16 documents found, page 1 of 2

Infantile Neuroaxonal Dystrophy: Clinical Case

Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder caused by mutations in the PLA2G6 gene and is part of the neurodegeneration with brain iron accumulation disease group. We present the case of a three-year-old male with a six-month history of neurodevelopmental regression, including motor and speech regression. Brain magnetic resonance imaging (MRI) revealed characteristic findings such as cl...

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and ...

Complex diseases arise from the interplay of genetic and environmental factors. We present a case where complex diseases seem to coexist. A 12-month-old girl was referred for short stature and hypotonia. Initial evaluation revealed central hypothyroidism, growth hormone deficiency and a small pituitary gland with ectopic neurohypophysis. Replacement therapy improved growth, but developmental delay and strabismu...

Chronic Nonbacterial Osteomyelitis in Neuroradiology - Behavior and Evolution o...

Background: Chronic nonbacterial osteomyelitis (CNO) is a rare non-infectious inflammatory musculoskeletal disease where imaging plays a key diagnostic role. Vertebral and mandibular lesions are frequent manifestations, meaning their awareness is crucial for the neuroradiologist to avoid delays in diagnosis and treatment. Objective: Characterize vertebral and mandibular CNO lesions on imaging to assist practici...

Imaging of Pediatric Skull Lytic Lesions: A Review.

Skull lesions in pediatric population are common findings on imaging and sometimes with heterogeneous manifestations, constituting a diagnostic challenge. Some lesions can be misinterpreted for their aggressiveness, as with larger lesions eroding cortical bone, containing soft tissue components, leading to excessive and, in some cases, invasive inappropriate etiological investigation. In this review, we present...

Gorham-Stout Syndrome: a Rare Cause of Osteolytic Lesions.

Acute Necrotizing Encephalopathy: The Importance of Imaging Features

Tuberculous Meningitis: The Important Role of Imaging

Tuberculous meningitis is the most severe form of tuberculosis and the diagnosis continues to be challenging for clinicians. Indeed, many cases of Tuberculous meningitis cannot be confirmed based on clinical findings and laboratory techniques are largely insensitive or slow. Clinical presentation can be nonspecific and suggest alternative conditions. The difficulty in diagnosis often leads to a delay in treatme...

Lemierre-Like Syndrome Caused by Staphylococcus aureus in a 3-Month-Old Girl

Images in Pediatrics

Wernicke encephalopathy in children

Introduction : Wernicke Encephalopathy (WE) is an acute neurological disorder caused by thiamine deficiency. Usually associated with alcoholism in adults, WE can also occur in children with other etiologies.1 The classic triad of symptoms is present in a small number of patients. As a medical emergency, once suspected, high doses thiamine treatment should be started in order to decrease comorbidities and improv...

Meningitis in a Small Infant. When Something is Not What it Seems