Prevalence of neurological diseases associated with cervical pain and/or signs of cervical myelopathy in French bulldogs: a retrospective analysis of 105 cases.

Introduction: French bulldogs can be affected by several neurological diseases, with myelopathies representing the most frequent cause of neurological signs. Studies focusing on the epidemiology of cervical diseases in this breed are lacking. This study aims to describe the prevalence of neurological pathologies responsible for cervical pain and/or signs of cervical myelopathy, assuming that intervertebral disc herniation represents the most common disease; a second aim was to evaluate how often different pathologies coexist in this spinal region in French bulldogs. Materials and methods: A retrospective analysis of medical records from the database of a single referral center (AniCura I Portoni Rossi Veterinary Hospital-Zola Predosa, Bologna, Italy) was performed, including French bulldogs presented for neck pain and/or neurological deficits consistent with cervical myelopathy. Clinical and imaging data were reviewed and used as inclusion criteria. Based on the number of MRI-diagnosed diseases, the eligible dogs were divided into three groups. Results: One hundred five French bulldogs met the inclusion criteria. The most commonly diagnosed condition was an intervertebral disc herniation (66.9%), followed by C2 idiopathic hypertrophic ganglioneuritis (15.1%), cervical syringomyelia (11.5%), congenital osseous malformations (1.4%), spinal arachnoid diverticula (1.4%), neoplasms (1.4%), steroid-responsive meningitis-arteritis (0.7%), traumatic vertebral fractures (0.7%), and other (0.7%). For the vast majority of dogs (75/105) a single pathology was diagnosed, with intervertebral disc herniations accounting for 86.7% of cases, involving C3-C4 IVD most commonly. In the remaining 30 dogs, two or three different and concurrent diseases were detected. Among these 30 dogs, intervertebral disc herniations still remained the most diagnosed condition, in combination with C2 idiopathic hypertrophic ganglioneuritis and syringomyelia in 19 and seven cases, respectively. Conclusion: The results of this study highlight that different pathologies can affect the cervical spinal cord in French bulldogs, with intervertebral disc herniations representing the most frequent condition, as previously described in the veterinary literature. In almost a third of cases, different pathologies can coexist at the cervical level. However, for cases in which different pathologies are present at the same time, it is not always possible to clearly establish their clinical significance.

MRI and CT features of a disc herniation through a fractured lumbar vertebra causing lumbar spinal cord compression in a dog.

A 5-year-old intact male Saint Bernard was presented for paraparesis following a fall down the stairs. Magnetic resonance imaging revealed a chronic fragmentation of the dorsocaudal aspect of the second lumbar vertebral body (L2). Material migrated from the L2 to L3 intervertebral space through the fractured caudal vertebral endplate into the vertebral body and reached the vertebral canal, resulting in a severe extradural compressive myelopathy. Computed tomography confirmed the vertebral fragmentation. Histology of surgically removed compressive material revealed fibrocartilaginous material. The uncommon route of the extruded disc material through a fractured vertebral body makes this case of traumatic disc extrusion unusual.

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

OBJECTIVES: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. METHODS: Prenatal diagnostic test results obtained by Italian laboratories between 2013 and March 2020 were compiled for women with positive non-invasive prenatal tests (NIPT), without an NIPT result, and cases where there was sex discordancy between the NIPT and ultrasound. PPV and other summary data were reviewed. RESULTS: Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs. PPVs for T21, T18, and T13 were significantly higher when diagnostic confirmation was carried out on chorionic villi (97.5%) compared to amniotic fluid (89.5%) (p < 0.001). In 19/139 (13.9%), of no result cases, a cytogenetic abnormality was detected. Follow-up genetic testing provided explanations for 3/6 cases with a fetal sex discordancy between NIPT and ultrasound. CONCLUSIONS: NIPT PPVs differ across the conditions screened and the tissues studied in diagnostic testing. This variability, issues associated with fetal sex discordancy, and no results, illustrate the importance of pre- and post-test counselling.

Prevalence of idiopathic epilepsy and structural epilepsy in 74 Boxer dogs in a referral hospital.

The prevalence of idiopathic epilepsy and structural epilepsy in Boxer dogs is unknown. The aim of this retrospective study was to evaluate the prevalence of structural and idiopathic epilepsy in the Boxer population. A total of 74 Boxer dogs were included in the study from the database of one referral hospital and the following were recorded: signalment, history, clinical findings and results of advanced diagnostic imaging. Five dogs (6.8%) were diagnosed with idiopathic epilepsy, of which one was in the <6 months age group, three were in the 6-72 months age group and one was in the >72 months age group. Sixty-nine dogs (93.2%) were diagnosed with structural epilepsy. Sixty-six had a suspected intracranial neoplasia: Eight were in the 6-72 months age group and represent 66.7% of the dogs in that age group. The other fifty-eight were in the >72 months age group and represent 96.7% of the dogs in that age group. In our Boxer population, 81.8% of the patients had a suspected intra-axial tumor and 22.7% of dogs with an intracranial pathology nevertheless had a normal neurological examination. In conclusion, in the majority of boxer patients the cause of epilepsy is a suspected intracranial neoplasia regardless of the age at presentation. Considering the finding in this study of a low prevalence of presumed idiopathic epilepsy in the Boxer breed, it is recommended that patients who satisfy Tier I confidence level of the "International Veterinary Epilepsy Task Force" (IVETF) also undergo an MRI study of the brain.

Prevalence, clinical presentation and MRI of intervertebral disc herniations in cats.

OBJECTIVES: The aims of this study were to evaluate the prevalence and to describe the clinical and diagnostic imaging features of the different types of feline intervertebral disc herniation (IVDH). METHODS: Medical records and imaging studies were retrospectively reviewed for cats diagnosed with IVDH between January 2008 and October 2020. Information obtained from the clinical records included signalment, clinical presentation, the presence of spinal hyperaesthesia and neurolocalisation. Diagnostic imaging findings, including type (ie, intervertebral disc extrusion [IVDE], intervertebral disc protrusion [IVDP] or acute non-compressive nucleus pulposus extrusion (ANNPE), site and number of IVDHs, were recorded. The association between breed, age, sex, duration and severity of neurological signs, the presence of spinal pain and MRI features was evaluated. RESULTS: Forty-three cats were included. A total of 50 IVDHs were identified: 39 cats were diagnosed with a single IVDH and four with multiple IVDHs. The most common type of IVDH was ANNPE (n = 22), followed by IVDP (n = 19) and IVDE (n = 9). Neuroanatomical localisation included L4-S3 (n = 19/43), T3-L3 (n = 18/43) and C1-C5 (n = 6/43). Cats with a single IVDH were statistically significantly associated with a diagnosis of ANNPE (P = 0.023) compared with cats with multiple IVDHs affected by IVDP (P = 0.004). Males were more commonly affected by IVDE (P = 0.020) and females by ANNPE (P = 0.020). Cats with IVDP had a longer duration of clinical signs (P <0.001) than cats with ANNPE and demonstrated milder neurological deficits (P = 0.005). IVDEs were statistically significantly associated with spinal hyperaesthesia (P = 0.013), while ANNPEs were not (P = 0.014). CONCLUSIONS AND RELEVANCE: ANNPE, IVDP and IVDE are each associated with distinctive clinical scenarios. Thoracolumbar and mid-to-caudal lumbar regions are the most affected, followed by the cranial cervical spine segment.

Malignant Nerve Sheath Tumor of the Hypoglossal Nerve in a Maltese Dog.

A 4 yr old male Maltese dog presented with a 1 wk history of intermittent neck pain and progressive difficulty walking. Neurologic evaluation was consistent with a left-sided brainstem lesion. On oral examination, left lingual hemiatrophy was evident suggesting hypoglossal nerve involvement. A dumbbell-shaped extra-axial mass in the left side of the caudal fossa extending extracranially through the hypoglossal canal was detected by MRI. At postmortem histologic examination, the hypoglossal nerve was diffusely infiltrated by fusiform neoplastic cells arranged in Antoni A and Antoni B patterns. This is the first description of a malignant nerve sheath tumor selectively involving the hypoglossal nerve in a dog.

Selective symmetrical necrotizing encephalopathy secondary to primary mitochondrial disorder in a cat.

A 2-year-old female cat was referred for progressive neurological signs indicative of involvement of the prosencephalon, cerebellum, and brainstem. Magnetic resonance imaging identified multifocal, bilateral, symmetrical lesions with strong contrast enhancement, affecting multiple areas of the brain. Neuropathology at necropsy showed demyelination, necrotic lesions, spongiosis, and neuropil edema with reactive astrogliosis and neovascularization. Ultrastructural study indicated mitochondrial polymorphism. Genetic investigations outlined 2 polymorphisms within the tRNA-Leu(UUR) gene of mitochondrial DNA. Imaging and neuropathological findings were consistent with selective symmetrical necrotizing encephalopathy, for which genetic investigations support mitochondrial pathogenesis.

Clinical, MRI, and Histopathological Features of Hypothalamic Neuronal Hamartoma in a Young Vizsla.

Human hypothalamic neuronal hamartomas are rare, nonprogressive, congenital malformations of the hypothalamus that do not expand or metastasize to other locations. A 1 yr old female vizsla was presented for progressive intracranial multifocal neurological signs present since adoption at 3 mo of age. MRI of the brain showed an ill-defined, intra-axial, space-occupying, nonenhancing lesion located in the ventral middle cranial fossa. Histopathological examination was consistent with hypothalamic neuronal hamartoma. This is the first report describing clinical, imaging, and histopathological features of a hypothalamic neuronal hamartoma in a dog. These findings are compared with their human counterparts.

Perilesional photobiomodulation therapy and physical rehabilitation in post-operative recovery of dogs surgically treated for thoracolumbar disk extrusion.

BACKGROUND: Recent studies have reported contrasting results of the effects of laser therapy on post-operative intervertebral disk herniation, with a lack of evidence-based advantages of this modality within a rehabilitation protocol. The aim of this study was to report the clinical effects of photobiomodulation therapy within a post-operative rehabilitation protocol in dogs submitted to surgery for thoracolumbar disk extrusion. Twenty-four dogs were included in the study (12 dogs treated with laser therapy and rehabilitation protocol and 12 dogs treated with same rehabilitation protocol but without laser therapy). RESULTS: All dogs treated with laser therapy showed improved neurological status (Modified Frankel Score more than 3 within 30 days of physiotherapy starting) if deep nociception on admission was maintained (P = 0.04). However, Kaplan-Meier analysis did not show any statistical difference in time to regain ambulatory ability, although there was a tendency for a shorter mean time of 14.2 ± 8.55 days in the laser group versus 24 ± 18.49 days in the no laser group. CONCLUSIONS: The use of laser therapy in the post-operative rehabilitation of dogs affected by intervertebral disc extrusion and submitted to surgery for spinal decompression could help improve their neurological status.

A leukomyeloencephalopathy of unknown origin in an Azawakh dog.

A diffuse bilaterally symmetrical leukomyeloencephalopathy was observed in a 6-year-old male Azawakh dog showing a slowly progressive ataxia of six months duration associated with sensory disorders. Severe bilaterally symmetrical demyelination and vacuolisation were confined to the dorsal columns along the entire spinal cord with a minor axonal degeneration. The main changes of myelin sheaths consisted in splitting and intramyelin vacuolization. Naked axons were scattered in a network of astrocytic processes and collagen fibres. Few reactive macrophages exhibiting a foamy pattern were observed adjacent to the small vessels. In the brain, cuneatus nuclei showed a number of atrophic neurons. A spongy change was observed in the raphe nuclei, spinal tract and nuclei of trigeminal nerve, and caudal cerebellar peduncles. Lesions there were neither in the spinal and trigeminal nerves, nor in the spinal ganglia. Although in the absence of a pedigree analysis support an inherited cause cannot be completely excluded.

Serum creatine kinase isoenzymes and macroenzymes in dogs with different neurologic diseases.

BACKGROUND: Increased serum activity of CK isoenzymes and macroenzymes, and in particular of the brain isoenzyme (CK-BB) has been reported in dogs with central nervous system (CNS) disorders. However, no studies on the possible differences in serum activities of CK iso- or macroenzymes (Macro-CK1 and Macro-CK2) in different neurologic diseases are available. OBJECTIVE: The aim of this study was to describe the electrophoretic distribution of CK iso- and macroenzymes in dogs with CNS disorders in order to assess whether this distribution depends on a specific neurologic disease. METHODS: This study was done on sera from 45 dogs with neurologic diseases (degenerative, n = 7; idiopathic epilepsy [IE], n = 14; inflammatory, n = 16; space occupying lesions [SOL], n = 8) and from 10 clinically healthy dogs. The separation of serum CK isoenzymes and macroenzymes was performed using an automated electrophoretic method already validated in dogs. RESULTS: Compared with healthy dogs, dogs with CNS disorders had significantly higher total CK and CK-BB activities, and a significantly lower Macro-CK2 activity (P < .001). Comparison of pathologic subgroups and healthy dogs revealed significant differences (P < .01) in dogs with IE and inflammatory disorders for total CK activity, in all the subgroups for CK-BB (P < .01), and in dogs with IE and SOL for Macro-CK2 (P < .01). CONCLUSIONS: The results of this study suggest that CK-BB is released by neurons damaged by inflammatory or degenerative conditions or due to compressive effects of SOL. However, the neurologic diseases cannot be differentiated based on CK-BB or Macro-CK2 activities, unless further studies allow the definition of diagnostic thresholds.

Neurogenic urinary retention in cats following severe cluster seizures.

Case series summary Four cats that presented with severe cluster seizures developed neurogenic urinary retention in the postictal phase. None of the cats had previous seizures. Micturition was reported as normal in all cats for 3 or more years before seizure onset. All cats required a continuous rate infusion of propofol to control the seizure activity. In all cats manual bladder expression was performed every 8 h until recovery of normal micturition. One cat was started on phenoxybenzamine to reduce internal urethral sphincter tone. All cats recovered normal micturition within 4 weeks of the last cluster of seizures. Relevance and novel information Transient neurogenic urinary retention has not previously been reported in cats or dogs following severe cluster seizures. Urinary retention should be considered a potential postictal deficit, requiring prompt recognition and treatment to avoid urinary tract infection and detrusor muscle atony.

Risk factors for diskospondylitis in dogs after spinal decompression surgery for intervertebral disk herniation.

OBJECTIVE To determine the incidence of and risk factors for development of postoperative diskospondylitis (POD) in dogs that underwent spinal decompression surgery for intervertebral disk herniation (IVDH). DESIGN Retrospective single cohort study. ANIMALS 372 dogs that underwent spinal decompression surgery for IVDH between January 2007 and January 2011. PROCEDURES Medical records of dogs were retrospectively reviewed. Data regarding signalment, type and anatomic site of IVDH, severity of neurologic signs, type of surgery, duration of anesthesia, esophageal temperature during surgery, and use of corticosteroid drugs were analyzed for associations with POD. RESULTS POD developed in 8 of 372 (2.2%) dogs. Univariate analysis revealed that German Shepherd Dogs had 9.8 times the odds of POD, compared with the odds for other breeds. In addition, dogs > 8.8 years of age, weighing > 20 kg (44 lb), or having disk protrusions were at higher risk of developing POD than were other dogs. The only factor that retained a significant association with POD after controlling for other factors in multivariate analysis was body weight > 20 kg. CONCLUSIONS AND CLINICAL RELEVANCE Factors identified in this study may be useful for prediction of POD, an apparently uncommon outcome, in dogs undergoing spinal decompression surgery for IVDH. Dogs at higher risk than others, particularly those weighing > 20 kg, should be monitored carefully in the immediate postoperative period, and signs of worsening neurologic condition after initial improvement should be promptly investigated.

Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases.

We report on a child with mild mental retardation, hypotelorism, blepharophimosis, face slight asymmetry and partial hypoplasia of corpus callosum, with an interstitial deletion of a chromosome 15. The deletion was molecularly characterized by array-CGH and FISH techniques. This rearrangement has a 7.18Mb extension and maps to 15q21.2q22.1. To date, there have been only six individuals reported with a deletion of 15q21; in three cases, the rearrangement was characterized by molecular cytogenetic techniques. After a comparison with these three cases, it appeared that the deletion we found is one of the smallest and it overlaps the distal portion of the ones taken into account. Finally, we tried to delineate the genotype-phenotype correlation in patients with a deletion of 15q21.