Systemic congenital lymphangiomatosis

C A S E

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IlEPORT

L ig ia M a r ia S u p p a d e S o u z a , M a r ia R e g in a B e n t lin , E lia n a S o u t o d e A b r e u , C a r lo s E d u a r d o B a c c h i

System ic congenitallym phangiom atosis

B o tu c a tu S c h o o l o f M e d ic in e , U N E S p ' B o tu c a tu - S ilo P a u lo , B r a z il

S y s te m ic Iy m p h a n g io m a to s is is a ra re d is e a s e c h a ra c te riz e d b y th e e x a g e ra tio n o f ly m p h a tic c h a n n e l p ro life ra tio n , o c c u rrin g in c h ild re n a n d y o u n g a d u lts . W e d e s c rib e a n e x tre m e ly ra re c a s e o f c o n g e n ita l s y s te m ic Iy m p h a n g io m a to s is in a n e w b o rn w h o h a d a s c itis a n d re s p ira to ry fa ilu re d e v e lo p im m e d ia te ly a fte r d e liv e ry . D e a th o c c u rre d d u rin g th e firs t h o u r o f life . A u to p s y fin d in g s s h o w e d n u m e ro u s c y s ts in s o ft tis s u e s o f th e c e rv ic a l a re a , m e d ia s tin u m a n d d ia p h ra g m , a n d s e v e ra l o th e r o rg a n s in c lu d in g th e liv e r, s p le e n , th y ro id a n d k id n e y s . T h e s e v e re a n d d iffu s e in v o lv e m e n t w ith c y s ts in b o th lu n g s b y Iy m p h a n g io m a to s is w a s a s s o c ia te d w ith p o o r p ro g n o s is a n d d e a th in o u r c a s e .

U N IT E R M S : L y m p h a n g io m a to s is . L y m p h a n g io m a . C o n g e n ita l Iy m p h a n g io m a to s is .

IN T R O D U C T IO N

L y m p h an g io m ato sis is a rare d iso rd er ch aracterized

b y p ro liferatin g ly m p h atic ch an n els in o sseo u s o r

ex trao sseo u s tissu es, in a d iffu se fash io n . T h is ty p e o f

cy stic an g io m ato sis rep resen ts a g en eralized ly m p h atic

ab n o rm ality , an d m an y o f th e cases o ccu r in ch ild ren an d

y o u n g ad u lts. 1 .2T h e p ro g n o sis is d ep en d en t u p o n th e ex ten t

o f d issem in atio n , b ein g v ery p o o r w h en v ital o rg an s are

affected .2

.3.4 W e rep o rt, as far as w e are aw are, th e first case o f sy stem ic co n g en itally m p h an g io m ato sis d escrib ed

in th e literatu re. A u to p sy fin d in g s, im m u n o h isto ch em ical

stu d y an d rev iew o f literatu re are also p resen ted .

A d r e s s f o r c o r r e s p o n d e n c e : C a r lo s E d u a r d o B a c c h i

F a c u ld a d e d e M e d ic in a - U N E S P - O e p t o . d e P a t o lo g ia B o t u c a t u / S P - B r a s il- C E P 1 8 6 1 8 - 0 0 0

C A S E R E P O R T

A 3 .2 k g fem ale in fan t w as d eliv ered at 3 4 w eek s

g estatio n b y C aesarean sectio n , w i th a p red el i v ery

d iag n o sis o f fetal ascitis. W h en sh e w as b o rn . A p g ar w as

2 -1 -1 , an d th e p h y sical ex am in atio n rev ealed larg e ascitis,

an ab d o m in al tu m o r m ass, cerv ical g ib b o sity an d fro n tal

h y p ertrich o sis.

P aracen th esis w as p erfo rm ed w ith th e w ith d raw a o f

5 0 0 m l o f sero san g u in eo u s flu id . S h e d ev elo p ed

card io resp irato ry arrest, an d d eath o ccu rred w ith in th e first

h o u r o f life. P o st-m o rtem x -ray ev alu atio n rev ealed n o rm al

b o n e fo rm atio n .

A u to p s y F in d in g s : F ig u res ) to 3 d em o n strate th e

m acro sco p ic an d m icro sco p ic fin d in g s. D u rin g au to p sy ,

th e th o racic o rg an s w ere co m p ressed b y th e 1 ,0 0 0 m )

ascitis. T h e v isceral su rface o f th e lu n g s rev ealed m u ltip le

su b p leu ral cy sts. T h e p u lm o n ary cu t su rface sh o w ed cy stic

cav ities o f sev eral sizes m easu rin g u p 0 .8 cm , w h ich w ere

freq u en tly m u lti lo cu lated an d u su ally co n tain ed clear

S a o P a u lo M e d ic a l J o u rn a l/R P M 1 1 4 (5 ): 1 2 7 8 -1 2 8 1 , 1 9 9 6 S O U Z A , L .M .S .; B E N T L lN , M .R .; A B R E U , E .S . & B A C C H I, C .E .

1279

diagnosed at alm ost any age, including

the pediatric group.

Several authors have considered

Iym phangiom atosis as a benign vascular

tum or or part of a system ic cystic

angiom atosis syndrom e. I. 3

Lym phangiom atosis can be

classified into three categories: I. Si m ple:

com posed of capillary-sized, thin-w alled

lym phatic channels; 2. C avernous: m ade

w ith fibrous adventitial coats; 3. C ystic.

The case reported here can be classified

as system ic m ixed type of si m ple and

cysts. A m ong the localized form s of

Iym phangiom atosis, the osseous type is

the m ost com m on and usually has good

prognosis w ith the diagnosis being m ade

late in life.I

.5 As in our case, the systemic

form usually involves lungs, pleura, soft

tissues, liver spleen, kidneys and large

in testi nes.2.6

The clinical presentation of

Iym phangiom atosis depends on the anatom ic site and

the extension of involvem ent. It can m anifest w ith

anorexia, localized pains, hepatosplenom egaly, ascitis,

and several degrees of respiratory distress and m ultiple

osseous fractures.3 _{The final clinical diagnosis is usually}

difficult due the rarity of this disease and diversity of

signs and sym ptom s.

F ig u re 2 - L o n g itu d in a l c u t o f d ia p h ra g m re v e a lin g m u ltip le c y s ts p re s e n t in a b d o m in a l s u rfa c e .

D IS C U S S IO N

Lym phangiom atosis is a rare

condition occurring equally in both

sexes and characterized by m ultifocal

pro Iiferation 0f lym phatic vessels that

are lined by cytologically benign

endothelia. I This disease does not

appear to be hereditary,5 and has been

proteinaceous fluid (Fig. I). The sam e type of cysts w ere

visualized in soft tissues of cervical area; m ediastinum and

diaphragm (Fig. 2); and also in several organs, nam ely the

spleen, liver, thyroid and both kidneys. B one abnorm ality

w as not present. M ultiple cysts, including a large 3.0 cm

one, w ere present betw een the gastric serosa and splenic

hilus. These cysts com pressed the portal vascular system ,

causing portal hypertension w ith

throm bosis of the portal vein and ascitis.

M icroscopically, all the cysts w ere

form ed by proliferation of anastom osing,

thin-w alled lym phatic channels (Fig. 3).

These vessels w ere lined by flattened

endothelial cells that stained positively

w ith an im m unohistochem ical stain for

factor V III related antigen.

F ig u re 1 - P u lm o n a ry c u t s u rfa c e s h o w in g c y s tic c a v itie s o f s e v e ra l s iz e s in b o th lu n g s .

S O U Z A , L .M .S .; B E N T L lN , M .R .; A B R E U , E .S . & B A C C H I, C .E . -S y s te m ic c o n g e n ita l Iy m p h a n g io m a to s is

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F ig u re 3 - P re se n ce o f cysts fo rm e d b y p ro life ra tio n o f a n a sto m o sin g , th in -w a lle d

lym p h a tic ch a n n e ls in su b se ro sa a re a o f g a stric w a ll (H E x 2 0 0 ).

Radiological examination may be helpful in the diagnosis, depending on the anatomical location of the lesions. It may reveal mediastinum enlargement, lytic lesions and fractures.2 _{Ultrasound study is of value to} visualize visceral involvement and possible compression of vascular structures. I There are no

laboratory tests patognomonic of lymphangiomatosis, and biopsy is the only procedure to be used for the diagnostic conclusion.

The choice of treatment for Iymphangiomatosis depends on the severity and type of involvement; namely, treatment of fractures and surgical procedure to remove cysts compressing vital structures.2.7

The severity of Iymphangiomatosis is related to the anatomical site and extent of involvement. It has a favorable prognosis when it is localized, and a poor

prognosis when vital organs, including vertebral medulla, are involved.3 _When

the disease is diffuse and extensive in a particular organ, as in the lungs in our case, the prognosis is also very poor.

The principal differential diagnoses of Iymphangiomatosis are: Iymphangio-myomatosis, which is described more often for women in reproductive life; pulmonary interstitial emphysema, especially in newborns who have undergone mechanic venti Iation; Gorham's disease, which is characterized by regional or focal involvement of the bones; pulmonary capillary Iymphangiomatosis associated with capillary proliferation of alveolar septa; and signs and symptoms of pulmonary hypertension3 _{and congenital pulmonary}

Iymphangectasia due to a primary defect of the development of lymphatic vessels or secondary to cardiovascular alterations. Our patient presented a severe systemic involvement of Iymphangiomatosis at the neonatal period. This presentation seems to be extremely rare, and to our knowledge is the fi rst case ina newborn described in the literature. The patient already had an important manifestation of her disease, still intrauterus, characterized by ascitis, which was cause by the compression of the portal system by multiple cysts presented in the splenic hilus. Also, the severe pulmonary involvement with large number of cysts in both the lung parenchyma and subpleural regions was probably responsible by respiratory failure, also aggravated by ascitis. The autopsy confi rmed the diffuse and severe involvement of both lungs by Iymphangiomatosis, which is associated with very poor prognosis and led to early death in our case.

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RESUMO

A lin fo a n g io m a to s e e u m a d o e n Q a ra ra , c a ra c te riz a d a p e la e x a rc e b a Q a o d a p ro life ra 9 a o d o s c a n a is lin fa tic o s , o c o rre n d o e m c ria n 9 a s e a d u lto s jo v e n s . N 6 s d e s c re v e m o s u m c a s o e x tre m a m e n te ra ro d e lin fo a n g io m a to s e s is te m ic a c o n g e n ita , e m u m re c e m -n a s c id o q u e a p re s e n ta v a a s c ite e in s u fic ie n c ia re s p ira t6 ria , d e s e n v o lv id o s im e d ia ta m e n te a p 6 s 0 n a s c im e n to . 0 6 b ito o c o rre u n a s p rim e ira s h o ra s d e v id a . A c h a d o s d e a u t6 p s ia d e m o n s tra ra m n u m e ro s o s c is to s e m te c id o m o le d a re g ia o c e rv i-c a l, m e d ia s tin o , d ia fra g m a , e e m d iv e rs o s o u tro s 6 rg a o s in i-c lu in d o : ffg a d o . b a 9 0 , tire 6 id e e rin s . 0 g ra v e e d ifu s o a i-c o m e tim e n to d e c is to s n o s p u lm 6 e s p e la lin fo a n g io m a to s e fo i a s s o c ia d o a o m a u p ro g n 6 s tic o e m o rte n o c a s o re la ta d o .

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S O U Z A , L .M .S .; B E N T L IN . M .R .; A B R E U . E .S . & B A C C H I. C .E .• S y s te m ic c o n g e n ita l Iy m p h a n g io m a to s is