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.