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2013-04-27-10 Cervico-thoraco-brachial cystic lymphangiomas in Proteus syndrome © Saadi www.TheFetus.net

 

Cervico-thoraco-brachial cystic lymphangiomas in Proteus syndrome

 

Hanane Saadi1; Najia Hmidani1; Sanaa Errarhay1; Fouzia Hmami2; Chahrazed Bouchikhi1; Abdelhak Bouharrou2; Abdelaziz Banani1.

1  Department of gynecology-obstetric, University Hospital Hassan II, Fez 30 000, Morocco;
2  Neonatal Intensive Care Unit, University Hospital Hassan II, Fez 30 000, Morocco.

 

Introduction

Cystic lymphangiomas represent rare benign tumors of childhood. Two thirds of these cases are diagnosed during prenatal period.

Proteus syndrome is a rare condition characterized by disproportional 
overgrowth of the bones, skin, and other tissues. Neonates with Proteus syndrome have few or no signs of the condition and overgrowth may become apparent a few months later. The syndrome is associated with macrodactyly, bone tumors, subcutaneous or skin tumors (nevi) and vascular malformations (capillary, venous, or rarely lymphatic malformations). Prognosis is related to the mass effect of the tumors on adjacent organs.


Case report

 A 27-year old primigravida from non-consanguineous couple was admitted to our department due to fetal malformations. Fetal biometry was consistent with 28 weeks of pregnancy and two multicystic tumors were observed in cervical (60 x 67 mm) and cervico-thoraco-brachial (146 x 141 mm) regions of the fetus. The lesions were avascular. The findings indicated diagnosis of fetal lymphangiomas.

The neonate was delivered via cesarean section at 34 weeks due to transverse presentation of the fetus (Apgar 4, 7). The findings of giant lymphangiomas were confirmed. The cervical lymphangioma caused tracheal compression and hindered attempts of tracheal intubation. Additionally the right hand of the newborn presented with macrodactyly of the third finger.  The right hand carries a macrodactyly of third ray (Figure 
2).  Diagnosis of the Proteus syndrome was postulated by geneticist. The neonate died 12 hours after delivery.


Figures 1, 2: Obstetrical ultrasound at 28 weeks of gestation showing two images of multicystic fetal tumors in cervical region (Figure 1) and cervico-thoraco- brachial region (Figure 2).

 

Figure 2: Postnatal appearance of the neonate carrying signs of the Proteus syndrome: multicystic lymphangiomas in cervical and cervico-thoraco-brachial regions, macrodactyly of the third finger of the right hand (red triangle), long face, dolichocephaly, down-slanting palpebral fissures, low nasal bridge, and wide anteverted nares. 



Discussion

Lymphangiomas are non-infiltrating cystic tumors containing non-communicating lymphatic sequestrations that have developed outside the lymphatic system. 75% of the cases are localized in cervical, 15% in axillar, and 10% in cervico-mediastinal and retroperitoneal splenic or colonic regions. In the mediastinum, the cystic lymphangiomas tend to develop between the normal structures, and their mass effect on the airways (as it was in our case) is rare and leads to death in 3.4% of cases [2].

Detection of lymphangiomas is based on prenatal two-dimensional ultrasound where they appear as anechoic, thin-walled multilocular masses of variable size. The cystic content may be heterogeneous in some cases. Color Doppler may demonstrate a small vascular flow within the septa.

Prenatal ultrasound specifies locations of cystic lymphangiomas and allows differentiating them from cystic hygroma. Fetal MRI may be helpful in assessment of extension of the masses and their relation to surrounding organs of the mediastinum. The cystic lymphangiomas may be associated with all forms of haemolymphatic malformations [3].


Four main rare syndromes have been described in association with these tumors: Klippel-Trenaunay syndrome, Parkes-Weber syndrome, Maffucci syndrome and Proteus syndrome [4].

The Proteus syndrome is characterized by disproportional overgrowth of various organs - from macrodactyly to hemi-hypertrophy of the body, bony, subcutaneous, or skin tumors (nevi), and vascular malformations [5]. Most of the time, the capillary and venous malformations are present, while lymphatic tumors are less common. The lymphangiomas may cause dystocia during delivery. Other complications like hemorrhage, inflammation, infection, and mass effect of on adjacent organs may also occur.


References

 [1] Brasseur A, Seryer D, Plancq MC, Krim G, lanta S et le Blanche A. Lymphangiome kystique thoraco-brachial dans le syndrome de orotée : diagnostic anté natal et suivi par IRM. J. Radiol. 2009; 90 : 608-11. 
[2] Koeller KK, Almo L, Adair CF, Smirniotopoulos JG. Congenital cystic masses of the neck. Radiographics. 1999; 19:121-46.
[3] wierabicka E, Herbreteau D, Robert M, Lorette G. Cystic lymphatic malformations. Ann Derm Venereol. 2006 ; 133 : 597-601.
[4] salazard B, Loudner J, Casanova D, Bardot J, Magalon G. The lymphatic malformations: clinical aspects and evolution. Ann. Chir Plast Esthet. 2006; 51: 412-22.
[5] Cohen Jr. MM. Proteus syndrome an update. Am. J. Med Genet. 2005; 137:38-52.

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