Resident's Flash Card: Neurofibromatosis
Neurofibromatosis - I (von Recklinghausen’s disease)
- autosomal dominant (abnormality is on chromosome 17)
- diagnostic criteria include six or more cafe-au-lait spots, axillary or inguinal freckling, two (or more) neurofibromas, optic glioma (most common CNS neoplasm - occurs in 30-90% and is bilateral in 10-20%), iris hamartoma, distinctive osseous lesions, or a first-degree relative with NF-1
- hypertension may be found with renal artery fibromuscular dysplasia
- neurofibromas can occur in the urinary and gastrointestinal tracts
- increased incidence of all types of neoplasms
- malignant transformation of...
Source: Sumer's Radiology Site - August 19, 2013 Category: Radiologists Authors: Sumer Sethi Source Type: blogs
Basal Ganglia T1 Hyperintensity-MRI
This is a 14 year old boy with involuntary movements and hyperglycemia. Basal Ganglia T1 hyperintensity is noted and following are differential diagnosis for T1 hyperintensity in basal ganglia. Case Submitted by Dr Mitesh Gupta.
Causes:
methaemoglobin in intracranial hemorrhage
idiopathic calcification
hepatic failure
hamartoma in neurofibromatosis type 1
hyperalimentation
Wilson's disease
hyperglycemia associated chorea-ballism : non-ketotic hyperglycaemic hemichorea (NHH)
From Sumer's Radiology Site http://www.sumerdoc.blogspot.com -The Top Radiology Magazine. Teleradiology Providers at ...
Source: Sumer's Radiology Site - April 17, 2013 Category: Radiologists Authors: Sumer Sethi Source Type: blogs
Meningioma-Teaching Points
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“Dural tail”- curvilinear area of
enhancement tapering off from margin of tumour along dural surface. Hyperostosis of adjacent bone. CT – calcification
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“Light-bulb” enhancement post contrast;
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MR Spectroscopy shows – alanine
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DSA – “mother-in-law” sign (contrast shows up
early and stays late)
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ECA supply
commonest, “spoke-wheel” vascularity.
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Extra-axial tumour
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Associations with
Neurofibromatosis type II; basal cell naevus syndrome.
From Sumer's Radiology Site http://www.sumerdoc.blogspot.com -The Top Radiology Magazine. Teleradi...
Source: Sumer's Radiology Site - April 14, 2013 Category: Radiologists Authors: Sumer Sethi Source Type: blogs
USMLE Questions – Characteristic Disease Findings
The United States Medical Licensing Examination (USMLE) is designed to emphasize knowledge of clinical scenarios and clinical pearls, even on Step I. Listed below are some commonly encountered disease findings and characteristics.
Feature
Disease
45, X chromosome
Turner’s syndrome
5-HIAA increased in urine
Carcinoid syndrome
Aganglionic rectum
Hirschsrpung’s disease
Apple-core sign on barium enema
Colon cancer
Arched back (opisthotonos)
Tetanus
Argyll-Robertson pupil
Syphilis
Ash leaf on forehead
Tuberous sclerosis
Auer rods
Acute myelogenous leukemia
Austin Flint murmur
Aortic regurgitation...
Source: Inside Surgery - January 18, 2013 Category: Surgeons Authors: Editor Tags: Surgpedia USMLE diseases findings VMA water hammer pulse Source Type: blogs
