Imaging and genetic investigations of neural tube defect in a calf: case report and review of the literature

Cagnotti, Giulia; Sammartano, Federica; Bertone, Iride; Capucchio, Maria Teresa; Nicola, Isabella; Sacchi, Paola; Bellino, Claudio; D’Angelo, Antonio

doi:10.1177/1040638718823037

Cited by 4 publications

(3 citation statements)

References 19 publications

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“…On the other hand, the CSF findings of the latter (Case 58) was unremarkable. Increased protein and nucleated cell count in the CSF have also been reported earlier in a calf showing neural tube defects (Cagnotti et al 2019). Congenital malformations in ruminants can have various causes, such as teratogenic chemicals (Panter & Stegelmeier 2011), genetic factors (Cagnotti et al 2019), and some viruses (Agerholm et al 2015).…”

Section: Resultssupporting

confidence: 55%

Cerebrospinal fluid analysis in 58 ruminants showing neurological disorders

et al. 2020

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Ruminants may be affected by a wide variety of central nervous system (CNS) diseases. Cerebrospinal fluid (CSF) analysis forms the basis for ante mortem diagnostic evaluation of ruminants with clinical signs involving the CNS. Despite its importance as a tool to aid diagnosis, data regarding CSF examinations in spontaneous cases of CNS diseases in ruminants from Brazil are limited, and most reports involve experimental studies. Therefore, this study aimed to report the results of CSF analysis in 58 ruminants showing signs of neurological disorders. CSF samples for analysis were obtained from 32 cattle, 20 sheep, and 6 goats by cerebello-medullary cistern (n=54) or lumbosacral space (n=4) puncture. These ruminants showed neurological signs related to viral (n=13), mycotic (n=3), or bacterial (n=15) infections, and toxic (n=21), traumatic (n=4), or congenital disorders (n=2). CSF analysis from ruminants with viral infections presented lymphocytic pleocytosis, even though CSF showed no changes in several cases of rabies. Neutrophilic pleocytosis, cloudiness, presence of fibrin clots, and abnormal coloration were evident in the CSF of most cases of CNS bacterial infection, such as meningoencephalitis, meningitis, abscesses, myelitis, and a case of conidiobolomycosis. On the other hand, CSF was unchanged in most cases of toxic disorders, as botulism and hepatic encephalopathy. Elevated CSF density was observed in 60% of ruminants diagnosed with polioencephalomalacia. Our findings show that evaluation of CSF is a valuable diagnostic tool when used in association with epidemiological, clinical and pathological findings for diagnosis of CNS diseases in ruminants.

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Section: Resultssupporting

confidence: 55%

Cerebrospinal fluid analysis in 58 ruminants showing neurological disorders

et al. 2020

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“…An important risk factor for NTDs is the deficiency in folic acid (vitamin B9), and laboratory animals with gene mutations in enzymes encoding mitochondrial folate metabolism express NTDs [45,46,48,49]. Folic acid in an essential nutrient for mammalian cell growth, being involved in the synthesis of essential components for fetal development, such as purine and pyrimidine, and in the conversion of homocysteine to methionine [62]. Because there were human cases in which maternal levels of folate were within the normal range and yet had affected products, it is clear that deficiency in folate can be a risk factor for NTDs, but there may also be a predisposing genotype [63].…”

Section: Discussionmentioning

confidence: 99%

Exencephaly–Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat

Marc,

Savici,

Sicoe

et al. 2023

Animals

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Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects.

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“…Typically, a dermoid sinus is outwardly visible as a depression in the skin, and may be associated with differences in coat streaming in animals. Cases of dermoid sinus occur in several species, and are most commonly reported in dogs (Cornegliani & Ghibaudo, 1999; Motta et al, 2012; Pratt et al, 2000), followed by cats (Fleming et al, 2011; Tong & Simpson, 2009) and cattle (Cagnotti et al, 2019) (Tables 2 and 4).…”

Section: Spinal Ntdsmentioning

confidence: 99%

Comparison of inherited neural tube defects in companion animals and livestock

Zarzycki

Thomas

Mazrier

2020

Birth Defects Research

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Neural tube defects (NTDs) are congenital malformations resulting from the improper or incomplete closure of the neural tube during embryonic development. A number of similar malformations of the protective coverings surrounding the central nervous system are also often included under this umbrella term, which may not strictly fit this definition. A range of NTD phenotypes exist and have been reported in humans and a wide range of domestic and livestock species. In the veterinary literature, these include cases of anencephaly, encephalocele, dermoid sinus, spina bifida, and craniorachischisis. While environmental factors have a role, genetic predisposition may account for a significant part of the risk of NTDs in these animal cases. Studies of laboratory model species (fish, birds, amphibians, and rodents) have been instrumental in improving our understanding of the neurulation process. In mice, over 200 genes that may be involved in this process have been identified and variant phenotypes investigated. Like laboratory mouse models, domestic animals and livestock species display a wide range of NTD phenotypes. They remain, however, a largely underutilized population and could complement already established laboratory models. Here we review reports of NTDs in companion animals and livestock, and compare these to other animal species and human cases. We aim to highlight the potential of nonlaboratory animal models for mutation discovery as well as general insights into the mechanisms of neurulation and the development of NTDs.

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Imaging and genetic investigations of neural tube defect in a calf: case report and review of the literature

Cited by 4 publications

References 19 publications

Cerebrospinal fluid analysis in 58 ruminants showing neurological disorders

Cerebrospinal fluid analysis in 58 ruminants showing neurological disorders

Exencephaly–Anencephaly Sequence Associated with Maxillary Brachygnathia, Spinal Defects, and Palatoschisis in a Male Domestic Cat

Comparison of inherited neural tube defects in companion animals and livestock

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