Primary Ciliary Dyskinesia with Identical Genotype but Distinct Phenotypes in Two Siblings.

In this study, we report two cases of siblings diagnosed with primary ciliary dyskinesia (PCD) sharing an identical genotype yet exhibiting distinct phenotypes. A 13-year-old girl with acute pneumonia was admitted to our hospital. Chest and sinus radiography revealed situs inversus and bilateral maxillary sinusitis.

Utility of MRI in diagnosis and treatment of acute focal bacterial nephritis with abscess formation in a paediatric patient.

Contrast-enhanced CT is the gold standard for the diagnosis of acute focal bacterial nephritis (AFBN). However, owing to radiation exposure and the possibility of contrast agent-induced side effects, contrast-enhanced CT is not always recommended for children. A paediatric patient presenting with a 1-week history of fever was admitted to our hospital.

Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.

Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases are sporadic, with age-related and hypertension-related sSVD and cerebral amyloid angiopathy being the most prevalent forms. Monogenic cSVD accounts for up to 5% of causes of stroke.

Fetal MRI of the supratentorial brain abnormalities: what we should know about ventriculomegaly?

Fetal MRI is performed to evaluate the brain in cases where an abnormality is detected by ultrasonography (US). Fetal MRI has higher contrast resolution than US. Because the fetal brain is dynamic structure, it is important to know the normal appearance of the brain at different gestational age to be better able to identify abnormalities using MRI.

A Comprehensive Review of Pediatric Acute Encephalopathy.

Acute encephalopathy typically affects previously healthy children and often results in death or severe neurological sequelae. Acute encephalopathy is a group of multiple syndromes characterized by various clinical symptoms, such as loss of consciousness, motor and sensory impairments, and status convulsions. However, there is not only localized encephalopathy but also progression from localized to secondary extensive encephalopathy and to encephalopathy, resulting in a heterogeneous clinical picture.

Magnetic resonance imaging of a pediatric case of arthritis associated with acute lymphoblastic leukemia: A case report.

In the present case report, a 3-year-old girl presented with a 1-week history of spontaneously resolving right knee pain. After 1 month, the patient had trouble ambulating due to painful swelling of their ankle. Rheumatic disease, specifically juvenile idiopathic arthritis, was considered.

Diagnosis and Treatment for Acute Focal Bacterial Nephritis With Renal Abscess Based on Magnetic Resonance Imaging Evaluation.

A 5-year-old boy was diagnosed with left acute focal bacterial nephritis (AFBN) complicated with renal abscess (RA) on magnetic resonance imaging (MRI). MRI is useful for diagnosing AFBN and RA complications. He was administered antibiotics for 3 weeks on evaluation of MRI findings.

Central hypothyroidism in a pediatric case of primary acute monoblastic leukemia with central nervous system infiltration: A case report.

Rationale: Central nervous system (CNS) leukemia is a frequent diagnosis in pediatric acute myeloblastic leukemia (AML) and includes neural symptoms. However, CNS leukemia is rarely associated with central hypsothyroidism.

Patient Concerns And Diagnoses: A 2-year-old female with AML with MLL rearrangement presented with CNS infiltration.

Usefulness of 18F-Fluorodeoxyglucose Positron Emission Tomography for Follow-Up of 13-cis-Retinoic Acid Treatment for Residual Neuroblastoma After Myeloablative Chemotherapy.

13-cis-retinoic acid (13-cis-RA) treatment is used as a second-line treatment for residual or recurrent neuroblastoma. However, determining the duration of 13-cis-RA treatment for residual and recurrent neuroblastoma can be a problem because it is difficult to evaluate the effectiveness of the treatment.We performed 13-cis-RA treatment to remove residual active neuroblastoma cells in an 8-year-old boy with stage 4 neuroblastoma that developed from a left sympathetic ganglion and had been treated with chemotherapy, surgery, autologous peripheral blood stem-cell transplantation, and radiotherapy.

Systemic inflammatory response syndrome and prolonged hypoperfusion lesions in an infant with respiratory syncytial virus encephalopathy.

Respiratory syncytial virus (RSV) is a cause of neurological complications in infants. We report a rare case of RSV encephalopathy in an infant who presented with poor sucking and hypothermia at 17 days of age after suffering from rhinorrhea and a cough for several days. After hospitalization, the patient presented with stupor and hypotonia lasting for at least 24 h, and was intubated, sedated, and ventilated for treatment of pneumonia.

Fetal MR imaging diagnosis of pulmonary agenesis.

A woman was referred to our institution with an ultrasound (US) suggestive of right-sided heart in fetus at 34 weeks' gestation. Magnetic resonance (MR) imaging revealed right-sided heart, small right hemithorax, and completely absent right main bronchus and right pulmonary artery. From our experience with this case, we point out 5 important MR imaging findings needed for prenatal diagnosis of pulmonary agenesis.