Dyserythropoiesis, Polymyopathy, and Cardiac Disease in Three Related English Springer Spaniels

A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly. The prevalence, etiology, underlying pathomechanism, and possible mode of inheritance remain to be elucidated.     

Inherited phosphofructokinase deficiency in an American cocker spaniel.

A 3-year-old female American Cocker Spaniel with a chronic hemolytic disorder and hemolytic crises was found to have M-type phosphofructokinase deficiency. This inherited erythroenzymopathy and myopathy is commonly diagnosed in English Springer Spaniels, but the family study of this Cocker Spaniel, although supporting an autosomal recessive mode of inheritance, did not reveal any English Springer Spaniel ancestors. Molecular genetic studies did, however, identify the same mutation in this dog as we previously reported in the English Springer Spaniel breed, suggesting that this mutation originated prior to the separation of these 2 breeds.     

Neutrophil function in dogs with congenital ciliary dyskinesia.

In vitro neutrophil function was assessed in two English Springer Spaniel dogs, two Bichon Frise dogs, and one Chow Chow dog with congenital ciliary dyskinesia; three clinically normal English Springer Spaniel dogs that were presumed heterozygous for congenital ciliary dyskinesia; and five control dogs. Chemotaxis and random migration in affected and heterozygous dogs were found to be comparable to those of control dogs. Increased (P less than or equal to 0.05) neutrophil adhesion, antibody dependent cell-mediated cytotoxicity, iodination of proteins, and oxygen radical production in neutrophils from affected dogs were probably the result of chronic bacterial infection in vivo. Bacterial ingestion by neutrophils from the three heterozygous English Springer Spaniel dogs was significantly increased compared to control dogs but was not different from affected English Springer Spaniel dogs, suggesting a breed-related phenomenon. Significant decreases in neutrophil function were not seen in any of the dogs with congenital ciliary dyskinesia, indicating that a defective microtubular system is not shared by respiratory cilia and neutrophils and that defective neutrophil function does not contribute to respiratory infection.     

National survey of owner-directed aggression in English Springer Spaniels

OBJECTIVE: To determine prevalence of owner-directed aggression and identify associated environmental and genetic factors in English Springer Spaniels. DESIGN: Prevalence survey. ANIMALS: 1,053 adult English Springer Spaniels. PROCEDURE: A mail survey was sent to 2,400 randomly selected owners of adult American Kennel Club-registered English Springer Spaniels. Dogs with a history of aggression to family members and familiar humans were compared with dogs without such a history. RESULTS: 1,053 questionnaires (56.1% of the 1,877 delivered) were completed. A history of owner-directed growling or more intense aggression was reported in 510 (48.4%) dogs. Two hundred seventy-seven (26.3%) dogs had bitten a human in the past; 65.2% of bites were directed at familiar (owner or nonowner) adults and children. Variables associated with owner-directed aggression included sex of dog (male), neuter status (neutered, regardless of sex), show or bench lines, age > 4 years, aggression to unfamiliar adults and children, acquisition from a hobby breeder, less responsiveness to obedience cues, and a specific kennel and 1 popular sire from that kennel in a 4-generation pedigree. CONCLUSIONS AND CLINICAL RELEVANCE: Owner-directed aggression in adult English Springer Spaniels was associated with a number of environmental, sex-related, and inherited factors. To reduce the risk of aggression, prospective owners might seek a female, hunting-type English Springer Spaniel from an experienced breeder. However, because risk factors are broad and varied, there are limitations to the extent to which behavior can be predicted and further study is needed of the inheritance of aggression in this breed.     

Genomic screening for fucosidosis in English Springer Spaniels.

OBJECTIVE: To develop a robust molecular genetic test for alpha-L-fucosidosis in English Springer Spaniels and to screen dogs from the United Kingdom and United States for the mutant allele. ANIMALS: 35 English-bred English Springer Spaniels, 60 American-bred English Springer Spaniels, and 1 affected dog and its parents from a family of English Springer Spaniels in Colorado. PROCEDURE: Polymerase chain reaction analysis was used to amplify the mutated region in the gene encoding alpha-L-fucosidase. High guanine-cytosine (GC) content of the region required use of an amplification buffer with high pH. Mutant and normal alleles were separated by polyacrylamide gel electrophoresis. Molecular genetic test results were compared with enzyme data. RESULTS: A 262-bp PCR product was amplified from normal dogs and compared with a 248-bp product from affected dogs. Carriers had 1 copy of each allele, distinguishable by the 14-bp size difference. Two carriers among the English-bred dogs were identified by use of enzyme and genomic DNA analyses. The molecular defect in dogs from Colorado was proven to be the same as that in British and Australian dogs. None of the other 60 American-bred dogs carried the mutant allele. CONCLUSIONS AND CLINICAL RELEVANCE:A PCR method that can be used to identify dogs affected with or carriers of the autosomal recessive disease fucosidosis was established. Amplification was achieved within a GC-rich region, using a method that may be useful in overcoming amplification problems in GC-rich areas within other genes. Using this test, fucosidosis can be controlled and ultimately eradicated from the English Springer Spaniel population.     

Pectinate ligament dysplasia and narrowing of the iridocorneal angle associated with glaucoma in the English Springer Spaniel

Objective The aim of the study was to evaluate if tonometry and gonioscopy could serve as predictors of later glaucoma development in the English Springer Spaniel, a breed prone to developing primary glaucoma. Animals studied Gonioscopy was performed on 279 English Springer Spaniel dogs, 119 males and 160 females, with clinically normal eyes. In addition, 14 dogs, five males and nine females were examined for glaucoma. Results A positive relation between pectinate ligament dysplasia (PLD) and narrowing of the relative width of the ciliary cleft (RWOCC) and also between PLD, RWOCC and age was demonstrated. The prevalence of PLD was 25.5%, which is higher than in other breeds reported. A positive association was demonstrated between PLD and glaucoma, as well as between narrowing of the RWOCC and glaucoma. Glaucoma was not observed in dogs with normal appearance of the iridocorneal angle. English Springer Spaniels related to dogs with glaucoma show more narrowing of the RWOCC and more PLD than unrelated dogs. Conclusion This study demonstrates the positive association between PLD and glaucoma, between narrowing of the iridocorneal angle and glaucoma and the effect of age on the iridocorneal angle. Mating of dogs with normal iridocorneal angles appears to reduce the presence and degree of abnormal appearance of the iridocorneal angle in the offspring. However, breeding only dogs with normal iridocorneal angles without consideration of their relationship to dogs with glaucoma is not a guarantee for preventing glaucoma in the offspring.     

Retinal dysplasia in dogs--a review

Retinal dysplasia is a developmental aberration of the neuroretina characterized by formation of retinal tubules, malformation rosettes and folding of the retina. Retinal dysplasia has been reported in Bedlington Terrier, Sealyham Terrier, Beagle, Labrador Retriever, English Cocker Spaniel, American Cocker Spaniel, English Springer Spaniel, Yorkshire Terrier and Rottweiler. A hereditary basis for retinal dysplasia has been proved or suggested for all breeds exhibiting retinal dysplasia except Beagle and Rottweiler. Ophthalmoscopically retinal dysplasia is characterized by vermiform streaks often radiating from the optic disc. The reflectivity of the tapetum is often altered in these areas. Accompanying retinal detachment or cataractous changes in the lens may be seen. Extensive retinal dysplasia and retinal detachment or cataract may result in visual impairment or blindness. Eyes exhibiting retinal dysplasia may be classified according to the number of layers from the retinal structure that are represented in the rosettes. Three-layer rosette. Two-layer rosette. Single-layer rosette. Primitive unilayer rosette. The etiology of retinal dysplasia includes viral disorders, irradiation, X-radiation, intrauterine trauma and heritable factors.     

Canine fucosidosis: clinical findings

The clinical course of canine fucosidosis, a neurovisceral lysosomal storage disease, is described from observations of 31 affected English Springer Spaniels. The diagnosis of fucosidosis was suggested by the development of multifocal neurological signs in the second year of life and confirmed by a deficiency of alpha-L-fucosidase activity in plasma and leucocytes. The progressive motor and mental deterioration was similar in all dogs and no affected animal survived to four years of age. Alpha-L-fucosidase activity in plasma was <0·05 μ/1 in all cases. The activity in leucocytes and other tissues was < 5 per cent of that of normal dogs. Vacuolated leucocytes occurred in cerebrospinal fluid, blood and bone marrow. The enlargement of peripheral nerves which is observed at autopsy could be detected by palpation of the ulnar nerve in advanced disease, however the results of electrodiagnostic studies were within normal limits. The clinical signs and pathological changes were found to be remarkably consistent from case to case making it an excellent model for investigating therapeutic strategies in human lysosomal storage disorders.     

Platelet vacuoles in a dog with severe nonregenerative anemia: evidence of platelet autophagy

A 13‐year‐old neutered male English Springer Spaniel was presented to The Ohio State University Veterinary Medical Center for evaluation of severe anemia. Upon blood smear review, approximately 50% of the platelets contained single to multiple variably sized clear vacuoles. Transmission electron microscopy of the platelets revealed hallmark features of autophagy, including membrane‐lined vesicles and vacuoles containing membrane whorls and degrading organelles. While autophagy has been demonstrated in a wide range of eukaryotic cells for decades, reports of platelet autophagy are lacking. This case report illustrates atypical platelet vacuolation with electron microscopic features characteristic of autophagy.     

Nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency in an English Springer Spaniel

A five-year-old female English Springer Spaniel was evaluated for chronic episodic anaemia, pigmenturia and icterus. There was increased erythrocyte pyruvate kinase activity, increased in vitro erythrocyte alkaline fragility, decreased erythrocyte 2,3-diphosphoglycerate activity and severely decreased erythrocyte phosphofructokinase activity. The clinical features and haematological values were identical with erythrocyte phosphofructokinase deficiency and resulting nonspherocytic haemolytic anaemia recently described in this breed.     

Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel

A 4-month-old intact female English Springer Spaniel presented to the University of Georgia Veterinary Teaching Hospital for evaluation of unilateral, progressive exophthalmos oculus sinister (OS) of 2 weeks' duration. Complete ophthalmic examination revealed moderate OS exophthalmos and lateral globe deviation. No other abnormalities were noted on physical or ophthalmic examination, ocular ultrasound, complete bloodwork, or thoracic radiography. Skull computed tomography (CT) revealed a large, focal, smoothly irregular, cavitated, expansile bony lesion involving the left caudal maxillary and left frontal bones. Biopsies, obtained through a frontal sinusotomy approach to preserve the left globe integrity, demonstrated normal reactive trabecular bone with locally extensive fibrosis. Calvarial hyperostosis was diagnosed based upon appearance on imaging, lesion unilaterality, absence of mandibular involvement, and histopathology. Six months after initial presentation, skull CT was repeated and marked reduction in the degree of frontal bone thickening was demonstrated with complete resolution of cavitations. There was marked clinical improvement with mild, nonpainful exophthalmos, and lateral globe deviation OS on ophthalmic examination. Eleven months after initial presentation, there was complete resolution of the frontal bone lesion with mild thickening of the left calvarial bones on repeat skull CT. There was no exophthalmos or globe deviation present on clinical ophthalmic examination. The proliferative osteopathic lesion was self-resolving with resolution of the exophthalmos and has not recurred to date. To the authors' knowledge, this is the first report of calvarial hyperostosis in a previously unreported breed presenting as unilateral exophthalmos.     

Neospora caninurn Infection in English Springer Spaniel Littermates

Progressive paraparesis developed in four male English Springer Spaniel pups from a litter of five during the first 10 weeks of life. Two of the pups, which had the earliest onset of neurologic signs, were euthanatized without further workup. However, a detailed investigation was completed on the remaining two littermates at 12 weeks of age. Both pups had progressive paraparesis for 3 to 4 weeks before presentation, with one dog developing subsequent asymmetric pelvic limb extensor rigidity. Based on results from neurologic examination, cerebrospinal fluid (CSF) analysis, electrophysiology, and muscle/nerve biopsy, a presumptive diagnosis of protozoal polyradiculitis and polymyositis was made. Necropsy of the most severely affected pup confirmed the clinical diagnosis of inflammatory nerve root and muscle disease but no organisms were found. To increase the potential yield of organisms, the second pup was placed on immunosuppressive doses of corticosteroids and euthanatized 2 weeks later. Numerous organisms were found in lesions in muscle and the central nervous system. Organisms grew in tissue culture and were isolated from the peritoneal fluid of gerbils inoculated with infected tissue. Organisms were not isolated from inoculated mice, guinea pigs, rabbits, and hamsters. No parasites were seen in feces or tissues of three cats fed infected dog tissues. Serologic testing demonstrated a strong positive titer to Neospora caninum in both pups, and electron microscopy showed the characteristic morphology of this parasite.     

Septic pericarditis and myocardial abscess in an English Springer spaniel

Septic pericarditis and myocardial abscess are rare conditions in dogs. They are usually caused by foreign bodies, penetrating wounds, systemic infections or extension of local infections such as endocarditis, pleuritis or pulmonary infections to the myocardial tissue. Here we report a septic pericardial effusion and myocardial abscess in a young English Springer spaniel presenting with a long history of pyrexia and lethargy. No cause could clearly be identified although a penetrating injury or dissolving foreign body was highly suspected. The patient was successfully treated with a surgical approach in combination with broad spectrum antibacterials resulting in resolution of clinical signs without recurrence of the infection.     

Fucosidosis in an English Springer Spaniel presenting as a malabsorption syndrome

A case of alpha-fucosidosis in a 2-year-old male English Springer Spaniel presented as a malabsorption syndrome without any clinical neurological abnormalities. The dog had a history of chronic weight loss, diarrhoea, mild anaemia, hypoproteinemia and reduced jejunal absorption of D-xylose. A diagnosis of fucosidosis with intestinal malabsorption was based on these findings, markedly reduced plasma fucosidase levels and the diffuse infiltration of the lamina propria and submucosa of the stomach, small intestine, Peyer's patches and mesenteric lymph nodes by macrophages with finely vacuolated cytoplasm. Cytoplasmic vacuolation was also a feature of cells of the pancreas, thryroid, parathyroid and adenohypophysis and the epithelia lining respiratory airways and the urogenital tract. Neurons of the autonomic plexuses of the gastrointestinal tract and the urinary bladder as well as those of the brain, spinal cord, spinal ganglia and retina were also vacuolated. The profound decrease in sigma-fucosidase activity in the brain, liver and kidney was accompanied by a marked increase in 6 other lysosomal enzymes, especially beta-n-acetyl glucosaminidase.     

The diagnosis and differential diagnosis of cataract in the dog

Cataract is a common eye condition in the dog, classified in several ways and with a varied aetiology. The clinical appearance of hereditary cataract is described in the Boston Terrier, Miniature Schnauzer, Staffordshire Bull Terrier, Cavalier King Charles Spaniel, Golden Retriever, Labrador Retriever, Large Munsterlander, English Cocker Spaniel, American Cocker Spaniel, Afghan Hound, Welsh Springer Spaniel, German Shepherd Dog, Standard Poodle. Cataracts secondary to other eye diseases, both hereditary and non-hereditary, and to systemic conditions are also discussed, as well as the differential diagnosis of cataract.     

Xylitol intoxication associated with fulminant hepatic failure in a dog

Objective: To describe a case of xylitol intoxication causing fulminant hepatic failure in a dog. Case summary: A 2.5‐year‐old castrated male English Springer Spaniel weighing 26 kg, was presented after ingestion of half of a loaf of bread containing the sweetener xylitol. Toxic effects of the xylitol in this dog included vomiting, mild hypoglycemia and fulminant hepatic failure. Clinical management of acute hepatic failure and subsequent coagulopathy with supportive care and fresh frozen plasma is described. The dog was discharged 3 days after admission after a full clinical recovery. New or unique information provided: This paper describes the clinical consequence and successful treatment of fulminant hepatic failure in a dog following ingestion of xylitol.     

Exercise-induced malignant hyperthermia in an English springer spaniel

An exercise-induced malignant hyperthermia-like syndrome developed in an English Springer Spaniel. Moderate exercise resulted in pronounced hyperlactacidemia, dyspnea, and hyperthermia. Before exercise, the dog had high activities of serum muscle enzymes, mild reticulocytosis, abnormally increased erythrocyte osmotic fragility, and a positive result from the caffeine-halothane contracture test. This report supports the hypothesis of a canine stress syndrome and indicates a role for exercise/challenge tests in diagnosis of malignant hyperthermia susceptibility.     

Hemolysis,myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets

Abstract: Two male castrated Whippet littermates were presented at 1 year of age for pallor, tachycardia, systolic heart murmur, dark yellow to orange feces, intermittent lethargy, pigmenturia, and muscle shivering or cramping after exercise. Persistent macrocytic hypochromic anemia with marked reticulocytosis and metarubricytosis was found when CBC results were compared with reference values for Whippets. Increased serum creatine kinase activity and hyperkalemia also were sometimes present over the 4‐year period of evaluation. Progressively increasing serum concentrations of N‐terminal prohormone brain natriuretic peptide suggested cardiac disease. Erythrocytes from the whippets were less osmotically fragile but more alkaline fragile than those from control dogs. Erythrocyte phosphofructokinase (PFK) activities and 2,3‐diphosphoglycerate concentrations were decreased. Restriction enzyme‐based DNA test screening and DNA sequencing revealed the same mutation in the muscle‐PFK gene of the Whippets as seen in English Springer Spaniel dogs with PFK deficiency. This is the first report of PFK deficiency in Whippet dogs. In addition to causing hemolysis and exertional myopathy, heart disease may be a prominent clinical component of PFK deficiency in this breed and has not been previously recognized in PFK‐deficient English Springer Spaniels.     

Cerebellar cortical degeneration in three English bulldogs: clinical and neuropathological findings

This case report describes the clinical and neuropathological findings in three young English bulldogs affected by cerebellar cortical degeneration. The dogs, born from the same parents, were presented with clinical signs indicating progressive cerebellar dysfunction: a wide-based stance, severe cerebellar ataxia characterised by marked hypermetria, spasticity, and intention tremors of the head and trunk with loss of balance. On histopathological examination, lesions were confined to the cerebellum and consisted of diffuse degenerative cortical lesions, and there was a loss of Purkinje and granule cells. The history, clinical signs and neuropathological findings confirmed the diagnosis of cerebellar cortical degeneration. To the authors' knowledge, this is the first report of cerebellar cortical degeneration in the English bulldog.     

Giant cell tumor of the accessory carpal bone in a dog

A 4-year-old Springer Spaniel was referred because of a 6-week history of progressive left forelimb lameness. A marked pain response was elicited by palpation over the left accessory carpal bone. Radiography revealed a lytic, markedly expansile lesion of the accessory carpal bone. The bone was excised, and pancarpal arthrodesis was performed. Histologic examination of the excised bone revealed giant cell tumor. At 14 months after surgery, the dog was using the limb normally. Radiography of the carpus revealed satisfactory progression of the arthrodesis, and thoracic radiographs were negative for metastases.