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McCune-Albright syndrome/ McCune-Albright-Sternberg syndrome is a genetic disorder characterized by the triad:1.polyosto...
15/05/2025

McCune-Albright syndrome/ McCune-Albright-Sternberg syndrome is a genetic disorder characterized by the triad:

1.polyostotic fibrous dysplasia
2.endocrinopathy: precocious puberty
3.cutaneous pigmentation: 'café au lait' spots

Pathology...
It is a skeletal developmental anomaly of bone forming mesenchyme in which osteoclast fail to mature normally and it is associated with increased serum alkaline phosphatase.

Occur in younger age group patients usually less than 10 years as compared to monocytotic fibrous dysplasia.
Malignant transformation is rare.

Case 160....Parkes Weber syndrome.. It is a rare autosomal dominant disease, with capillary malformation, venous malform...
24/08/2022

Case 160....Parkes Weber syndrome..
It is a rare autosomal dominant disease, with capillary malformation, venous malformation, lymphatic malformation and arteriovenous malformations (AV Fistulas) in the affected limb, hypertrophy of the bone and soft tissues of the involved limb.

Clinical presentation.. includes port-wine stains
swelling, discomfort and pain.Chronic venous ulcers and distal arterial ischemia are also presenting symptoms.
Lower limb is most commonly involved.

Pathology... RASA 1 gene mutation noted in few cases.

Complications... Multiple AVMs can lead to excessive bleeding or heart failure which can be life threatening.

Dd..klippel treanauny syndrome... Parkes–Webers syndrome has AV fistulas in addition.

Treatment...
1. Conservative management to improve quality of life.
2.Embolization and stenting of affected vessels.

Phrygian cap...Its a normal anatomical variant of the gallbladder. It denotes folding of the fundus back upon the gallbl...
26/03/2022

Phrygian cap...Its a normal anatomical variant of the gallbladder.

It denotes folding of the fundus back upon the gallbladder body.

Its asymptomatic with no pathological significance.

Dont misdiagnose it as a septum to avoid unnecessary cholecystectomy. No treatment required.

Straddle fracture/Butterfly fracture of the pelvis... It includes fracture of bilateral superior and inferior p***c rami...
24/03/2022

Straddle fracture/Butterfly fracture of the pelvis...
It includes fracture of bilateral superior and inferior p***c rami.
It is considered as an unstable injury.
Mechanism... vertical shear injury.
Important point.... With straddle fractures, there is a chance of injury to the genitourinary tract.

14/03/2022

Mnemonic for Predominantly Lower Lobe Lung Fibrosis...

SIMBA🦁

S: systemic sclerosis and other connective tissue diseases (e.g. rheumatoid arthritis)

I: infection; interstitial pneumonia including usual interstitial pneumonia (UIP), non-specific interstitial pneumonia (NSIP), desquamative interstitial pneumonia.

M: medications (e.g. busulfan, bleomycin lung toxicity, nitrofurantoin, hydralazine, methotrexate, amiodarone)

B: bronchiectasis

A: aspiration, alpha-1 antitrypsin deficiency, asbestosis.

Spider web appearance.... It is a classic appearance seen as a dense network of hepatic venous collaterals on venography...
05/03/2022

Spider web appearance.... It is a classic appearance seen as a dense network of hepatic venous collaterals on venography in a patient with hepatic venous outflow obstruction.

The Martini glass sign... The appearance of the globe in persistent hyperplastic primary vitreous (PHPV).On MRI the retr...
15/02/2022

The Martini glass sign... The appearance of the globe in persistent hyperplastic primary vitreous (PHPV).

On MRI the retrolenticular tissue characteristic of this condition has a triangular shape, like that of a martini glass appearing as low T2 signal against the normal high T2 signal of the globe.

Case 154...Mazabraud syndrome.. It is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxo...
14/02/2022

Case 154...Mazabraud syndrome..
It is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas.

Age.. Mostly females. 35-60 years age with mean age of 40.

Mostly affects pelvic girdle and lower limbs (75%). The upper limbs are less affected. Mostly right side affected. The fibrous dysplasia generally occurs between 6.5-10 years prior to the identification of intramuscular myxomas.

Association.. McCune-Albright syndrome.

Radiographic features.. Fibrous dysplasia... radiolucency with ground glass matrix appearance surrounded by condensed bone, with endosteal scalloping and cortical thinning usually present. Borders are usually well defined and the cortex remains intact but thinned due to the expansive nature of the lesion.

Intramuscular myxomas... Shows hypointense T1 and hyperintense T2 signal on MRI . Four different contrast patterns have been described..

1.peripheral enhancement
2.peripheral and patchy internal enhancement
3.peripheral and linear internal enhancement
4.heterogeneous internal enhancement.

Complications..
Rarely, there may be malignant transformation of the fibrous dysplasia to osteosarcoma, fibrosarcoma, chondrosarcoma, and malignant fibrohistiocytoma.

Nuclear medicine...
Tc 99m-MDP can be used to detect disease extent in the young. Rapid increase in 18-FDG uptake may suggest the possibility of sarcomatous change.

Intramuscular myxomas may show 18-FDG avidity on PET/CT.

Treatment.. Depend on disease extent.
FD.. Bisphosphonates are thought to be useful in recent studies. Some cases with complication require surgical intervention.

Intramuscular myxomas.. Conservative treatment .

Case 153Hirayama disease/ Non-progressive juvenile spinal muscular atrophy...  it is a type of cervical myelopathy that ...
10/02/2022

Case 153Hirayama disease/ Non-progressive juvenile spinal muscular atrophy... it is a type of cervical myelopathy that involves distal upper limbs and is related to flexion movements of the neck.

Age.. Mostly Young males (15-25 years)

Symptoms... muscle weakness and atrophy in the hand and forearm with sparing of the brachioradialis, giving the characteristic appearance of oblique amyotrophy that affects the C7, C8 and T1 myotomes..
amyotrophy is mostly unilateral.

Radiographic features...
On myelograms and flexion-extension MR images, there can be a forward migration of the posterior wall of the dura mater. The posterior epidural space becomes enlarged with flexion and is seen as a crescent.
It also enhances uniformly on post contrast images with or without epidural flow voids.
Chronic microcirculatory changes in the territory of the anterior spinal artery induced by repeated or sustained flexion can be seen.

The Owl-eyes sign/Snake-eyes sign/ Fried-eggs sign....  Bilaterally symmetric circular to ovoid foci of high T2-weighted...
09/02/2022

The Owl-eyes sign/Snake-eyes sign/ Fried-eggs sign.... Bilaterally symmetric circular to ovoid foci of high T2-weighted signals in the anterior horn cells of the spinal cord, seen on axial MR imaging. On sagittal sections "pencil-like" vertical linear high T2-weighted signal extending usually over a number of segments.

Differentials include...
1.Anterior spinal artery ischemia/infarction: common
2.chronic compressive myelopathy:
commonly
a.spondylotic
b. Due to ossification of the posterior longitudinal ligament (PLL)
c. Hirayama disease
3.amyotrophic lateral sclerosis (ALS)
4.neuromyelitis optica (NMO): uncommon 5.poliomyelitis-like syndrome: rare
6.Hopkins syndrome: rare
7.spinal muscular atrophy: rare

Case 151...Osteopathia striata /Voorhoeve disease... It is a rare, benign sclerosing bone dysplasia, involving the epiph...
08/02/2022

Case 151...Osteopathia striata /Voorhoeve disease...
It is a rare, benign sclerosing bone dysplasia, involving the epiphysis and metaphysis of tubular bones.

Age.. It can involve any age group.

Symptoms.. Asymptomatic / mild discomfort in joints.

Associations..
Seen with focal dermal hypoplasia (Goltz syndrome).

Radiographic features...
Prominent vertical striations mainly involving metaphyses and epiphyses of the long bones (celery stalk metaphysis). These changes are typically bilateral, but could be unilateral and involve tubular bones.

Not infrequently there are shared features of melorheostosis and osteopoikilosis, in a so-called overlap syndrome termed mixed sclerosing bone dysplasia. These conditions may share an underlying etiology (loss of function mutations in the LEMD3 gene).

Case 150....Fitz-Hugh-Curtis syndrome/perihepatitis. It is chronic complication of pelvic inflammatory disease (PID). It...
30/01/2022

Case 150....Fitz-Hugh-Curtis syndrome/perihepatitis.
It is chronic complication of pelvic inflammatory disease (PID).
It shows inflammation of the liver capsule and surrounding pertioneum with adhesion formation but with sparing of hepatic parenchyma.

Organism involved...
1. Chlamydia trachomatis (most common 13) 2.Neisseria gonorrhea.
Less common are Trichomonas vaginalis, Ureaplasma urealyticum & Mycoplasma hominis.
The prevalence may be higher in ge***al tuberculosis .

It most commonly occurs in women of childbearing age.. Rarely also seen in males.

Radiographic features...
On CT....
1.Inflammatory changes in both pelvic and perihepatic regions(extending upto right paracolic gutter and also hepatic capsular enhancement) .
2.Tubo-ovarian abscess,
pyosalpinx or fluid collection in the pelvis.
3.Gallbladder wall thickening &
pericholecystic inflammatory change.
4.Transient hepatic perfusion abnormalities.

Treatment... Antibiotics.

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