Pathology of Erdheim Chester disease?
rare non-langerhans cell multisystemic lipogranulomatosis with invasion by lipid laden histiocytes
Most common presenting symptoms of erdheim chester disease?
bone pain
What syndrome is associated with osteosclerotic myeloma? (Name the other findings as well)
POEMS syndrome P - polyneuropathy O - organomegaly E - endocrinopathy M - monoclonal gammopathy S - skin changes (including hyperpigmentation and skin thickening)
What is name of lateral esophageal diverticulum
Killian jamieson diverticulum
Where does a zenker diverticulum exit through
A Zenker diverticulum is a pulsion-pseudodiverticulum and results from herniation of mucosa and submucosa through the Killian triangle (or dehiscence of Killian), a focal weakness in the hypopharynx at the normal cleavage plane between the fibers of the inferior pharyngeal constrictor (thyropharyngeus muscle) and the cricopharyngeus muscles.
Herniates posteriorly
Most common extratesticular scrotal neoplasm?
Adenomatoid tumor of the scrotum.
It is the most common tumor of the epididymis
Benign
What are the diagnostic criteria for NF1?
To make the clinical diagnosis two or more of following are required:
> 6 cafe au lait spots evident during one year
two or more neurofibromas or one plexiform neurofibroma
optic nerve glioma
distinctive osseous lesion
sphenoid wing dysplasia
two or more iris hamartomas (Lisch nodules)
axillary or inguinal freckling
primary relative with NF1 with above criteria
Give 5 Ddx for esophageal dilatation
Achalasia Scleroderma Esophageal/gastric carcinoma Esophagitis with stricture Postsurgical changes (vagotomy)
What is pathogenesis of achalasia
Disease of myenteric plexus which results in failure of relaxation of lower esophageal sphincter.
Primary achalasia is due to degeneration of myenteric plexus. Secondary achalasia is due to destruction of the plexus by infiltrating tumor or infection such as Chagas disease or fungal infection.
What is Chagas disease? What cardiac presentation is it associated with?
Tropical parasitic infection also referred as trypanosomiasis.
Caused by the protozoan Trypanosoma cruzi.
Cardiac presentation: acute myocarditis
Give 4 ddx for esophageal pseudodiverticula
Reflux esophagitis
Candida esophagitis
Superficial spreading carcinoma
Drug induced esophagitis
Describe linitis plastica of stomach and give 4 ddx
Rigid thickened stomach with small lumen and loss of normal folds
Gastric carcinoma (scirrhous adenocarcinoma)
Metastatic disease (breast, lung)
Lymphoma
Crohn’s disease
Also TB/sarcoid
What is the most common site of extrapulmonary tuberculosis?
Abdomen
What is Gaucher disease? Give typical imaging findings
It is the most common lysosomal storage disease in humans and the most common genetic disease among Ashkenazi Jews. It is a genetic multisystem disease arising from a deficiency of glucocerebrosidase activity, resulting in accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrophages, particularity in the bone marrow, spleen and liver.
Age of presentation is variable depending on the type (1, 2 or 3) of disease.
MSK is the most commonly affected system, where there is bone marrow edema, osteonecrosis and osteopenia, amongst other findings.
Hepatosplenomegaly and areas of liver ischemia/inflammation and splenic infarct also seen.
Give a mnemonic for appearance of blood on MR
I Bleed I Die Bleed Die Bleed Bleed Die Die
TRUE OR FALSE:
Extracellular methemoglobin is T2 hyperintense
TRUE
Subacute blood in the form of methemoglobin is hyperintense on T1- weighted images.Initially, methemoglobin is intracellular and has low signal intensity on T2-weighted images. Subsequently, as the
red cells lyse and the methemoglobin becomes extracellular, it has high signal intensity on T2-
weighted images
What gives the T1 and T2 hypointensity of chronic blood products?
Hemosiderin
What are the non-cystic findings of autosomal dominant polycystic kidney disease?
Heart valve defects (25%) - mitral prolapse - bicuspid aortic valve Hernias (25%) Aneurysms - Cerebral (10%) - Aorta - Coronary arteries Aortic dissection Multiple biliary hamartomas
Several others (see radiopedia)
What is madelung disease?
Madelung disease is a rare benign entity (lipomatosis) clinically characterised by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper region of the trunk.
Presents in patients with a history of moderate to severe alcoholism. Most commonly involves the tissues of the neck.
What is Li Fraumeni syndrome?
Li Fraumeni syndrome is a hereditary cancer syndrome. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age.
Associated with development of sarcomas, CNS tumors, leukemia, breast cancer and adrenal cortical carcinoma
What is a ganglioneuroma?
Ganglioneuromas are fully differentiated neuronal tumours that do not contain immature elements and potentially occur anywhere along the peripheral autonomic ganglion sites.
They are derived from the primordial neural crest cells that form the sympathetic nervous system.
What are the most common locations for a ganglioneuroma?
Most commonly arise from paravertebral sympathetic chains of the posterior mediastinum (41.5%) or retroperitoneum (37.5%).
Less common sites include the adrenal gland (21%) and neck (8%)
