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Hereditary Lymphedema in Hereford Cattle

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Ana L. Schild
Ana L. Schild
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Maria C. Mendez
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Congenital lymphedema is described in Hereford cattle. The disease was characterized by edema of the hind limbs, sometimes forelimbs, tail, and prepuce. Lymphatic system lesions were hypoplasia and aplasia of lymph vessels and prescapular, iliofemoral, and popliteal lymph nodes. Test matings demonstrated the transmission of the disease by an autosomal dominant trait with variable expressivity and incomplete penetrance.
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Investigation
Journal of Veterinary Diagnostic
http://vdi.sagepub.com/content/3/1/47
The online version of this article can be found at:
DOI: 10.1177/104063879100300110
1991 3: 47J VET Diagn Invest
Ana L. Schild, Franklin Riet-Correa and Maria C. Mendez
Hereditary Lymphedema in Hereford Cattle
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J Vet Diagn Invest 3:47-51 (1991)
Hereditary lymphedema in Hereford cattle
Ana L. Schild, Franklin Riet-Correa, Maria C. Mkndez
Abstract.
Congenital lymphedema is described in
Hereford cattle.
The
disease was characterized by edema
of the hind limbs, sometimes forelimbs, tail, and prepuce. Lymphatic system lesions were hypoplasia and aplasia
of lymph vessels and prescapular, iliofemoral, and popliteal lymph nodes. Test matings demonstrated the
transmission of the disease by an autosomal dominant trait with variable expressivity and incomplete penetrance.
Congenital hereditary lymphedema is a disease of Hereford bull. Of the 300 calves born during 2 years,
the peripheral lymphatic system that affects many spe- 19 were affected with the disease. Ten of the affected
ties, including humans. The disease is characterized calves were males, 4 were females, and 5 were of un-
by edema usually involving the extremities, and, in the recorded sex. All were Hereford or Hereford cross-
case of dogs, other body regions? Two forms are de- breeds.
scribed in the Ayrshire breed:3,9 a generalized form The Hereford bull was transferred to another farm
affecting the whole body and a slight form affecting where he was used, with 3 other bulls (2 Hereford and
head, neck, limbs, and tail.31 Nelore), to service 80 cows during a 2-year period.
The objective of this report is to describe a congenital From 124 calves born during that period, 17 (9 males
hereditary lymphedema in Hereford cattle and their and 8 females) were affected with lymphedema.
crossbreeds, including the results of test matings with The male descendants of the affected bull were cas-
the Hereford bull suspected of transmitting the disease. trated and the females slaughtered. As a consequence,
Materials and methods
no more cases of lymphedema appeared after 1983 on
the 2 farms. The incriminated bull was transferred to
The epidemiologic studies of the disease were performed the experimental station of the Veterinary Faculty for
through periodic observation of 2 herds of cattle from 1981 genetic studies.
to 1987. Twelve affected. animals, 6 males and 6 females,
and 3 nonaffected Hereford calves from another herd were
Clinical signs.
The disease was observed by the
necropsied for pathologic studies. For observation of lym- owner in the affected calves at birth or some months
phatic vessels, Methylene blue dye in 5% solution was in- after parturition. It was characterized by edema af-
jected into the interdigital space of the hind and forelimbs fecting the limbs, tail, and prepuce to different degrees
of 11 animals l-4 hr before slaughter. Prescapular, iliofemo- (Fig. 1). In mild cases, slight edema appeared at the
ral, and popliteal lymph nodes were dissected and weighed. fetlock and distal metatarsal region of the hind limbs.
All organs and lymph node samples were fixed in 10% for- In severe cases, the swelling was observed in the hind
malin, embedded in paraffin, sectioned at 6 µm, and stained limbs below the femoral-tibia1 joint, in the forelimbs
with hematoxylin and eosin (HE). below the carpus, in the tail, and in the prepuce of
Twenty unrelated Hereford cows and 3 crossbreed cows, males. In these cases, the skin of the hind limbs showed
Charolais x Ibagé, were mated over a 4-yr period with the
Hereford bull suspected of transmitting the disease. The bull
transverse fissures, mainly in front of the stifle and in
was also mated with 9 of his daughters over a 3-yr period.
the posterior fetlock
Gross lesions.
In the 12 affected necropsied animals,
Results
5 showed edema of hind and forelimbs, tail, and pre-
Epidemiology.
Lymphedema was originally ob- puce, and the others had a moderate or slight edema
served on 2 farms in the municipality of Bagé, southern in the hind limbs and sometimes the forelimbs.
Brazil, where it affected only Hereford cattle and their The skin was thickened, mainly in the areas where
crossbreeds. the edema was most prominent. In the transverse fis-
In 1979 and 1980, the cows on the first farm were sures, when present, there was ulceration of the skin
inseminated with semen from nonHereford bulls. After and sometimes a brownish exudate or necrotic areas
the insemination period, the cows were mated with a associated with myiasis by Cochliomia hominivorax.
The subcutaneous tissue had translucent edema. There
was proliferation of subcutaneous fibrous tissue, and
From the Regional Diagnostic Laboratory, Faculty of Veterinary the muscles were swollen, pale, and hard.
Medicine, Pelotas University, 96100-Pelotas, RS, Brazil. Prescapular and iliofemoral lymph nodes were
Received for publication June 20, 1990. smaller than in the control animals. Both popliteal
47
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Figure 1.
A1-year-old Hereford steer with edema of hind and forelimbs, prepuce, and tail. Note transverse fissures in the hind limbs.
lymph nodes were absent in 5 cases, whereas in 2 other
cases only the left node was developed. When present,
the lymph nodes were considerably reduced in size.
A clear fluid was present in the pleural and peritoneal
cavities in 4 calves with severe edema of the limbs,
tail, and prepuce, and in 1 calf in which clinically de-
tectable edema was restricted to the hind limbs. In
severe cases, there was also a slight edema of subcu-
taneous tissue of the head.
The superficial lymph vessels were absent in some
affected animals. In these cases the Methylene blue was
spread within the subcutaneous tissue of the fetlock.
Other affected cattle showed 1 or 2 thin vessels or a
uniquely enlarged irregular channel. The number of
lymphatic vessels observed in each limb of the affected
calves is shown in Table 1.
The weights of the prescapular, iliofemoral, and pop-
liteal lymph nodes from 11 affected calves and from 2
control calves are shown in Table 2. The affected calves
were grouped according to size.
Microscopic lesions.
The histologic lesions were
characterized by hypoplasia, edema, and eventually
sclerosis of the lymphatic sinuses. The lesions were
mainly confined to the peripheral and mesenteric lymph
nodes.
The prescapular, iliofemoral, and popliteal lymph
nodes were reduced in size, but their overall architec-
ture was maintained. The cortex was narrow with or
without active lymphoid follicles. As a consequence of
the edema, the cells of the external cortex and para-
cortical region were dissociated (Fig. 2), giving the nodes
a hypocellular appearance. The medulla was distended
as a consequence of edema, with the medullary cords
practically absent (Fig. 3). The lymphatic sinuses were
distended.
Collagen sclerosis was observed mainly on medullar
lymphatic sinuses, with conjunctive and fibrous tissue
proliferation forming irregular channels (Fig. 4).
A subacute lymphadenitis of the peripheral lymph
nodes in 1 animal was characterized by numerous im-
munoblasts and by the presence of active venules in
the paracortical zone. The medullar zone was full of
plasmocytes and plasmoblasts.
The efferent lymphatic vessels of the hilar region
were dilated, with endothelial proliferation forming
valvelike structures in some cases.
The subcutis was thickened by collagen fiber prolif-
eration.
Other organs did not have significant lesions.
Genetic studies.
The results of test matings between
the bull and his daughters or unrelated cows are shown
in Table 3. The 8 calves born with signs of the disease
Table 1. Distribution of lymphatic vessels in each limb of 11
calves with congenital lymphedema.*
Limb
No vessels
1
vessel
2 vessels
Right forelimb
38
0
Left forelimb
1
82
Right hind limb
9
1
1
Left hind limb
7
40
*Three control animals had 2 lymph vessels in each limb.
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Hereditary lymphedema
49
Table 2.
Weights of lymph nodes from calves affected with lymphatic hypoplasia and from control calves.
showed retarded growth as compared with the nonaf-
fected animals, and 4 of the 8 died within the first year.
All affected calves were apathetic before death, with
signs of weakness. In 1 case, severe recurrent skin le-
sions were observed. In the summer, these lesions were
associated with myiasis by Cochliomia hominivorax.
Another calf showed intermittent diarrhea before death.
The macroscopic and histopathologic findings were
similar to those observed in the affected calves born
on the farms.
Discussion
The results of this study confirm the occurrence of
hereditary congenital lymphedema in Hereford cattle.
Of the 28 calves born from unrelated Hereford and
Charolais cows mated with the suspect bull, 4 (14.3%)
were affected (3 Herefords and 1 crossbreed), dem-
onstrating the transmission of the disease by an au-
tosomal dominant trait. However, the number of af-
fected calves was lower than expected from Mendelian
principles for a dominant trait (50%). This low number
could result from incomplete penetrance of the gene
or a variation of the expression of the gene, resulting
in the occurrence of subclinical cases of lymphatic hy-
poplasia. This variation in expression is evident in the
different degrees of edema observed, including 1 case
in which the edema was only detected during the nec-
ropsy. In humans, the presence of an apparent
“skipped” generation represented by individuals with
minimal lymphedema has been reported.4
Figure 2.
Photomicrograph of a section of popliteal lymph node from calf with congenital lymphedema. Note edema of subcapsular
and medullar sinuses, and narrow cortex with few small follicles. HE stain.
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50
Schild, Riet-Correa, Méndez
Figure
3.
Photomicrograph of the medulla of popliteal lymph node from calf with congenital lymphedema. Note marked edema with
dissociated lymphocytes, plasmocytes, and plasmoblasts. HE stain.
Figure
4.
Photomicrograph of a section of popliteal lymph node from calf with congenital lymphedema. Note collagen sclerosis of the
medullar zone and lymphatic sinuses with fibrous tissue proliferation. HE stain.
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Hereditary lymphedema
51
Table 3.
Results of matings of a Hereford bull suspected of car-
rying congenital lymphedema with his daughters and unrelated cows.
Hereditary congenital lymphedema has been pre-
viously described and is thought to be transmitted as
a recessive trait in Ayrshire cattle,3as an autosomal
dominant in dogs, 1,2 and as a dominant trait in hu-
mans.4
In the disease described here, the distribution of the
edema is very similar to that described in humans, in
which the edema affected mainly the lower extremities
and less frequently the upper extremities and genital
organs.4A similar distribution has been described in
dogs7in addition to instances of generalized edema.2,6,8
However, the Hereford lymphedema appears to be dif-
ferent from the disease observed in Ayrshire cattle. In
Ayrshires, mild cases with slight edema of the limbs
were observed, but more affected animals had marked
edema in the head, mainly in the ears and interman-
dibular space; calves with generalized edema were also
reported. 3,9 Transverse fissures of the skin appear to
be caused by the lack of elasticity resulting from edema
and subcutaneous fibrous tissue proliferation. These
lesions were more frequent in front of the stifle and in
the posterior fetlock, probably as a consequence of
joint flexion during movements. The gross and his-
tologic changes observed in peripheral lymph nodes,
such as reduced size, absence of follicles, narrow cor-
tex, and absence of popliteal lymph node, characterize
a hypoplasia of a segment restrictive of the lymphatic
system. Lesions of the lymphatic vessels, seen as ab-
sence of the superficial channels or presence of thin
channels, also characterize a hypoplasia. In some cases,
a uniquely enlarged lymph vessel was observed; this
change, also observed in lymphangiographies per-
formed in the affected animals,’ was probably due to
increased pressure of the lymph fluid as a consequence
of lymphatic hypoplasia. Aplasia and hypoplasia of the
lymphatic vessels have been observed in dogs and hu-
mans with hereditary lymphedema.2,5,7,8,10,12 Also, more
numerous and enlarged lymph vessels have been ob-
served in these species; such changes were interpreted
as hyperplasia of lymphatic channels.5,7,10
Acknowledgements
We are grateful for the collaboration of the farmers Mr.
Roberto Martins and Mr. Mario Ferreira and the assistance
of Dr. A. L. Parodi from Ecole Nationale Vétérinaire d’Al-
fort, France, in the histologic studies of the lymphatic system.
We also thank Dr. Severo Salles de Barros from Santa Maria
University for the preparation of the photomicrographs. This
work was supported by the CPATB/EMBRAPA-UFPel
agreement, and by Conselho National de Desenvolvimento
e Tecnológico (CNPq).
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phoedema in three dogs. J Am Vet Med Assoc 174: 1316-1320.
3. Donald HP, Deas DW, Wilson AL: 1952, Genetical analysis
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Genet 2:93-98.
5. Kinmonth SB: 1965, Lymphoedema of the lower limb. Proc
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6. Ladds PW, Dennis SM, Leipold HW: 1971, Lethal congenital
edema in bulldog pups. J Am Vet Med Assoc 159:81-86.
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hindlimb in the dog. J Am Vet Med Assoc 175:369-374.
8. Luginbiihl H, Chacko SK, Patterson DF, Medway W: 1967,
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logical studies. J Med Genet 4: 153-165.
9. Morris B, Blood DC, Sidman WR, et al.: 1954, Congenital
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10. Olszewski W, Machowski Z, Sokolowski J, et al.: 1972, Primary
lymphedema of lower extremities. I. Lymphangiographic and
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primary lymphedema. Pol Med J 11: 1564-1572.
11. Patterson DF, Medway W, Luginbiihl H, Chacko S: 1967,
Congenital hereditary lymphoedema in the dog. Part I. Clinical
and genetic studies. J Med Genet 4: 145-152.
12. Singh SD, Yesikar SS, Aziz S, Munjal S: 1966, Congenital
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... Linfedema primário hereditário é uma condição pouco freqüente, mas tem sido descrita em pessoas (Esterly 1965, Kinmonth 1965, Singh et al. 1966, Olszewski et al. 1972) bovinos das raças Ayrshire (Donald et al. 1952, Morris et al. 1954, Hereford (Schild et al. 1982, Carapeto 1984, Schild et al. 1991,1996 e Wagyu (Yamaguchi et al. 1995), cães , Davies et al.1979, Leighton & Suter 1979, Carmichael et al. 1986) e suínos (van der Putte et al. 1978, Maxie & Robinson 2007. Em bovinos Ayrshire (Donald et al. 1952, Morris et al. 1954), a forma de hereditariedade foi definida como autossômica recessiva e duas formas de manifestação clínica são descritas, uma forma generalizada afetando todo o corpo e uma forma mais branda que afeta cabeça, pescoço, membros e cauda (Donald et al. 1952). ...
... Em bovinos Ayrshire (Donald et al. 1952, Morris et al. 1954), a forma de hereditariedade foi definida como autossômica recessiva e duas formas de manifestação clínica são descritas, uma forma generalizada afetando todo o corpo e uma forma mais branda que afeta cabeça, pescoço, membros e cauda (Donald et al. 1952). Em bovinos Hereford a forma de hereditariedade foi definida como autossômica dominante (Schild et al. 1991). No relato do linfedema primário congênito em terneiro Wagyu (Yamaguchi et al.1995), a lesão estava associada a displasia e aplasia de linfonodos, mas não é informado o tipo de hereditariedade. ...
... Linfedema primário é uma síndrome caracterizada pela formação de edema que ocorre devido a defeitos dos vasos linfáticos ou linfonodos (Kinmonth 1965, Davies et al. 1979. Essas alterações foram encontradas nos terneiros deste estudo e uma causa hereditária é aparente como tem sido os casos de linfedema primário descritos em pessoas (Esterly 1965, Kinmonth 1965, Singh et al. 1966, Olszewski et al. 1972 bovinos (Donald et al. 1952, Morris et al. 1954, Schild et al. 1982, Carapeto 1984, Schild et al. 1991,1996, cães , Davies et al.1979, Leighton & Suter 1979, Carmichael et al. 1986 (Donald et al. 1952, Morris et al. 1954, uma vez que ao redor de 600 vacas são inseminadas com o sêmen do touro portador do gene causador da doença. É interessante notar que o sêmen do Touro 1, sendo comercialmente muito procurado, deve ter sido usado em várias outras propriedades sem que houvessem queixas de casos de linfedema. ...
Primary congenital lymphedema in Red Angus cattle
Article
Full-text available
  • Sep 2009
  • PESQUISA VET BRASIL
Cases of congenital lymphedema were observed affecting 12 cross Red Angus calves from the central region of the state of Rio Grande do Sul, Brazil. Affected calves presented variable degrees of subcutaneous edema at birth, involving mainly the hind limbs but also other body regions. The injection of methylene blue dye in 5% solution into the interdigital space of the hind limbs of three affected calves and one normal control indicated an interruption of the lymph flow in the affected calves; this suggests a failure of the distal peripheral lymphatics to connect with the central trunks. At necropsy of three affected calves subcutaneous edema was variably observed in the hind limbs, prepuce and ventral abdomen. Edema of body cavities was not observed. In two cases there was hipoplasia of the popliteal lymph nodes associated to dilatation of lymphatic vessels. DNA tests demonstrated that all affected calves were born from cows sired by the same bull suggesting an inherited basis for the disease. Considering the small percentage of affected calves born from cows sired by the suspect bull it is probable that an autosomal recessive mode of inheritance is involved.
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... Dados não publicados). Os demais defeitos de origem hereditária foram diagnosticados em duas oportunidades tendo sido descritos previamente: hipoplasia linfática em bovinos Hereford (Caso 43) (Schild et al. 1991); e hipermetria hereditária em bovinos Shorthorn (Caso 36) (Schild et al. 1993). Degeneração cerebelar cortical (Caso 26), também descrita anteriormente, foi atribuída a fatores ambientais ou interação genético-ambiental (Schild et al. 2001a). ...
... Hipoplasia linfática hereditária foi descrita em bovinos Hereford causada por um gene dominante de penetrância incompleta e expressividade variável (Schild et al. 1991). Esta mesma doença foi descrita na raça Angus na região central do Estado causada aparentemente por um gene recessivo autossômico (Macêdo et al. 2009). ...
... Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas entre 1978 e 2009Os casos correspondem a defeitos congênitos individuais ou a surtos observados em uma mesma propriedade, 2 Ni = não informa do, 3 SNC = Sistema Nervoso Central, 4 Es-esporádico, 5 He-hereditário, 6 Am = ambiental, 7 DLM = desvio lateral da mandíbula, 8 HeP = hereditário provável,9 Schild et al. (2001a),10 Schild et al. (1993), 11Riet-correa et al. (1993),12 Schild et al. (2001b),13 Schild et al. (1991). Em dois casos (47 e 48) não havia descrição no protocolo de necropsia do defeito observado no sistema esquelético não sendo possível realizar a classificação da malformação. ...
Congenital defects in ruminants in southern Brazil
Article
Full-text available
  • Oct 2010
  • PESQUISA VET BRASIL
Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88%, 0.36%, and 7.54%, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83% of the congenital defects, known hereditary and probably hereditary diseases represented 6.25%, and 29.16%, respectively, and defects associated to environmental factors represented 16.66%. In cattle, of the 48 congenital defects observed 21 (43.75%) affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect), nine (18.75%) affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria), nine (18.75%) the muscular system (arthrogryposis), three (6.25%) the cardiovascular system (patent ductus arteriosus and unclassified malformation), one (2.08%) the lymphatic system (hereditary lymphatic hypoplasia), one (2.08%) the alimentary system (atresia ani), and one (2.08%) the eye (congenital blindness). In five cases (10.41%) different systems were affected (diprosopus). Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia) or diseases suspected of being hereditary (chondrodysplasia) were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency) or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration). In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia). In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses) or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia). It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.
View
... Dados não publicados). Os demais defeitos de origem hereditária foram diagnosticados em duas oportunidades tendo sido descritos previamente: hipoplasia linfática em bovinos Hereford (Caso 43) (Schild et al. 1991); e hipermetria hereditária em bovinos Shorthorn (Caso 36) (Schild et al. 1993). Degeneração cerebelar cortical (Caso 26), também descrita anteriormente, foi atribuída a fatores ambientais ou interação genético-ambiental (Schild et al. 2001a). ...
... Hipoplasia linfática hereditária foi descrita em bovinos Hereford causada por um gene dominante de penetrância incompleta e expressividade variável (Schild et al. 1991). Esta mesma doença foi descrita na raça Angus na região central do Estado causada aparentemente por um gene recessivo autossômico (Macêdo et al. 2009). ...
... Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas entre 1978 e 2009Os casos correspondem a defeitos congênitos individuais ou a surtos observados em uma mesma propriedade, 2 Ni = não informa do, 3 SNC = Sistema Nervoso Central, 4 Es-esporádico, 5 He-hereditário, 6 Am = ambiental, 7 DLM = desvio lateral da mandíbula, 8 HeP = hereditário provável,9 Schild et al. (2001a),10 Schild et al. (1993), 11Riet-correa et al. (1993),12 Schild et al. (2001b),13 Schild et al. (1991). Em dois casos (47 e 48) não havia descrição no protocolo de necropsia do defeito observado no sistema esquelético não sendo possível realizar a classificação da malformação. ...
Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul1
Article
Full-text available
  • Oct 2010
  • PESQUISA VET BRASIL
2010. [Congenital defects in ruminants in southern Brazil.] Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul. Pesquisa Veterinária Brasileira 30(10):816-826. Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88%, 0.36%, and 7.54%, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83% of the congenital defects, known hereditary and probably hereditary diseases represented 6.25%, and 29.16%, respectively, and defects associated to environmental factors represented 16.66%. In cattle, of the 48 congenital defects observed 21 (43.75%) affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect), nine (18.75%) affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria), nine (18.75%) the muscular system (arthrogryposis), three (6.25%) the cardiovascular system (patent ductus arteriosus and unclassified malformation), one (2.08%) the lymphatic system (hereditary lymphatic hypoplasia), one (2.08%) the alimentary system (atresia ani), and one (2.08%) the eye (congenital blindness). In five cases (10.41%) different systems were affected (diprosopus). Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia) or diseases suspected of being hereditary (chondrodysplasia) were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency) or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration). In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia). In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses) or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia). It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could 1 Recebido em 22 de abril de 2010. Aceito para publicação em 19 de maio de 2010. Parte da Tese de Mestrado do primeiro autor, Programa de Pós-Graduação em Veterinária, Faculdade de Veterinária, Uni-versidade Federal de Pelotas (UFPel), Campus Universitário s/n, Pelotas, RS 96010-900, Brasil.
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... Few publications describe PLE in dogs, cats, cattle, and pigs, and most of them use clinical, necropsy, or radiographic findings, with or without the use of contrast medium to establish the diagnosis [1,[4][5][6][7][8][9][10][11][12][13][14]. In dogs with PLE, the disease begins in the first days to months of life, and the most common clinical presentation is unilateral or bilateral pitting edema of the hind limbs [1,6]. ...
... Autosomal dominant inheritance of mutations in the vascular endothelial growth factor receptor (VEGFR) of lymphatic vessels and in the FOXC2 gene involved in adipocyte metabolism is described in Milory disease and Meige disease, respectively [2,3,[17][18][19][20]. In contrast to the abundant information on these human conditions, there is only a handful of reports of PLE in animals [1,[4][5][6][7][8][9][10][11][12][13][14]. None of these studies performed a genome analysis of animals with PLE, but one study found an autosomal dominant mode of inheritance in a colony of affected mix-breed dogs [6]. ...
A Case Report of Presumptive Primary Lymphedema Localized to the Face of a Dog
Article
Full-text available
  • Jun 2023
Primary lymphedema (PLE) is an uncommon diagnosis in veterinary medicine, with most of the previously described cases showing lower limb edema associated with a guarded long-term prognosis. To the authors’ knowledge, this case report describes the first case of lymphedema localized unilaterally to the facial region of one-year-old German Shorthair Pointer, in which indirect CT-lymphography, combined with histopathologic examination of the skin, resulted in a tentative diagnosis of PLE.
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Clinical Diagnosis of Lymphedema in a Japanese Black Calf by Lymphangiography
Article
  • Sep 2023
An eight-month-old, female Japanese Black calf weighing 213 kg showed bilateral hindlimb edema of unknown origin. The animal had no abnormalities in general condition and gait. As a result of a blood check, the presence of underlying diseases developing edema were not suspected. Clinical examinations and diagnostic treatments in this case eliminated systemic diseases including cardiac and nutritional disorders or regional inflammation and peripheral vascular disease as causes for the bilateral edema, but it was speculated to be due to a partial lymph flow disturbance. Lymphangiography was performed using an iodine based oily contrast medium, and the contrast medium was injected subcutaneously in the carpus and tarsus regions in both forelimbs and both hindlimbs. Sequential radiographs showed an inflow of the contrast medium into the lymphatics of both forelimbs, but not of both hindlimbs. Based on these findings, this calf was clinically diagnosed with lymphedema, and pathological examination confirmed the disease.
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Congenital and Hereditary Skin Diseases
Chapter
  • Jan 2008
HypotrichosisFollicular DysplasiaCutaneous AstheniaEpidermolysis BullosaHereditary Zinc DeficiencyIchthyosisPorphyriaMiscellaneous Diseases
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Radiological study of hereditary lymphedema in Hereford cattle
Article
  • Jan 1996
  • PESQUISA VET BRASIL
A radiological study of the fore and hind limb lymphatic system was performed in seven calves with hereditary hypoplasia. Four healthy calves from an unrelated Hereford herd were used as a control group. Sixteen calves, without signs of disease, from an experimental affected herd were also studied to detect subclinical cases of lymphedema. After sedation and local anaesthesia a triangular flap of skin was reflected over the lateral aspect of the metacarpus and metatarsus to expose the subcutaneous lymphatics, which were previously stained by methylene blue injected subcutaneously into the interdigital space. The contrast medium was injected into the stained lymph vessels and lymphographies were taken in the anatomical regions where the popliteal and prescapular lymph nodes are located. The lymphangiograms obtained were used to determine the caliber of lymph vessels and the cranio-caudal and proximo-distal dimensions of the popliteal lymph nodes. It was demonstrated that direct lymphography is a suitable method to study the peripheral lymphatic system in the hind limbs of cattle with hereditary lymphatic hypoplasia. The lesions were hypoplasia and/or aplasia of the peripheral lymphatic system, characterized by decreased number and enlargement or absence of peripheral lymph vessels and decreased size or absence of popliteal lymph nodes. In calves without clinical signs the peripheral lymphatic lesions which would allow to detect subclinical cases were not observed.
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Jubb, kennedy and palmer's pathology of domestic animals: Fifth edition
Article
  • Jan 2008
It was an honor to be asked by Drs. Jubb, Kennedy, and Palmer to assume the editorship of Pathology of Domestic Animals. I studied from the first edition in Saskatoon as a DVM student, used the second edition as a working pathologist, and encouraged production of, and contributed to, the third and fourth editions. I'm delighted to have been able to be part of this continuum. In this age of instantaneous global communication and virtually universal access to databases through powerful search engines, does the need continue for such print versions of textbooks? I firmly believe that printed books continue to serve a useful function, partly through their portability and ease of use, but primarily through provision of a measured overview of important topics, with the relevance of competing topics put into perspective by authorities in the field. In particular, this latest edition of these volumes is offered as a comprehensive, and we hope beneficial, overview of the diseases of the major domestic mammals.
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Jubb, Kennedy & Palmer's Pathology of Domestic Animals
Article
  • Jan 2007
The 5th edition of Jubb, Kennedy, and Palmer's Pathology of Domestic Animals continues the long tradition of this classic set of volumes as the most comprehensive reference book published on the topic of pathology of the common domestic mammals, with emphasis on disease conditions of cattle and small ruminants, swine, horses, dogs and cats. Using a body systems approach, recognized authorities in their fields provide overviews of general characteristics of the system, reactions to insult, and disease conditions broken down by type of infectious or toxic insult affecting the anatomical subdivisions of each body system. Since the publication of the 4th edition in 1993, much has changed. Disease agents, such as Bovine viral diarrhea virus (BVDV) type 2, Porcine reproductive and respiratory syndrome virus (PRRSV), Porcine circovirus 2, Hendra virus, and Leptospira spp., have emerged or further evolved. Molecular-based testing, including polymerase chain reaction (PCR) and in-situ hybridization, have allowed further understanding of pathogenesis of disease, and have greatly furthered our diagnostic capabilities. Thoroughly revised text, including new or evolving pathogens and new diagnostic techniques. Over 250 new illustrations. Maintains the currency of the text, assists the reader in putting new conditions into perspective. Updating of the Bibliography on each subject gives readers new entry points into the rapidly expanding literature on each subject. Illustrations of new conditions or agents. Reader-friendliness improved through highlighting of text, bullet-point lists, italics, diagnostic hints.
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Primary lymphedema of the hindlimb in the dog
Article
  • Sep 1979
  • JAVMA-J AM VET MED A
Congenital lymphedema was diagnosed clinically and confirmed radiographically in five dogs. In all dogs, hindlimbs were affected with painless pitting edema at birth or shortly thereafter. The absence of popliteal lymph nodes and lymphatic hyperplasia or lymphatic hypoplasia were detected by lymphangiography or necropsy (or both). Improvement was obtained by long-term bandaging in Robert Jones splints in one dog and by surgical excision of the affected superficial fascia and subcutaneous tissue in two dogs. The remaining two dogs were euthanatized after lymphangiographic studies and were necropsied to confirm the diagnosis.
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Congenital lymphoedema - Report of a case with brief review of the literature
Article
  • Mar 1966
A case of congenital lymphoedema with ptosis and tongue-tie has been described and a brief review of literature given.
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