Happiness is a warm puppy. Charles Schulz Happiness is a warm Beardie puppy. Maryann Szalka.
Perosomus Elumbis in a Puppy
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SPONTANEOUSLY ARISING DISEASE Perosomus Elumbis in a Puppy C. B. Amaral * , M. A. P. Rom~ ao † and A. M. R. Ferreira † *Departamento de Medicina Veterin aria, Faculdade de Medicina Veterin aria, Universidade Federal do Esp ırito Santo, 29500-000 Alegre, ES and † Departamento de Cl ınica e Patologia Veterin aria, Faculdade de Veterin aria, Universidade Federal Fluminense, 24230-360 Niter oi, RJ, Brazil Summary A 2-day-old poodle puppy was seen to have hypoplastic and arthrogrypotic hindlimbs and no tail. Palpation revealed an absence of lumbar and sacral vertebrae. At necropsy examination, the colon had a blind ending at the umbilical area, there were no urinary system organs, the spinal cord ended at the thoracic level and no gen- ital system organs were found except for a structure similar to a rudimentary penis. The pelvis was abnormal with no articulation with the spine. This congenital anomaly was consistent with perosomus elumbis, a rare condition of unknown aetiology with few reported cases. Ó 2012 Elsevier Ltd. All rights reserved. Keywords: congenital anomaly; dog; perosomus elumbis Perosomus elumbis is a congenital anomaly charac- terized primarily by agenesis of the lumbosacral ver- tebrae and of the spinal cord, the latter ending at the thoracic level in a blind-ended canal. Hindlimb hypoplasia and arthrogryposis, characterized by an- kylotic joints and muscular atrophy due to lack of in- nervation, is also a feature. Visceral abnormalities may also be present, such as atresia ani, cryptorchi- dism, unilateral renal agenesis, renal cysts, intestinal anomalies, urogenital tract defects, reduced numbers of ribs and diaphragmatic and perineal hernias (Dennis, 1975; Noden and de Lahunta, 1990; Bezek et al., 1994; Jones, 1999; Castro et al., 2003; Avedillo and Cam on, 2007; Lee et al., 2007; Son et al., 2008; Gerhauser et al., 2010). The condition has been reported in man (Harlow et al., 1995; Bohring et al., 1999), cattle (Noden and de Lahunta, 1990; Bezek et al., 1994; Jones, 1999; Castro et al., 2003; Lee et al., 2007; Son et al., 2008), pigs (Avedillo and Cam on, 2007), sheep (Dennis, 1975), a horse (Gerhauser et al., 2010) and dogs (Jubb and Huxtable, 1993). A 2-day-old poodle puppy was presented at a pri- vate clinic with hindlimb deformity and paralysis. It was one of a litter of two puppies and the other pup was normal (Fig. 1). On external inspection, the hin- dlimbs appeared fused medially with angular defor- mities, rigid joints, muscular atrophy and no movement. The puppy had no tail. On palpation, a firm nodule was felt at the thoracolumbar level of the vertebral column, but there were no palpable ver- tebra caudal to that point, the soft tissues presumably being the only linkage of the hindquarters to the rest of the body. Caudal to the umbilicus was a structure similar to a penis with a closed end. There was no anal orifice. There were no apparent abnormalities in the forelimbs, cervical vertebrae or head. Due to the poor prognosis the animal was humanely de- stroyed. At necropsy examination, the stomach, liver, gall- bladder, pancreas, spleen, small intestines and cae- cum showed no abnormalities. The large intestine was shorter than expected, moderately distended by gas and had a blind end at the umbilical site (Fig. 2). No urinary system was present and there were no adrenal glands. There was no anal orifice. The abdominal wall was composed of a thin layer of soft tissue without any osseous connection between the thoracic vertebrae and the hindlimbs. The thorax showed no alterations in its structures (including the diaphragm) with 13 thoracic vertebrae, the last one with a closed neural canal (Fig. 3). The structure Correspondence to: C. B. Amaral (e-mail: [email protected]). 0021-9975/$ - see front matter Ó 2012 Elsevier Ltd. All rights reserved. doi:10.1016/j.jcpa.2012.03.003 J. Comp. Path. 2012, Vol. 147, 495e498 Available online at www.sciencedirect.com www.elsevier.com/locate/jcpa
Transcript of Perosomus Elumbis in a Puppy
J. Comp. Path. 2012, Vol. 147, 495e498 Available online at www.sciencedirect.com
www.elsevier.com/locate/jcpa
SPONTANEOUSLY ARISING DISEASE
Perosomus Elumbis in a Puppy
Cor
002
doi
C. B. Amaral*, M. A. P. Rom~ao† and A. M. R. Ferreira†
*Departamento de Medicina Veterin�aria, Faculdade de Medicina Veterin�aria, Universidade Federal do Esp�ırito Santo,29500-000 Alegre, ES and †Departamento de Cl�ınica e Patologia Veterin�aria, Faculdade de Veterin�aria, Universidade Federal
Fluminense, 24230-360 Niter�oi, RJ, Brazil
resp
1-99
:10.1
Summary
A 2-day-old poodle puppy was seen to have hypoplastic and arthrogrypotic hindlimbs and no tail. Palpationrevealed an absence of lumbar and sacral vertebrae. At necropsy examination, the colon had a blind ending atthe umbilical area, there were no urinary system organs, the spinal cord ended at the thoracic level and no gen-ital system organs were found except for a structure similar to a rudimentary penis. The pelvis was abnormalwith no articulation with the spine. This congenital anomaly was consistent with perosomus elumbis, a rarecondition of unknown aetiology with few reported cases.
� 2012 Elsevier Ltd. All rights reserved.
Keywords: congenital anomaly; dog; perosomus elumbis
Perosomus elumbis is a congenital anomaly charac-terized primarily by agenesis of the lumbosacral ver-tebrae and of the spinal cord, the latter ending atthe thoracic level in a blind-ended canal. Hindlimbhypoplasia and arthrogryposis, characterized by an-kylotic joints and muscular atrophy due to lack of in-nervation, is also a feature. Visceral abnormalitiesmay also be present, such as atresia ani, cryptorchi-dism, unilateral renal agenesis, renal cysts, intestinalanomalies, urogenital tract defects, reduced numbersof ribs and diaphragmatic and perineal hernias(Dennis, 1975; Noden and de Lahunta, 1990; Bezeket al., 1994; Jones, 1999; Castro et al., 2003; Avedilloand Cam�on, 2007; Lee et al., 2007; Son et al., 2008;Gerhauser et al., 2010). The condition has beenreported in man (Harlow et al., 1995; Bohring et al.,1999), cattle (Noden and de Lahunta, 1990; Bezeket al., 1994; Jones, 1999; Castro et al., 2003; Leeet al., 2007; Son et al., 2008), pigs (Avedillo andCam�on, 2007), sheep (Dennis, 1975), a horse(Gerhauser et al., 2010) and dogs (Jubb andHuxtable, 1993).
A 2-day-old poodle puppy was presented at a pri-vate clinic with hindlimb deformity and paralysis. Itwas one of a litter of two puppies and the other pup
ondence to: C. B. Amaral (e-mail: [email protected]).
75/$ - see front matter
016/j.jcpa.2012.03.003
was normal (Fig. 1). On external inspection, the hin-dlimbs appeared fused medially with angular defor-mities, rigid joints, muscular atrophy and nomovement. The puppy had no tail. On palpation,a firm nodule was felt at the thoracolumbar level ofthe vertebral column, but there were no palpable ver-tebra caudal to that point, the soft tissues presumablybeing the only linkage of the hindquarters to the restof the body. Caudal to the umbilicus was a structuresimilar to a penis with a closed end. There was noanal orifice. There were no apparent abnormalitiesin the forelimbs, cervical vertebrae or head. Due tothe poor prognosis the animal was humanely de-stroyed.
At necropsy examination, the stomach, liver, gall-bladder, pancreas, spleen, small intestines and cae-cum showed no abnormalities. The large intestinewas shorter than expected, moderately distended bygas and had a blind end at the umbilical site(Fig. 2). No urinary system was present and therewere no adrenal glands. There was no anal orifice.The abdominal wall was composed of a thin layer ofsoft tissue without any osseous connection betweenthe thoracic vertebrae and the hindlimbs. The thoraxshowed no alterations in its structures (including thediaphragm) with 13 thoracic vertebrae, the last onewith a closed neural canal (Fig. 3). The structure
� 2012 Elsevier Ltd. All rights reserved.
Fig. 3. The 13th thoracic vertebrawith a closed bony ending of thespinal canal (arrow). Dorsal view. Bar, 1 cm.
Fig. 1. Two 2-day-old poodle littermates. One animal is morpho-logically normal (black, above) and the other has hindlimbdeformity, no tail and a firm nodule at the level of the thor-acolumbar vertebrae (*) (white, below). Bar, 2 cm.
496 C.B. Amaral et al.
similar to a penis was composed of soft tissues and waslinked to a rudimentary bone structure resemblingthe pelvis at the base of the hindlimbs (Fig. 4). Noother genital structure was identified. On dissection,it was observed that the hindlimb bones were fusedmedially until the level of the tarsus. The metatarsaland other distal bones were connected by soft tissues.
These malformations were consistent with peroso-mus elumbis. This anomaly has been known in hu-man teratology since the 18th century (Jones, 1999;Castro et al., 2003; Son et al., 2008). The condition israre in all species in which it has been reported
Fig. 2. The large intestine is shorter than expected,moderately dis-tended by gas and has a blind ending at the umbilical site(*). Note the small caecum (C). Bar, 1 cm.
(Bezek et al., 1994; Castro et al., 2003; Lee et al.,2007; Son et al., 2008; Gerhauser et al., 2010) andrepresents <1% of the congenital anomalies incattle (Jones, 1999; Castro et al., 2003). Theaetiopathogenesis of the condition is unknown, butit might be related to malformation or improper
Fig. 4. A structure similar to a penis (arrow) linked to a rudimen-tary bone structure at the base of the hindlimbs resemblingthe pelvis (*). Note severe arthrogryposis of the limbs withfused and fixed bones. Bar, 1 cm.
Perosomus Elumbis in a Puppy 497
migration of the neural tube during the budding stageof the tail, accompanied by partial agenesis of thespinal cord (Jones, 1999; Castro et al., 2003; Sonet al., 2008; Gerhauser et al., 2010). It is believedthat the condition may be caused by chromosomalmutation in the homeobox genes (Castro et al.,2003; Avedillo and Cam�on, 2007; Lee et al., 2007;Gerhauser et al., 2010). Mutations that lead to theabnormal expression of the products of these genesand/or alterations in their regulators (e.g.endogenous retinoic acid) are implicated in sacralagenesis in man and it is logical to presume theymight also be involved in perosomus elumbis(Avedillo and Cam�on, 2007). Perosomus elumbis dif-fers from spina bifida, as in the latter the structures de-velop with abnormal shape, but are not absent (Leeet al., 2007).
In cattle, the calf is usually stillborn (Jones, 1999;Lee et al., 2007) with one report of a newbornKorean calf (Lee et al., 2007) and one of a Holsteincalf (Son et al., 2008). An affected thoroughbred foalwas aborted (Gerhauser et al., 2010). Perosomuselumbis can affect only one animal of a litter, as de-scribed in piglets (Jones, 1999; Castro et al., 2003;Avedillo and Cam�on, 2007). The littermate of thepuppy reported here was normal.
Although the condition has no gender bias, malesheep are affected more often than females and thepuppy reported here was male based on the presenceof a rudimentary penis. Affected male sheep also havea rudimentary penis, but histological or karyotypeanalyses were not performed in order to confirm thegender of this pup. Altered pelvic bone structure iscommon in affected cattle, pigs and sheep, with thepubic bone sometimes being absent (Dennis, 1975;Bezek et al., 1994; Castro et al., 2003; Avedillo andCam�on, 2007; Gerhauser et al., 2010). The absenceof lumbosacral support leads to sagittal collapse andfusion of the iliac wings causes pelvic narrowing(Lee et al., 2007; Son et al., 2008).
Abnormalities of the cranial body are rarer, buthave been described in sheep and a foal. These in-cluded synophthalmia, cerebral aplasia, cerebellarhypoplasia and hydrocephalus (Dennis, 1975;Gerhauser et al., 2010). As opposed to reported casesin cattle, the viscera of affected sheep are not alwaysin normal topographical and structural presentation(Dennis, 1975). Therefore, canine perosomus elumbisappears to be more similar to cases reported in sheepthan in cattle. In sheep, visceral abnormalities aremore frequent and urogenital agenesis occursmore of-ten than in cattle with perosomus elumbis (Dennis,1975). In a female calf, the presence of normal uterinehorns and ovaries, a blind-ending and reduced uter-ine body fused caudally to the urinary bladder and
fused cranially to the distal colon was described(Jones, 1999). Similar findings were observed in anaborted female foal (Gerhauser et al., 2010). In onecase in a piglet (Avedillo and Cam�on, 2007), the righttestis was located in the scrotum while the left was inthe abdominal cavity. Based on these observations,one can speculate that urogenital tract alterationsmay be more accentuated in females due to the prox-imity of the organs to the pelvic floor, leading to fu-sion. In males, as the testes are located in thescrotum, the major abnormality is cryptorchidism.
None of the cases of perosomus elumbis reportedpreviously had bilateral renal agenesis. In most in-stances a unilateral horseshoe-shaped kidney waspresent (Jones, 1999; Castro et al., 2003; Avedilloand Cam�on, 2007; Son et al., 2008). Renalcysts have also been reported (Dennis, 1975;Avedillo and Cam�on, 2007; Gerhauser et al., 2010).Arthrogrypotic limbs are common in animals withany kind of lumbar agenesis (Dennis, 1975; Jones,1999; Castro et al., 2003; Avedillo and Cam�on,2007; Son et al., 2008; Gerhauser et al., 2010), but insome cases of perosomus elumbis with developedand innerved lumbar vertebrae, arthrogryposis maynot be evident and only atresia ani is found (Leeet al., 2007). Due to the complexity of the observed al-terations, some authors have described the anomalyas a complex association of multisystemic malforma-tions (Avedillo and Cam�on, 2007).
Acknowledgments
The authors thank M. V. M. Magheli and E. Limafor their assistance during the necropsy examinationand Dr. M. V. T. Rodrigues for reviewing the article.
References
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