DX: Beckwith-Wiedemann Syndrome

Patient had soft tissue swelling asymmetry only right arm and leg. There was no evidence of fracture or bone anomaly. On x-ray we can show enlargement of the liver because lower border is inferiorly located. Ultrasound measurements (not shown) of liver and right kidney were above normal. Spleen and left kidney were normal in size.

Here are the X-ray images:

One thing I failed to mention is that patient had recurrent episodes of hypoglycemia. This lab test finding coupled with x-ray findings of hemihypertrophy are almost conslusive of Beckwith-Wiedemann Syndrome.

The most important recommendation you can give as a Radiologist is that this baby will need anual screening during his entire lifetime because it's one of the Cancer Predisposition Syndromes in children.

Beckwith–Wiedemann syndrome BWS is an overgrowth disorder usually (but not always) present at birth characterized by an increased risk of childhood cancer and certain congenital features. Originally, Dr.Hans-Rudolf Wiedemann coined the term exomphalos-macroglosia-gigantism (EMG) syndrome to describe the combination of congenital abdominal wall defects, large tongues, and large bodies and/or long limbs. Over time, this constellation was renamed Beckwith–Wiedemann syndrome following the autoptical observations of Prof. John Bruce Beckwith, who observed also severe increase in the size of the adrenal glands in some of these patients. Five common features used to define BWS are: macroglossia, macrosmia (birth weight and length greater than the 90th percentile), midline abdominal wall defects (omphalocele/exomphalos, umbilical hernia, diastasis recti), ear creases or ear pits, and neonatal hypoglicemia.

Thank you for your participation in FB groups specially Dr. Rammohan Vadapalli, Dr. Mohammad Ariwala and Dr. Kandakatla Narahari.

Until next time!

http://emedicine.medscape.com/article/919477-clinical

http://radiopaedia.org/cases/beckwith-wiedemann-syndrome

http://radiology.rsna.org/content/224/2/375.full.pdf

CASE 32: Newborn male with shoulder dystocia and arm swelling

Patient was reffered to us with history of complicated vaginal delivery. He had shoulder dystocia and when delivered, turned out to be marcrosomic. She had birth control and previous US showed that baby was large for gestational age but mother was quite big and she wanted vaginal delivery so OBs decided to hold c-section. Mother was 47 years old!.

After delivery, PEDs noted a swollen right arm and macroglosia. They asked us if there were signs of  clavicle fracture or luxation due to history but there was no pain on arm or neck. Also no palpable mass. Anyways at that time they were suspecting also some congenital anomaly even though patient didn't have clear physical stigmata.

Here are the images:

He apparently had right leg swelling, unnoticed before.

Findings?..what other exam would you recomend for this case?

Later I'll post the conclusion.

DX: Brain Dural Arterio-Venous Fistulae (Borden Type I) with concomitant Aneurysms

Ok past post I didn't include CT scan so here it goes: (CT images provided by Tecniscan of Guatemala)

CT scan shows an acute hemorrhage over parieto-occipital lobe. Volumetric reconstruction shows a suspicious abnormal vessel in subcortical region below the hemmorrhage but it was not very conclusive so she underwent a brain angiography.

This study in AP projection showed abnormal saculations in posterior temporal artery and SUCA segments. Also, there's an assymetry on parieto-occipital branches with more widening on right side. Cappilary phase (see previous post) showed perivascular staining due to hemorrhage. Early venous phase shows an abnormal comunication to superior sagital sinus. This was confirmed in lateral projection.

Findings are consistent with Dural AV fistulae with concomitant aneurysms.

The association of aneurysms and cerebral arteriovenous malformations is well established in the literature. Aside from a small number of case reports and small patient series, this association has not been well explored with cerebral dural arteriovenous fistulas.

Brain arteriovenous fistulas are rare neurovascular lesions of the brain (accounting for only 1.6%–4.7% of all brain AV malformations) that have been considered a distinct pathologic entity from other brain AV malformations (BAVMs). BAVFs differ from BAVMs in that they lack a true nidus and differ from dural arteriovenous fistulas (AVFs) in that they derive their arterial supply from pial or cortical arterial vessels, and the lesion does not lie within the dural leaflets. 

They are composed of a single venous channel in communication with 1 or more arterial connections, with no intervening nidus of vessels. Because of their high-flow nature, they often are associated with a venous varix and have a poor natural history. The pathologic aspects of BAVFs arise from their high-flow dynamics. The complex hemodynamics of large AVFs makes them challenging lesions to treat. Endovascular management of high-flow AVFs has not always been successful in previous literature so these malformations have to be treated with surgery, with or without endovascular techniques. In this case, we decided not to perform endovacular embolization and neurosurgeon decided that it was as peripheral as needed to be treated surgically.

Grading scales based on the anatomy of venous outflow have been developed to predict the risk of brain hemorrhage. According to the Borden-Shucart grading system, type I dural arteriovenous fistulas exhibit antegrade drainage through a venous sinus; type II exhibit antegrade venous sinus and retrograde cortical venous drainage; and type III exhibit only retrograde cortical venous drainage. 

The University of California, San Francisco also developed a grading system.

For more info, 

http://www.medscape.com/viewarticle/763632_4

http://neuroangio.org/patient-information/patient-information-brain-dural-fistula/

http://www.ajnr.org/content/30/4/851.full.pdf+html

http://www.thebarrow.org/Neurological_Services/Aneurysms_and_Cerebrovascular_Disorders/203378

Thank you for your valuable participation in FB groups, to Dr. Roopa Seshadri and Dr. Pankaj Sharma.

CASE 31: Young female patient with seizures.

This case was in colaboration with Dr. Cáceres, we both performed this study.

Ok, this was an 8 y/o female patient with seizures. CT scan (not shown) revealed an hemorrhagic focci in right parietal lobe in subcortical region. No history of trauma or perinatal pathological background. She had 1 previous episode of seizure three years ago and was treated as an epilepsy. We conducted in another Hopsital (Sanatorio El Pilar) a cerebral angiography.

Here are the relevant images:

Arterial phase

Capillary phase

Venous phase

Capillary and venous phase

Findings and conclusion will soon be posted.

DX: Klippel-Trenaunay-Weber Syndrome

This is a rare case that can actually be diagnosed clinically. Young patients with swollen leg, vascular ectasia and port wine stains are to consider. Radiographic findings may vary but usually are more depicted on MRI.

The most common major imaging finding is overgrowth of subcutaneous soft tissues in the lower limbs particularly unilateral as in this case. Vascular overgrowth appears as an area with slow uptake of contrast material in the delayed phase, a finding indicative of low flow. Deep venous malformations are commonly seen in the femoral vein. Because of overgrowth of soft tissues, the affected limb is usually thicker and longer than the nonaffected limb.

Unfortunately treatment is symptomatic and conservative in most cases and to prevent thrombophlebitis, celulitis mostly.

Here is a video that I found in Youtube similar to this case:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001205/

http://emedicine.medscape.com/article/1084257-overview

Thank you for your participation on FB groups, Twitter, and this platform. Look for my profile in Radiopaedia, I'll be posting most of my blog cases.

Part 2 of previous case..

Just a reminder...

It was a female patient with history of a growing mass felt on the lower abdomen that has been progressively becoming painful associated with swelling of the left leg. MRI was done and I promised an AngioMR..arterial and venous angiogram..here it is:

Findings and differentials??...soon the conclusion

CASE 30: Mid 30's female patient with abdominopelvic mass

This case is a contribution from the Radiology Department of one of the most prestigious hospitals in Guatemala called Centro Médico.

It was a female patient with history of a growing mass felt on the lower abdomen that has been progressively becoming painful associated with swelling of the left leg. At physical exam, presents varicose veins on the swollen left leg.  She has no other disease to our concern. She was brought to the Department with a previous Doppler ultrasound that showed a vascular mass so we conducted an AngioMR to discard AVM.

Here are the relevant images (click to enlarge):

Axial Fat Sat parallel to mass level

Axial Fat Sat perineum

Axial Fat Sat lower level

Axial Fat Sat distal thigh

T2

T2

T2

T2

Post Gad

Post Gad

T1 coronal

Post Gad Coronal

Later on I'll post the angio...but with these findings and history is almost definitive the diagnosis. Feel free to comment.