra Hospital, Kuwait's busiest tertiary-level center. The decision to initiate exchange transfusion was based on consensus clinical assessment integrating clinical status and laboratory progression. Once the decision to proceed was made, double-volume exchange transfusion was performed according to a unit-specific procedural protocol developed within our institution. Clinical data, laboratory trends, and short-term outcomes were reviewed. Results:All infants presented with severe respiratory failure, marked hyperleukocytosis (> 30-60 × 109/L), and evolving hemodynamic instability. Exchange transfusion performed within 2-4 days of admission led to prompt leukoreduction, improved perfusion, and clinical stabilization. All survived to discharge and remained well at 6-week follow-up. Thrombocytopenia occurred following exchange transfusion and resolved with supportive care. Seizures and iatrogenic opioid withdrawal occurred during the PICU course in Cases 1 and 2 and were not considered complications directly attributable to exchange transfusion. National feedback from PICU unit heads highlighted broad support for protocol standardization. Conclusion:Early exchange transfusion, guided by evolving clinical severity and laboratory trends, may contribute to favorable outcomes in infants with critical pertussis when considered before refractory pulmonary hypertension develops. These cases support timely recognition and intervention while underscoring the need for standardized national practice, maternal Tdap immunization, and strengthened disease surveillance.
Hydatid cyst, caused by Echinococcus infection, is the most common parasitic lung infection in children. Giant cysts are generally the result of a late diagnosis and are associated with a high risk of spontaneous rupture and life-threatening complications, including anaphylactic shock. We present the complex management of a large, complicated hydatid cyst of the lung in an 11-year-old boy in a nonendemic area. This case highlighted the specific work-up and surgical treatment of lung cysts as well as the differential diagnosis to consider when treating pulmonary masses or pneumonia.
Ketamine misuse is an increasing public health concern among adolescents in the United Kingdom, with initiation reported as early as 14 years of age and a rapidly rising demand for drug and alcohol support services. Chronic ketamine misuse is associated with significant urological sequelae, including ketamine-induced uropathy, a condition increasingly encountered within paediatric and adolescent populations. Despite this trend, there remains a lack of unified paediatric-specific management guidelines. We present the case of a 15-year-old boy who was referred urgently with abdominal pain and haematuria. Imaging revealed a thick-walled, irregular bladder with vascular soft tissue plaques, alongside a significantly raised albumin-creatinine ratio. Further assessment identified a history of heavy recreational ketamine use (up to 2 g/day) commencing at age 14. Following engagement with community drug and alcohol support services, the patient significantly reduced ketamine use, with subsequent improvement in symptoms, highlighting the potential reversibility of disease with early intervention and abstinence. This case underscores the emerging burden of ketamine-induced uropathy in paediatric urology and the need for a structured, age-appropriate management approach. Drawing on existing adult consensus guidance, we propose a tailored paediatric framework incorporating early noninvasive investigations, stepwise escalation of treatment, multidisciplinary involvement and close collaboration with youth-focused substance misuse services. Increased reporting and research into paediatric ketamine uropathy are essential to clarify disease trajectory, inform clinical guidelines and support public health strategies aimed at reducing long-term urological morbidity in young people.
Epididymo-orchitis (EO) is an extremely rare condition in preterm infants and usually results from hematogenous bacterial spread or urinary infections linked to structural abnormalities. We describe a preterm newborn, born at 36 weeks of gestation, with a left-sided diaphragmatic hernia. After successful surgery at 12 h of life, the newborn developed red and tender swelling of the right scrotum on the 13th postoperative day. Color Doppler ultrasonography revealed an abrupt cessation of vascular flow at the base of the right scrotum and peri-testicular fluid. Urinalysis results were unremarkable. Surgical exploration revealed pus in the tunica vaginalis and congestion of the right epididymis and testis, confirming the diagnosis of EO and pyocele. The peri-testicular space was cleaned and drained. Blood and peri-testicular pus cultures revealed the growth of Escherichia coli, while urine culture showed no growth. After 3 days of scrotal drainage and a 10-day antibiotic course, the infant improved. Follow-up ultrasound on Day 14 after surgery showed normal testicular size and structure. EO and pyocele should be considered in acute scrotal swelling in a preterm. The absence of sepsis, urinary tract infection, or urinary tract abnormalities does not preclude the diagnosis.
Brain abscesses are local pockets of infection within the brain parenchyma, characterized by headaches, fevers, and focal neurological deficits. Here, we present a case of an eight-year-old fully vaccinated male patient who presented to the emergency department with a 1-week history of intermittent generalized headache, photophobia, fatigue, and vomiting. The patient was admitted for further work-up, with subsequent imaging revealing a cerebellar mass consistent with an abscess. Cultures from the abscess fluid grew pan-sensitive Streptococcus pneumoniaeSerotype 3, and the patient was started on a 6-week course of antibiotic therapy, completed via an outpatient peripherally inserted central catheter (PICC) line. Considering that this serotype is one of the 13 serotypes included in the pneumococcal conjugate vaccine 13 (PCV13), potential etiologies for the patient's presentation were proposed, including underlying immunodeficiency. An immunodeficiency work-up diagnosed him with specific polysaccharide antibody deficiency (SPAD) with poor immunologic memory after vaccination against Streptococcus pneumoniae, and Haemophilus influenzae failed to induce robust and durable antibody levels. This case underscores the importance of screening children who were previously immunized with PCV and present with invasive pneumococcal disease (IPD) for underlying immunodeficiency.
Background:Congenital pulmonary airway malformation (CPAM) is a rare developmental anomaly of the lower respiratory tract, with an estimated incidence ranging from 1 in 10,000 to 1 in 35,000 live births. CPAM may present during infancy with severe respiratory distress and complications such as pneumothorax or recurrent pulmonary infection. Case Presentation:We report two female infants aged 7 months and 2 months who presented with severe respiratory distress and radiological findings initially suggestive of pneumothorax. In Case 1, chest computed tomography (CT) demonstrated a large solitary cyst consistent with Type I CPAM. The patient required prolonged pediatric intensive care admission complicated by ventilator-associated infection with Pseudomonas aeruginosa and Acinetobacter baumannii before successful right lower lobectomy and recovery. In Case 2, chest CT demonstrated multiple cystic hyperinflated lesions suggested Type III CPAM; however, alternative differentials of bronchial atresia and other congenital cystic lung lesions could not be excluded. Despite aggressive ventilatory and antimicrobial management, the infant deteriorated and died from progressive respiratory failure prior to surgical intervention. Conclusion:These cases highlight the diagnostic complexity of congenital cystic lung lesions presenting with respiratory distress in resource-limited settings. Early advanced imaging, multidisciplinary evaluation, and timely surgical management remain critical for improving outcomes.
The MYRF gene encodes a pleiotropic transcription factor essential for the development of multiple organ systems, including the heart, lungs, diaphragm, and genitourinary tract. Pathogenic variants in MYRF are associated with a multisystem disorder commonly referred to as MYRF-related cardiac-urogenital syndrome (CUGS). We describe a term female neonate with a maternally inherited likely pathogenic MYRF variant (c.1305_1311 + 1dup), a splice-site duplication predicted to disrupt normal gene function. The patient presented with complex congenital anomalies, including scimitar syndrome, right-sided congenital diaphragmatic hernia with hepatopulmonary fusion, pulmonary hypoplasia, and uterine didelphys. Several of these features have been individually reported in association with MYRF; however, uterine didelphys represents a previously unreported Müllerian duct anomaly within the MYRF-related phenotypic spectrum. The clinical course was complicated by severe pulmonary hypertension, refractory hypoxemia, and necrotizing enterocolitis, culminating in neonatal death despite aggressive medical management. This case highlights a severe neonatal presentation of MYRF-related disease in a female patient with an inherited pathogenic variant and expands the recognized phenotypic spectrum to include uterine didelphys. Recognition of sex-specific manifestations and variable penetrance in MYRF-related disorders is important for accurate diagnosis, prognostication, and genetic counseling in neonates with multisystem congenital anomalies.
Fluoxetine is a widely prescribed selective serotonin reuptake inhibitor in children and adolescents. Hypersensitivity reactions are rare and poorly characterized in this population. We report the case of a 17-year-old female who developed acute throat tightness with perceived oropharyngeal swelling and respiratory symptoms within 30 minutes of the first dose of fluoxetine, in the absence of cutaneous manifestations. Symptoms improved with bronchodilator therapy. Basophil activation testing demonstrated drug-induced activation, and an oral drug provocation test reproduced symptoms, confirming hypersensitivity. Previously reported pediatric cases included delayed urticaria, angioedema, and drug rash with eosinophilia and systemic symptoms. In contrast, this case highlights an immediate reaction predominantly affecting the airway. This report expands the known clinical spectrum of fluoxetine hypersensitivity reactions and emphasizes that the absence of cutaneous manifestations does not exclude drug allergy.
Accurate diagnosis of bacterial meningitis is critical, particularly in young febrile infants. Although commercially available multiplex PCR assays enable rapid pathogen detection, these typically do not include Salmonella spp. or other Enterobacteriaceae, which may result in missed diagnoses and/or inappropriate treatment duration. We report the case of a 2-month-old female infant with Salmonella enteritidis meningitis and concurrent bacteremia. The patient initially presented with fever, lethargy, and a bulging anterior fontanelle. Cerebrospinal fluid (CSF) analysis was highly suggestive of bacterial meningitis. However, both CSF culture and the FilmArray ME Panel were negative, likely due to prior empirical antibiotic therapy at another hospital. The causative organism was isolated on blood cultures. The infant was treated with intravenous ceftriaxone for 24 days and discharged in excellent clinical condition. Twelve days later, she was readmitted with a relapse of meningitis and bacteremia caused by the same pathogen. She received combination therapy with cefotaxime and cotrimoxazole for 37 days, followed by cefotaxime monotherapy for another 26 days. Immunological evaluation, including assessment of immunoglobulin levels, lymphocyte subsets, and interferon-γ receptor and Interleukin-12 receptor expression, was normal. The patient had a favorable outcome with complete clinical and laboratory recovery and a normal neurodevelopmental outcome at follow-up. Salmonella meningitis is a rare but life-threatening condition in infants, which may be overlooked when relying on molecular diagnostic panels that do not include this pathogen. Negative CSF PCR results should be interpreted with caution in the presence of typical cytological and biochemical findings of bacterial meningitis. Prolonged antimicrobial therapy of at least 4-6 weeks is essential to prevent relapse and ensure optimal microbiologic and clinical outcomes.
Staphylococcal toxic shock syndrome is a rare toxin-mediated illness. A 9-year-old girl on automated insulin delivery presented with shock, multiorgan dysfunction, rash, and gastrointestinal symptoms. An infected infusion site grew methicillin-susceptible Staphylococcus aureus. She met CDC criteria for TSS, highlighting infusion sites as sepsis foci and supporting continuation of automated insulin delivery during critical illness.
Neonatal isolated submandibular suppurative sialadenitis (NISSS) is a rare condition. We present a case of NISSS caused by Staphylococcus aureus ( S. aureus ) in premature triplet girls born at 28 + 1 weeks of gestation. Mother’s milk culture tested positive for S. aureus , which is presumed to be the potential contributing factor of the infection. The first symptoms appeared in one of the girls at 31 days of age, followed by her sisters at 34 and 36 days of age, respectively. A search of the PubMed/Medline, ScienceDirect and Web of Science databases revealed that this is the first reported case of NISSS in triplets. We defined risk factors like an immature immune system, prolonged orogastric feeding and antidiuretic therapy for developing NISSS in neonates.
Introduction:Neonatal hematemesis is an uncommon presentation with a broad differential diagnosis ranging from benign to life-threatening etiologies, and there are no well-established, evidence-based management guidelines. This case highlights the diagnostic challenges and potential role of empiric acid suppression in a clinically stable neonate. Cases Presentation:A 4-week-old term male with a prior episode of coffee-ground emesis at 3 days of life presented with recurrent hematemesis consisting of bright red blood. He was hemodynamically stable with an unremarkable physical exam. Laboratory evaluation demonstrated stable hemoglobin, mildly elevated bilirubin, and no evidence of coagulopathy. Imaging, including abdominal ultrasound and radiographs, was unremarkable. Infectious and hematologic workups were negative. Esophagogastroduodenoscopy revealed superficial gastric mucosal abrasions without active bleeding, ulcers, or structural abnormalities. The patient was managed initially with intravenous acid suppression and supportive care, and then transitioned to oral lansoprazole. He tolerated feeds without recurrence of hematemesis and was discharged with a 14-day course of proton pump inhibitor therapy. At two-week follow-up, he remained asymptomatic with normal feeding and no further bleeding episodes. Conclusion:This case underscores the importance of systematic evaluation in neonatal hematemesis and suggests that empiric proton pump inhibitor therapy may be a reasonable option in select stable patients with suspected mucosal injury.
While IL12RB1 deficiency is classically associated with susceptibility to mycobacterial and Salmonella infections, its clinical spectrum may be broader than currently documented literature. Timely recognition of atypical pleiotropic presentations can contribute to earlier diagnosis, more tailored interventions, and eventually better patient outcome. However, current literature lacks reports of hepatic involvement such as biliary strictures or intrahepatic cholestasis in IL12RB1-deficient patients. This case exemplifies the diagnostic odyssey of a child with a rare genetic anomaly manifesting as two seemingly unrelated pathophysiologies; the diagnosis was established through genetic testing after exhaustive evaluation excluded infectious, metabolic, and autoimmune etiologies. This case raises the possibility of atypical hepatobiliary manifestations associated with IL12RB1 deficiency. Early genetic testing should be integrated into the diagnostic pathways with undiagnosed cholestasis, and clinicians should remain vigilant for systemic manifestations beyond the classical infectious profile.
Background:Vitamin D-dependent rickets Type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in CYP27B1, resulting in impaired renal 1α-hydroxylation of 25-hydroxyvitamin D. The consequent deficiency of active vitamin D disrupts calcium-phosphate homeostasis and causes rickets. Although VDDR1A is monogenic, clinical severity may vary considerably even among patients with the same mutation. Case Presentation:We describe two unrelated Saudi boys with genetically confirmed VDDR1A who both harbored the same homozygous CYP27B1 c.1286G > C (p.Arg429Pro) variant but exhibited markedly different clinical courses. The first child presented at 7 months of age with hypocalcemic seizures and classical radiographic features of rickets but preserved growth. Early initiation of alphacalcidol and calcium supplementation was associated with biochemical improvement, resolution of seizures, and favorable clinical recovery by 2.5 years of age. In contrast, the second child was diagnosed at 16 months after developmental delay, recurrent respiratory infections, growth failure, and early skeletal deformities. Long-term follow-up into adolescence revealed severe bowing deformities, kyphoscoliosis, osteopenia, and healed fractures in the setting of delayed diagnosis and inconsistent treatment adherence, despite receiving the same therapy. Conclusion:These cases highlight substantial phenotypic variability in VDDR1A even in children harboring the same CYP27B1 mutation. Early recognition and sustained treatment with active vitamin D therapy are crucial to prevent severe skeletal complications and optimize growth, particularly in populations with high rates of consanguinity.
Background:Perinatal asphyxia is frequently complicated by cardiovascular instability. Although hypotension and myocardial dysfunction are widely recognized, systemic hypertension after asphyxia has been described in human neonates and may represent a distinct hemodynamic phenotype. Case Report:We present two infants with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia who developed systemic hypertension following rewarming and received milrinone as part of hemodynamic management. Blood pressure normalized during the recovery phase while the infants were receiving milrinone; however, the observational nature of these cases precludes conclusions regarding treatment efficacy. Review of Literature:We provide a narrative review summarizing the available human evidence for postrewarming systemic hypertension and discuss potential mechanisms, implications for phenotype-directed management, and priorities for future research. Conclusion:These cases suggest the existence of systemic hypertension emerging after therapeutic hypothermia as a distinct postrewarming hemodynamic phenotype (HYPER-HIE phenotype), characterized by elevated systemic vascular resistance despite recovering myocardial function. Recognition of this phenotype has important implications for postrewarming cardiovascular surveillance and phenotype-directed hemodynamic management in neonatal encephalopathy.
Neonatal opioid withdrawal syndrome has become a prevalent diagnosis with the rise of maternal substance use during pregnancy. Manifestation of this syndrome is characterized by altered activity of the central nervous system with symptoms including irritability, gastrointestinal dysfunction, and activation of the autonomic nervous system. There is currently no standardized pharmacological protocol for the treatment of this syndrome. Opioids such as morphine and methadone are first-line medications with clonidine as the recommended adjunct therapy. We observed increases in urinary tract infection in infants, especially male infants, with neonatal opioid withdrawal syndrome that were treated with morphine and clonidine. Urinary tract infection is uncommon among newborns and poses a significant risk to their health secondary to their immature renal and immune systems. We describe 4 cases in newborns treated with morphine and clonidine, prompting an investigation into the individual cases to highlight a potential association between clonidine exposure and urinary tract infection.
A previously healthy 5-year-old boy presented to pediatric neurology for evaluation of recurrent migraine headaches with associated anxiety. Neurologic imaging was unremarkable, but clinical features consistent with autism spectrum disorder were noted. As part of standard-of-care ASD evaluation, SNP chromosomal microarray (CMA) on peripheral blood revealed a hypodiploid genome (∼35 chromosomes), suspicious for leukemia. Prompt notification led to repeat blood testing showing ∼30% circulating blasts. A diagnosis of acute leukemia was made, and constitutional CMA on buccal DNA showed a normal diploid male karyotype. This case illustrates the potential for ASD genetic testing to yield critical, incidental systemic findings and underscores the importance of rapid follow-up and interdisciplinary care.
Background:Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant disorder caused by mutations in the FTL gene, characterized by elevated serum ferritin levels without systemic iron overload and early-onset cataract. Misinterpretation of hyperferritinemia may lead to unnecessary investigations and treatment. Case:We report a pediatric case with familial involvement in which hyperferritinemia was incidentally detected in a 9-year-old boy. Laboratory evaluation revealed markedly elevated serum ferritin levels with normal transferrin saturation and no evidence of systemic iron overload. Genetic analysis identified a heterozygous c.-161C > T mutation in the FTL gene. In addition, a homozygous HFE c.187C > G (p.His63Asp) variant was detected. Family screening revealed similar biochemical and genetic findings in multiple relatives, several of whom had bilateral cataracts. Conclusion:This case underscores the importance of considering HHCS in pediatric patients presenting with hyperferritinemia and normal transferrin saturation. The coexistence of FTL mutation and HFE H63D homozygosity appears to be incidental and should be interpreted cautiously. Recognition of this condition is essential to prevent unnecessary investigations and inappropriate treatment.
