Dystrophin‐deficient muscular dystrophy in two lurcher siblings

Two cases of dystrophin‐deficient muscular dystrophy in 16‐week‐old male lurcher siblings are reported. The myopathies were characterised by regurgitation, progressive weakness and muscle wastage. The dogs had generalised weakness in all four limbs, with more pronounced weakness in the pelvic limbs. Reduced withdrawal in all limbs, muscle contracture and lingual hypertrophy were noted. Serum creatine kinase activities were markedly elevated. Electromyographic abnormalities included fibrillation potentials. Histopathological and immunohistochemical staining were consistent with dystrophin‐deficient muscular dystrophy. Clinical improvement was noted in one of the cases with l ‐carnitine supplementation and supportive therapy. Genetic transmission of the disease was postulated as the dogs were siblings.     

Hypertrophic muscular dystrophy in a young dog

Hypertrophic muscular dystrophy was diagnosed in a 10-month-old male Rat Terrier with hypersalivation, dysphagia, gait abnormalities, and generalized weakness. Serum creatine kinase activity was high, and electromyography revealed myotonic discharges. Histologic examination of a muscle biopsy specimen revealed muscle fiber degeneration, clusters of basophilic regenerating fibers, and endomysial fibrosis. Staining for dystrophin, a sarcolemmal protein, was decreased, compared with that in muscle specimens from clinically normal dogs. Treatment with mexilitene hydrochloride and procainimide hydrochloride resulted in temporary improvement in clinical signs, but the disease became refractory to treatment, and the dog was euthanatized. Clinical and histologic characteristics of this dystrophin deficiency-related muscular dystrophy were similar to those of X-linked muscular dystrophy in dogs, hypertrophic muscular dystrophy in cats, and Duchenne muscular dystrophy in humans.     

POSITRON EMISSION TOMOGRAPHY FEATURES OF CANINE NECROTIZING MENINGOENCEPHALITIS

A Yorkshire terrier and a Chihuahua were referred for acute onset, generalized tonic‐clonic seizures and were suspected to have meningoencephalitis based on magnetic resonance (MR) imaging findings. Brain lesions appeared hyperintense with T2‐weighted imaging and hypointense with T1‐weighted imaging, and were characteristic of necrotizing meningoencephalitis. Both dogs were diagnosed with necrotizing meningoencephalitis based on pathologic findings. Fluorine‐18 fluorodeoxyglucose positron emission tomography (FDG‐PET) was performed on both animals before euthanasia with the permission of the owner. In FDG‐PET images, these lesions seen in MR images were characterized by multifocal or diffuse hypometabolism. Our FDG‐PET results provided evidence of glucose hypometabolism in areas of necrosis and cavitation associated with necrotizing meningoencephalitis. FDG‐PET has the potential to provide valuable diagnostic information in dogs with suspected necrotizing encephalitis.     

Dystrophin-deficient muscular dystrophy in a Weimaraner

A 2-year-old, male Weimaraner with muscular dystrophy was presented with generalized muscle atrophy of the limbs; hypertrophy of the neck, infraspinatus, and lingual muscles; dysphagia; and regurgitation. Unilateral cryptorchidism, unilateral renal agenesis, and hiatal hernia were also detected. Spontaneous muscle activity was identified on myography. Serum creatine kinase was markedly elevated. Immunohistochemical staining for dystrophin was restricted to suspected revertant (characteristics of immaturity) fibers. Histologically, skeletal myofiber degeneration, endomysial fibrosis, and mineralization were present. Following euthanasia, necropsy revealed hypertrophy of the diaphragm and cardiac muscle fibrosis. This case of muscular dystrophy represents a slowly progressive form with organ agenesis.     

MAGNETIC RESONANCE IMAGING FEATURES OF PARASPINAL INFECTION IN THE DOG AND CAT

The magnetic resonance (MR) imaging findings in 22 dogs and two cats with confirmed paraspinal infection of the thoracolumbar spine were characterized. These findings included extensive T2-hyperintense areas (24/24), abscessation (20/24), mild inherent T1-hyperintensity of muscle and abscesses (18/24), and postcontrast enhancement (24/24). Changes involved the vertebral canal in four patients. The longus coli muscles were affected in one cat. Thoracolumbar changes in the remaining 23 patients involved the iliopsoas and epaxial muscles in 23/23 and 19/23 patients, respectively. Iliopsoas muscle abscessation was unilateral in 12/23, and bilateral in 6/24 patients. Abscessation involved both epaxial and iliopsoas muscles in 2/23 patients and the epaxial muscles alone in one patient. A contrast-enhancing sinus tract within the deep thoracolumbar fascia was present in 10/23 patients. Lumbar vertebrae periosteal reactions were identified in 19/23 patients on MR images compared with 15/17 patients with radiography. A focal area of signal void suspected to represent foreign material was seen in 5/23 patients but foreign material was actually found in only two of these five. There was no recurrence of clinical signs following MR imaging and revision surgery. MR imaging permits the severity and extent of changes associated with paraspinal infection to be characterized and allows the location, number and any communication of sinus tracts to be documented.     

Muscular dystrophy in female dogs

The most common form of muscular dystrophy in dogs and humans is caused by mutations in the dystrophin gene. The dystrophin gene is located on the X chromosome, and, therefore, disease-causing mutations in dystrophin occur most often in males. Therefore, females with dystrophin deficiency or other forms of muscular dystrophy may be undiagnosed or misdiagnosed. Immunohistochemistry was used to analyze dystrophin and a number of other muscle proteins associated with muscular dystrophy in humans, including sarcoglycans and laminin alpha2, in muscle biopsy specimens from 5 female dogs with pathologic changes consistent with muscular dystrophy. The female dogs were presented with a variety of clinical signs including generalized weakness, muscle wasting, tremors, exercise intolerance, gait abnormalities, and limb deformity. Serum creatine kinase activity was variably high. One dog had no detectable dystrophin in the muscle; another was mosaic, with some fibers normal and others partly dystrophin-deficient. A 3rd dog had normal dystrophin but no detectable laminin alpha2. Two dogs could not be classified. This study demonstrates the occurrence of dystrophin- and laminin alpha2-associated muscular dystrophy and the difficulty in clinical diagnosis of these disorders in female dogs.     

QUANTITATIVE MAGNETIC RESONANCE IMAGING OF THE NORMAL FELINE CRANIAL ABDOMEN

Magnetic resonance images of the cranial abdomen were acquired from 15 clinically normal cats. All cats had T1-weighted images, 8 cats had T2-images made and 7 cats had T1-weighted post Gd-DTPA images acquired. Signal intensity measurements for T1, T2, and T1 post contrast sequences were calculated for liver, spleen, gallbladder, renal cortex, renal medulla, pancreas, epaxial muscles, and peritoneal fat. On T1-weighted images the epaxial muscle had the lowest signal intensity, followed by renal medulla, spleen, renal cortex, pancreas, liver and fat, respectively. On T2-weighted images, epaxial muscle had the lowest signal intensity followed by liver, spleen, fat, and gallbladder lumen. Calculations of specific organ percent enhancement following contrast medium administration were made and compared with that reported in humans. A brief review of the potential clinical uses of MR in cats is presented.     

Magnetic resonance imaging of two suspected cases of global brain ischemia

Objective: To describe the clinical findings and magnetic resonance imaging (MRI) characteristics of two animals with suspected global brain ischemia (GBI). Series summary: Two brachycephalic animals (Persian cat and Boston terrier) presented for altered mentation, blindness, ataxia, and seizures after being anesthetized. Common to both anesthetic protocols was ketamine. Clinically, the neurological deficits developed rapidly and did not progress after the initial 24 hours. MRI findings were most consistent with GBI. MRI, including pre‐ and post‐T1 weighted, T2 weighted, and fluid‐attenuated inversion recovery (FLAIR) studies, was used to image these animals. Abnormalities were seen post‐T1, T2, and FLAIR. Both animals improved neurologically with supportive care over several weeks, but both remained blind. New information: The use of MRI for diagnosing GBI.     

CT AND MRI FEATURES OF CAROTID BODY PARAGANGLIOMAS IN 16 DOGS

Carotid body tumors (paragangliomas) arise from chemoreceptors located at the carotid bifurcation. In imaging studies, this neoplasm may be confused with other neck neoplasms such as thyroid carcinoma. The purpose of this retrospective, cross‐sectional study was to describe computed tomographic (CT) and magnetic resonance imaging (MRI) characteristics of confirmed carotid body tumors in a multi‐institutional sample of dogs. A total of 16 dogs met inclusion criteria (14 examined using CT and two with MRI). The most common reason for imaging was a palpable cervical mass or respiratory signs (i.e., dyspnea or increased respiratory noises). The most commonly affected breed was Boston terrier (n = 5). Dogs were predominantly male castrated (n = 10) and the median age was 9 years [range 3–14.5]. Most tumors appeared as a large mass centered at the carotid bifurcation, with poor margination in six dogs and discrete margins in ten dogs. Masses were iso‐ to hypoattenuating to adjacent muscles in CT images and hyperintense to muscles in T1‐ and T2‐weighted MRI. For both CT and MRI, masses typically showed strong and heterogeneous contrast enhancement. There was invasion into the adjacent structures in 9/16 dogs. In six of these nine dogs, the basilar portion of the skull was affected. The external carotid artery was entrapped in seven dogs. There was invasion into the internal jugular vein in three dogs, and into the external jugular, maxillary, and linguo‐facial veins in one dog. Imaging characteristics helped explain some clinical presentations such as breathing difficulties, Horner's syndrome, head tilt, or facial nerve paralysis.     

SEQUENTIAL MAGNETIC RESONANCE IMAGING OF AN INTRACRANIAL HEMATOMA IN A DOG

An 8-year-old Yorkshire terrier developed acute onset coma and seizure after cranial trauma. Intracranial hemorrhage was suspected from the clinical signs and history. Low-field magnetic resonance (MR) imaging revealed a round mass within the right cerebral hemisphere, compressing the right lateral ventricle and displacing the longitudinal fissure to the left. The lesion was hypointense on T1-weighted images and hyperintense on T2-weighted images, consistent with an acute hemorrhage. MR imaging was performed every 24 h for 6 days from 1 h after the injury, and then on day 14 of hospitalization. With time, the signal intensity changed to hyperintense on Ti-weighted images. On T2-weighted images the center of the mass changed to hypointense, and then to hyperintense with a hypointense rim. These changes of signal intensity were related to hemoglobin oxidation.     

IMAGING DIAGNOSIS‐INFILTRATIVE LIPOMA CAUSING SPINAL CORD AND LUMBAR NERVE ROOT COMPRESSION IN A DOG

A 12‐year‐old, male, fox terrier dog presented with an abnormal gait of the left pelvic limb. Computed tomography revealed a large, homogeneous, hypoattenuating, noncontrast enhancing mass within the left epaxial muscles that invaded the L5–6 vertebral canal and caused spinal cord compression. Imaging findings were consistent with an infiltrative lipoma. The mass was removed and a left hemilaminectomy was performed in the affected area. Histopathology confirmed the mass to be an infiltrative lipoma. The dog recovered and regained neurologic function within 2 weeks. Computed tomography assisted preoperative planning by characterizing the shape, size, and location of the mass.     

Hypertrophic feline muscular dystrophy: diagnostic overview and a novel immunohistochemical diagnostic method using formalin-fixed tissue

This paper describes a case of hypertrophic feline muscular dystrophy (HFMD) in the UK. The cat under investigation died unexpectedly following routine vaccination, and postmortem investigation revealed myopathy, particularly affecting the diaphragm as well as multiple skeletal muscles. The right lung lobes were also partially collapsed and this was considered secondary to the effect of the muscular dystrophy. Pathological and immunohistochemical findings are described, macroscopic and microscopic findings are compared with other recorded cases in the literature and a diagnostic overview of HFMD is given. Possible causes of death are also discussed and a novel immunohistochemical method of demonstrating dystrophin deficiency using formalin-fixed tissue is described.     

MAGNETIC RESONANCE IMAGING IN THE DIAGNOSIS OF CANINE INFLAMMATORY MYOPATHIES IN THREE DOGS

In humans affected with inflammatory myopathies, regions of altered signal intensity are found on magnetic resonance (MR) images of affected muscles. Although electromyography (EMG) is more practical for muscle disease evaluation, and a muscle biopsy is the only manner in which a definitive diagnosis can be made, MR imaging has proven useful if a specific anatomic localization is difficult to achieve. Three dogs with focal inflammatory myopathy diagnosed with the assistance of MR imaging are discussed and the findings are compared with those found in humans. MR images of the affected muscles in each dog were characterized by diffuse and poorly marginated abnormal signal on T1- and T2-weighted images. Marked enhancement was noted in these muscles after contrast medium administration. An inflammatory myopathy was confirmed histologically in all three dogs. A good association existed between the MR images and muscle inflammation identified histopathologically. MR imaging may be a useful adjunctive procedure for canine inflammatory myopathies.     

IMAGING DIAGNOSIS—MAGNETIC RESONANCE IMAGING FEATURES OF CRANIOMANDIBULAR OSTEOPATHY IN AN AIREDALE TERRIER

An Airedale Terrier was presented for evaluation of depression and reluctance to be touched on the head. Magnetic resonance (MR) imaging of the head was performed. The images revealed bone lesions affecting the calvarium at the level of the coronal suture and left mandibular ramus, with focal cortical destruction, expansion, and reactive new bone formation. Skull lesions were hypointense on T1‐weighted sequences, hyperintense on T2‐weighted sequences, and showed an intense and homogeneous enhancement after gadolinium administration. Reactive new bone formation and periosteal proliferation were confirmed histopathologically. The clinical signs, imaging findings, and histopathological examination were consistent with craniomandibular osteopathy.     

Muscular dystrophy due to a sarcoglycan deficiency in a female Dobermann dog

A four‐month‐old female Dobermann presented with myalgia, dysphagia, progressive weakness and loss of body condition. Diagnostic evaluation at nine months of age revealed markedly elevated serum creatine kinase activity, electromyographic abnormalities and histological evidence of chronic‐active muscle necrosis. Imaging confirmed dysphagia and aspiration pneumonia. Muscular dystrophy was suspected and immunohistochemical staining of muscle cryosections demonstrated reduced sarcoglycans. Treatment consisted of gastrostomy, and over the next 5 months the dog gained weight, despite continued loss of muscle mass. The dog died at 14 months of age after developing clinical signs of aspiration pneumonia. To the authors’ knowledge, this is the first report of muscular dystrophy in a Dobermann and only the second detailed report of a canine sarcoglycanopathy. Supportive care resulted in an acceptable quality of life for 10 months after clinical signs were first observed.     

Magnetic resonance imaging of a giant frontal hemorrhagic mucocele with intracranial extension in a cat

A 6‐year‐old domestic short‐haired cat was presented with an acute onset of right cortical encephalopathy. Magnetic resonance imaging (MRI) performed 4 days after the onset of clinical signs revealed a lesion originating from the right frontal sinus with intracranial extension and compression of the right frontal lobe. The lesion was T1‐weighted hypointense and T2‐weighted and fluid‐attenuated inversion recovery hyperintense. Signal voids within the lesion were observed on T2* images, consistent with hemorrhage. Peripheral ring enhancement was visible on postcontrast sequences. These features were consistent with a giant hemorrhagic mucocele. To the authors’ knowledge, this is the first report of MRI characteristics of this lesion in a cat.     

Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene

A 10-month-old, intact male Toy Poodle was referred for a postural abnormality. Blood biochemical tests revealed a marked increase in plasma creatine phosphokinase (CPK) concentration. The isoenzyme test showed that 99% of serum CPK consisted of CPK-MM. Histopathological evaluation of muscle biopsy samples confirmed scattered degeneration and necrosis of myofibers. Immunohistochemistry for dystrophin showed an absence of staining in muscle cells. Based on these findings, the dog was diagnosed with dystrophin-deficient muscular dystrophy. Whole genome sequencing using genomic DNA extracted from blood revealed a single base pair insertion in exon 45 of the Duchenne muscular dystrophy (DMD) gene. This is the first report on muscular dystrophy in Toy Poodles and identified a novel mutation in the DMD gene.     

3 Tesla magnetic resonance imaging study of the normal canine femoral and sciatic nerves

Understanding the normal course and optimizing visualization of the canine peripheral nerves of the lumbar plexus, in particular the sciatic and the femoral nerves, is essential when interpreting images of patients with suspected peripheral neuropathies such as inflammatory or neoplastic conditions. The purpose of this prospective, anatomic study was to describe the magnetic resonance imaging (MRI) anatomy of the normal canine femoral and sciatic nerves and to define the sequences in which the nerves are best depicted. A preliminary postmortem cadaver study was performed to determine optimal sequences and imaging protocol. In a second step the optimized technique was implemented on 10 healthy Beagle dogs, included in the study. The applied protocol included the following sequences: T1‐weighted, T2‐weighted, T2‐Spectral Attenuated Inversion Recovery, T1‐weighted postcontrast and T1‐Spectral Presaturated Inversion Recovery postcontrast. All sequences had satisfactory signal‐to‐noise ratio and contrast resolution in all patients. The sciatic and femoral nerves were seen in all images. They were symmetric and of homogeneous signal intensity, being iso‐ to mildly hyperintense to muscle on T2‐weighted, mildly hyperintense in T2‐Spectral Attenuated Inversion Recovery, and iso‐ to mildly hypointense in T1‐weighted images. No evidence of contrast enhancement in T1‐weighted and T1‐Spectral Presaturated Inversion Recovery postcontrast sequences was observed. The anatomic landmarks helpful to identify the course of the femoral and sciatic nerves are described in detail. This study may be used as an anatomical reference, depicting the normal canine femoral and sciatic nerves at 3 Tesla MRI.