19 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...

Neuroimaging in inborn errors of immunity

Purpose: Inborn errors of immunity (IEIs) are a heterogeneous group of germline disorders whose recognition is increasing but which remain underdiagnosed and associated with significant pediatric morbidity and mortality. This review aims to systematize the main neuroimaging manifestations of IEIs, addressing how neuroradiologists can identify characteristic patterns to support earlier diagnosis and guide clinic...

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...

Reverse phenotyping after ngs panel of x-linked intellectual disability unravel...

X-linked intellectual disability (XLID) is characterized by extensive genetic heterogeneity. Next-generation sequencing (NGS) have been used in these cases as a cost-effective diagnosis approach. Genetic findings often reveal variants unforeseen during clinical investigation, prompting the need for reevaluation of specific features designated as reverse phenotyping (RP). X-linked creatine transporter deficiency...

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...