Pediatrics

The first case of IgG4-related ophthalmic disease presenting as posterior scleritis along with chronic orbital inflammation in a pediatric patient, requiring aggressive immunomodulatory therapy.

A 10-year-old boy exhibited persistent pancytopenia following treatment for mucormycosis, with further diagnosis revealing AML. Septic shock soon followed, but was successfully managed with combined CRRT and CytoSorb therapy.

EBRT successfully treated diffuse choroidal hemangiomas in a 14-year-old with Sturge–Weber syndrome, offering significant tumor reduction and potential for complete remission with supplementary therapy.

An 18-year-old girl who presented for primary amenorrhea treatment was found to have a 46, XY karyotype. CAIS was diagnosed and treated. Her twin brother had a 46, XY karyotype with male physical and ultrasound features.

A young man previously diagnosed with olfactory neuroblastoma started experiencing thigh pain and was found to have a bone metastasis. Early identification of skeletal involvement and prompt orthopedic intervention is crucial.

Explorative laparoscopy was key to detecting a necrotic gallbladder in an 8-year-old boy who presented with acute abdominal pain but had no evidence of infection and unclear imaging findings.

Complete heterozygous deletion of HNF1B was incidentally discovered in a woman who was enrolled in a clinical trial for type 1 diabetes and received immunosuppressive treatment for 4 years when she was a child.

The JAK inhibitor tofacitinib proved effective in treating a 7-year-old with anti-MDA5 antibody-positive juvenile dermatomyositis complicated by refractory interstitial lung disease.

Kawasaki disease rarely causes arrhythmias, but this infant was diagnosed with supraventricular tachycardia, which resolved after combination treatment with intravenous immunoglobulin and steroids.

Congenital agenesis of the pericardium, a rare and frequently asymptomatic anomaly, was diagnosed using cardiac imaging after a 16 year old presented with sudden onset, non-exertional chest pain. 

A high degree of suspicion is required to identify neuroblastoma presenting in an atypical manner. Here the child initially exhibited just left-sided facial paralysis, mimicking Bell’s palsy.

Myocardial amyloidosis is often missed in the early stages. Understand the importance of multimodal imaging in diagnosing systemic AL amyloidosis, particularly when patients present with extra-cardiac symptoms.

A young woman diagnosed with minimal change nephrotic syndrome in childhood developed latent autoimmune diabetes in adults and Graves disease. HLA testing was performed to investigate her genetic background.

A case underscoring the importance of considering Kawasaki disease in infants presenting with prolonged, antibiotic-resistant fever, even though the condition is uncommon in children younger than 6 months.

A 19-year-old presented with numbness and tingling in his hands and feet, which developed into total locked-in syndrome within 30 hours. Using cEEG to amplify nonvisible muscle activity enabled basic communication.

Two rare cases that expand the list of pathogenic GNB1 variants. GNB1 may have value as a candidate gene for severe early-onset obesity, hyperphagia, and neurodevelopmental delay or other metabolic and endocrine disorders.

This case highlights that tracheal stenosis should be considered as a differential diagnosis in children presenting with the signs and symptoms of respiratory distress, particularly if the patient has a history of intubation.

Surgical resolution of a long tortuous patent ductus arteriosus from the undersurface of the aorta, in a newborn term infant diagnosed with Tetralogy of Fallot and pulmonary atresia.

A 3-year-old with respiratory problems since birth was found to have multiple congenital anomalies affecting the airway including a posterior laryngeal cleft, a tracheal bronchus, and a very narrow distal trachea.

An unusual case of isolated catatonic syndrome in a 17-year-old, occurring almost a week after recreational drug use. Acute onset of psychomotor symptoms without previous psychiatric illness must be addressed early as potential catatonia.