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2000-07-21-05 Answer of case of the week #30 © Mejia www.TheFetus.net

Answer to case #30

July 21-August 4, 2000

Submitted and discussed by Carlos Alberto Mejia Escobar, MD, Jorge Ramirez, MD,  Jaime Gomez, MD and Oscar Medina, MD Medellin, Colombia

A 17 year old woman, primigravida, with no family history of congenital anomalies was referred for the presence of fetal right leg edema at 20 weeks gestation. This  fetus was scanned at 28 and 32 weeks. Multiple cutaneous hemangiomatas were seen in right lower extremity, right buttock and torso accompanied by right limb hypertrophy since 22 weeks gestation.  Abdominal hemangiomatas was observed at 32 weeks’ gestation and polyhydramnios was present at 34 weeks gestation.  The face was normal and there was size difference between both kidneys (unilateral renal hypoplasia). 

The legs:

 

The abdomen

The kidneys

The chest

The face

 

FINDINGS

Multiple cutaneous hemangiomatas were seen in right lower extremity, right buttock and torso accompanied by right limb hypertrophy since 22 weeks gestation.  Abdominal hemangiomatas was observed at 32 weeks’ gestation and polyhydramnios was present at 34 weeks gestation.  The face was normal and there was size difference between both kidneys (unilateral renal hypoplasia).  The baby was macrosomic and weighed 4200 g at birth.  The birth was a cesarean at 38 weeks.  Nowadays, baby is very well and he has never had cardiac and coagulation problems.

 

DISCUSSION  

Many have suggested PROTEUS SYNDROME.  The common findings in this syndrome are limb enlargement with large, cystic spaces in the soft tissues and overgrowth that may involve the entire body or may be localized but the hemangiomata are focal and commonly there is macrocephaly.

So the question is:  Maybe a HEMANGIOMA ?  This is a common, benign, vascular tumor.  These tumors are vascular hamartomas, some of which can have a lymphangiomatous component but sonographically are solid in appearance.

Many thought of LYMPHANGIOMATA.  These are abnormalities of the lymphatic vessels characterized by cysts within soft tissues usually in nuchal region.  These are usually cystic with septa. 

A few evoked a MAFFUCCI SYNDROME.  It is a rare disease that consists in osteochondromatosis with hemangiomata and the incidence of chondrosarcoma in this disorder is 17-30%.

Finally, many people made the correct diagnosis of KLIPPEL TRENAUNAY WEBER SYNDROME.  This syndrome is characterized by large, cutaneous hemangiomata with hypertrophy of related bones and soft tissues, resulting in gigantism of the affected limb.  This case is that very characteristic and illustrative of this uncommon syndrome 

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