Items tagged “rg_38_3_edit”

Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterized by megalencephaly, severe mental and neurological deficits, and blindness.  Epidemiology Canavan...

Hepatic abscesses, like abscesses elsewhere, are localized collections of necrotic inflammatory tissue caused by bacterial, parasitic, or fungal agents.  Epidemiology The frequency of individual infective agents as causes of liver abscesses are intimately linked to the demographics of the affe...

Medication-related osteonecrosis of the jaw (MRONJ) describes the bony destruction of the jaw (the mandible is more commonly involved than the maxilla) with exposed bone present for greater than eight weeks in the presence of current or previous antiresorptive and/or antiangiogenic medication us...

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...

Sickle cell disease (SCD) (historically also known as drepanocytosis) is a hereditary (autosomal recessive) condition resulting in the formation of abnormal hemoglobin (a hemoglobinopathy), which manifests as multisystem ischemia and infarction, as well as hemolytic anemia.  Hemoglobin SC (HbSC...

Skeletal manifestations of sickle cell disease result from three interconnected sequelae of sickle cell disease 5:  vaso-occlusive crises resulting in bone infarcts and subperiosteal hemorrhages chronic anemia resulting in expansion of the medullary spaces infection These, in turn, can predi...

Acetabular labral tear, as the name implies, is a tear involving the acetabular labrum of the hip. It is defined as a defect in the labral surface, intralabral surface or chondrolabral junction 10. With the increasing use of hip arthroscopy in orthopedic surgery since the 1970s pathologies of t...

Anophthalmia refers to a complete absence of ocular development. It is often considered to represent the most severe form of microphthalmia. Pathology Anophthalmia can occur in three situations: primary anophthalmia: complete absence of eye tissue due to a failure of the part of the brain tha...

Maple syrup urine disease (MSUD) is a very rare metabolic disorder. It is an inborn error of amino acid metabolism, which classically affects the brain tissue resulting in impairment or death if untreated. Epidemiology MSUD occurs in 1 in 185,000 births 9. Clinical presentation It usually ma...

X-ray artifacts can present in a variety of ways including abnormal shadows noted on a radiograph or degraded image quality, and have been produced by artificial means from hardware failure, operator error and software (post-processing) artifacts.  There are common and distinct artifacts for fi...

Phenylketonuria (PKU) is an inborn error of metabolism resulting from abnormal metabolism of phenylalanine. If untreated, patients can develop central nervous system impairment.  Epidemiology PKU is inherited as an autosomal recessive disorder with an incidence of 1 in 10,000. It is more commo...

Osteoporosis is a metabolic bone disease characterized by decreased bone mass and skeletal fragility. The World Health Organization (WHO) operationally defines osteoporosis as a bone mineral density T-score less than -2.5 SD (more than 2.5 standard deviations under the young-adult mean), which ...

Acute hepatitis (plural: acute hepatitides) occurs when the liver suffers an injury with a resulting inflammatory reaction. The cause of the injury can happen in multiple different ways, and imaging findings are often non-specific. Acute hepatitis is a clinical diagnosis and a normal imaging app...

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency. Epidemiology Profound deficiency (<10% of normal level) is estima...

Papillary cystadenomas of the epididymis are the second most common benign tumors of the epididymis after adenomatoid tumors and are common in patients with von Hippel-Lindau disease (vHL). Clinical presentation Papillary cystadenomas are usually asymptomatic. Epidemiology They are more comm...

The rectus femoris muscle is one of four quadriceps muscles in the anterior compartment of the thigh. It is distinct from the other quadriceps muscles (vastus medialis, vastus intermedius, vastus lateralis) in that it crosses both the hip and knee joints 1. Summary origin(s): consists of two p...

Snapping iliopsoas tendon is one of the external causes of a medial snapping hip and occurs when a portion of the iliopsoas tendon moves abruptly onto the superior pubic ramus leading to a snap.  Epidemiology Most commonly affects athletes with repeated hip abduction (e.g. dancing, gymnastics,...

Homocystinuria is a rare congenital disorder of metabolism.  Clinical presentation The disease may affect one or more of the systems below 1,2: eye: ectopia lentis (typically downwards and inwards) CNS: seizures, dystonia, developmental delay skeletal: scoliosis, pectus excavatum, long limb...

Lung cancer associated with cystic airspaces, rather than a distinct disease, represents a spectrum of radiological patterns of tumor growth mainly characterized by lesions arising or abutting the walls of cystic airspaces. Attention to this pattern has been brought in recent decades primarily d...