Hyper-Immunoglobulin E (IgE) Syndrome: A Diagnostic Dilemma.

Hyper-immunoglobulin E (IgE) syndrome (HIES) is an immunodeficiency syndrome characterized by atopic dermatitis, recurrent skin abscesses, and sinopulmonary infections with elevated serum IgE. In addition, patients also present with other skeletal and non-immune symptoms. We present a six-year-old boy with severe atopic dermatitis, multiple food allergies, mild asthma, and recurrent sinopulmonary infections, who presented to the ER with left ankle pain, fever, and inability to bear weight. Physical examination showed generalized eczematous lesions, significant left ankle ecchymosis, swelling, and tenderness. Investigations were pertinent for leukocytosis with neutrophilia and markedly elevated IgE levels with normal IgM, IgG, and IgA levels. HIES genetic panel was negative. MRI with contrast of the affected limb was consistent with osteomyelitis that responded to antimicrobial therapy. This case highlights a diagnostic challenge for allergists and clinicians when evaluating patients with severe atopic dermatitis, recurrent infections, and markedly elevated serum IgE without positive genetic results.

Ulnar Longitudinal Deficiency: A Case Report.

Ulnar longitudinal deficiency (ULD) is a rare skeletal condition marked by the partial or complete failure of the formation of the ulna. This rare condition is often associated with fixed flexion deformity, radial head subluxation, complex carpal, metacarpal, and digital abnormalities. Most presentations are male-preponderant and right-sided. Different classifications have described ULD. Usually, the condition is not associated with systemic findings; however, detailed physical examination and radiologic evaluations are crucial for assessing and managing affected patients. We report a rare case of ULD in an 11-month-old female infant with congenital absence of the left ulna, four digits, and a postaxial hypoplastic finger.

Gianotti-Crosti Syndrome: A Benign Dermatosis.

Gianotti-Crosti syndrome (GCS) is a benign acral dermatitis commonly seen in children younger than five years of age with no gender predilection. Clinical features are often vague, including but not limited to fever, lymphadenopathy, and erythematous papular rash that commonly spares the trunk, palms, and soles of the feet. It is presumably underdiagnosed as most children presenting with a widespread papular rash are diagnosed with non-specific viral exanthem. This benign condition has been linked to multiple viruses, and treatment is mainly supportive. We present a previously healthy 18-month-old girl who presented to the emergency room with a progressive skin rash and low-grade fever 10 days after receiving routine immunizations. GCS was diagnosed, and she received supportive care with spontaneous resolution of symptoms in four weeks.

A Diagnostic Dilemma: Transposition of the Great Arteries.

Transposition of the great arteries (TGA) remains one of the most common and severe underdiagnosed congenital cardiac anomalies in the prenatal period. Unfortunately, despite advances in prenatal ultrasound screening, the detection rate of major congenital heart defects (CHDs) remains low. We present the case of a preterm male infant delivered limp with generalized cyanosis and in respiratory distress at 36 weeks gestation with postnatal echocardiography (ECHO) depicting dextro-TGA (d-TGA). Maternal prenatal targeted fetal anomaly ultrasonography at 18 weeks gestation showed abnormal right ventricle and right ventricular outflow tract. Subsequent two-time repeat fetal ECHO showed ventricular septal defect. This case represents how challenging and unrecognized critical CHDs can be. Furthermore, it highlights the need for clinicians to have a high index of suspicion when newborns present with clinical manifestations of critical CHDs and manage it accordingly to avoid severe complications.

Internal Carotid Artery Dissection With Thrombosis in a Child With Prothrombin Gene Mutation.

Prothrombin gene mutation (prothrombin thrombophilia) is an inherited disorder that increases the risk of venous thrombosis. However, limited data exist on the risk of arterial stroke in an at-risk population. Several meta-analyses report slightly increased risk in specific populations. We report a 10-year-old Hispanic girl who presented to the emergency department with a seizure. This seizure occurred five days after she tripped and fell without any initial associated symptoms. She had left-sided hemiparesis on physical examination after the seizure. Imaging revealed internal carotid artery (ICA) dissection with thrombus, right caudate nucleus and putamen infarcts, and ischemic penumbra. She subsequently had an endovascular thrombectomy of the right ICA with reperfusion. Genetic testing showed a prothrombin gene mutation (G20210A). Prothrombin gene mutation was the most likely explanation for her stroke in the absence of a significant risk factor for arterial thrombosis or an underlying hypercoagulable disorder. Further investigations are required to determine the risks and evaluate the correlation between prothrombin gene mutation and ischemic stroke in children.