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2010-09-16-11 Answer to the case of the week #286 © Al-Asali www.TheFetus.net
Answer to the case of the week #286

February 3-17, 2011.


Othman Al-Asali
, MD*, Ikram Abo-Almaged, MD*, Amal Al Taher, MD**, Manal Al-Hakeem, MD**.

*  Maternity Department, Al-Hammadi Hospital, Riyadh, Saudi Arabia.
** Department of Radiology, Al-Hammadi Hospital, Riyadh, Saudi Arabia.


Case report

A 24-year-old G1 P0 with unremarkable personal or family history was referred to our center for the ultrasound scan at 22 weeks of gestation. Patient had a consanguineous marriage: the parents were first-degree relatives. A TORCH examination was negative, but the patient suffered from anemia caused by iron deficiency.

We have performed 2 subsequent ultrasound examinations at 23 and 27 weeks of gestation. We observed the following findings:

  • High placenta, increased amount of the amniotic fluid
  • Multiple echo and anechogenic formations near the caudal part of the spine and buttocks
  • Multiple cutaneous formations covering the whole body surface, both echo and anechogenic
  • Both lower extremities with clubfoot and hypertrophy of the subcutaneous tissue
  • Heart, skull, face and kidneys of normal appearance

The patient delivered prematurely at 33 weeks of gestation, very likely result of the uterine distention caused by increased amount of the amniotic fluid. The newborn was a girl who had a giant hemangiomas involving the trunk and both lower extremities. She was immediately transferred to neonatal intensive care unit.

There were multiple hemangiomas of various depth, involving skin, subcutaneus tissue and muscles. The final diagnosis based on clinical findings was Kli
ppel-Trenaunay-Weber Syndrome.

The neonate died 14 days after delivery due to cardiopulmonary arrest, severe anemia, thrombocytopenia, and respiratory distress.

Images 1,2: Sagittal and coronal view of the trunk. Note redundant subcutaneous tissue.

 

Images 3,4: Image 3 shows a sagittal view of the abdomen and lower extremities, note multiple echogenic and anechogenic cutaneous formations. Image 4 shows a transverse view of the abdomen.



Images 5,6
: Transverse view of the abdomen at the level of kidneys with multiple cutaneous echo and anechogenic structures. Image 6 shows a femur with hypertrophic tissue of the lower extremity.



Images 7,8
: Lower extremities. Image 8 shows hypertrophic tissue of the thigh and buttocks.



Images 9,10: Image 9 shows lower extremity. Image 10 shows hand with syndactyly of four fingers and abduction of the thumb.



Images 11,12: 3D-images nicely showing the "bumpy" skin surface of the lower extremities and buttocks.



Images 13,14: Image 13 shows a neonate after delivery. Head is of a normal appearance, trunk and both lower extremitites are hypertrophic and deformed by large cutaneous hemangiomas. Image 14 shows a right arm, note the abduction of the thumb and syndactyly.  



Images 15,16: Images show details of both legs, note multiple hemangiomas and clubfoot.



Images 17-20: X-ray of the neonate after delivery. Note tissue swelling on lower limbs and abdomen.






Klippel-Trenaunay-Weber Syndrome

Common findings
  • Multiple cutaneous hemangiomas - echo, anechoic areas, affect mainly lower extremities, buttocks, abdomen
  • Usually unilateral predominance
  • Limb hypertrophy
  • Long bones asymmetry - affected bone is longer

Occasional findings
  • Arteriovenous fistulas, lymphangiectasis
  • Syndactyly, polydactyly, macrodactyly
  • Asymmetric facial hypertrophy
  • Calcifications of brain, macrocephaly
  • Cataracts
  • Visceral involvement: visceromegaly, ascites, urinary, GI tract, pleura and mesentery hemangiomas
  • Cardiomegaly, hydrops, cardiac failure
Differential diagnosis
  • Proteus syndrome
  • Sturge-Weber syndrome (angiomas of the meninges and hemangiomas of the face)
  • Maffucci syndrome (enchondromas, bone deformities, hemangiomas)







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