Congenital Large Intestinal Hypoganglionosis in a Domestic Shorthair Kitten

Roe, Kirsty; Syme, H M; Brooks, Harriet

doi:10.1016/j.jfms.2010.04.001

Cited by 8 publications

(4 citation statements)

References 10 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Histopathological examination of the colon revealed a segmental, distal hypoganglionosis with hypertrophy of the musculature and nerve fibers, as well as chronic inflammation with the formation of granulation tissue. These findings resemble another case report of a kitten with congenital colonic hypoganglionosis [ 22 ] and the diagnostic criteria for the congenital megacolon, known as “Hirschsprung’s disease” (HSCD) in humans [ 23 ]. The aganglionosis, seen in HSCD, is occasionally seen together with complex skeletal malformations [ 24 ] and could be caused by impaired migration and differentiation of neural stem cells from the neural crest [ 25 ].…”

Section: Discussionsupporting

confidence: 80%

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia

Garces

Knebel²,

Hülskötter³

et al. 2021

Genes

View full text Add to dashboard Cite

We investigated a highly inbred family of British Shorthair cats in which two offspring were affected by deteriorating paraparesis due to complex skeletal malformations. Radiographs of both affected kittens revealed vertebral deformations with marked stenosis of the vertebral canal from T11 to L3. Additionally, compression of the spinal cord, cerebellar herniation, coprostasis and hypogangliosis were found. The pedigree suggested monogenic autosomal recessive inheritance of the trait. We sequenced the genome of an affected kitten and compared the data to 62 control genomes. This search yielded 55 private protein-changing variants of which only one was located in a likely functional candidate gene, LTBP3, encoding latent transforming growth factor β binding protein 3. This variant, c.158delG or p.(Gly53Alafs*16), represents a 1 bp frameshift deletion predicted to truncate 95% of the open reading frame. LTBP3 is a known key regulator of transforming growth factor β (TGF-β) and is involved in bone morphogenesis and remodeling. Genotypes at the LTBP3:c.158delG variant perfectly co-segregated with the phenotype in the investigated family. The available experimental data together with current knowledge on LTBP3 variants and their functional impact in human patients and mice suggest LTBP3:c.158delG as a candidate causative variant for the observed skeletal malformations in British Shorthair cats. To the best of our knowledge, this study represents the first report of LTBP3-related complex skeletal dysplasia in domestic animals.

show abstract

Section: Discussionsupporting

confidence: 80%

LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia

Garces

Knebel²,

Hülskötter³

et al. 2021

Genes

View full text Add to dashboard Cite

show abstract

“…In this case, there was an initial high index of suspicion for a congenital rectal stricture based on the relatively abrupt termination of the dilated portion of colon seen on radiographs and because of the findings on digital rectal examination. Congenital large intestinal hypoganglionosis has been previously described in a kitten and was initially considered as a differential for this cat 1. Given the age of the patient and duration of clinical signs (likely since birth), an acquired stricture due to colonic inflammation, neoplastic disease and idiopathic acquired megacolon were considered very unlikely.…”

Section: Discussionmentioning

confidence: 99%

Balloon dilation of a congenital rectal stricture in a 16‐week‐old kitten

Kelly

Wagner

Lamb

2020

Vet Record Case Reports

View full text Add to dashboard Cite

A 16-week-old Persian kitten was referred for investigation of constipation and failure to grow. The owner reported that the kitten had always strained to defecate. Abdominal radiographs confirmed megacolon and CT pneumocolography confirmed the presence of a caudal rectal stricture. During a single procedure and under fluoroscopic guidance, the stricture was effaced by sequentially dilating 10-mm and 15-mm balloons. Shortly after discharge, the owner reported complete resolution of clinical signs and oral laxatives were stopped. Repeat radiographs 1 month post dilation showed resolution of the diffuse megacolon and the cat appeared well and had gained weight. This is the first report of a congenital rectal stricture in a kitten and one of the few reports documenting balloon dilation for the treatment of stenotic anorectal lesions (congenital or acquired) in cats.

show abstract

“…A single case diagnosed on postmortem histopathology was recently reported in a kitten (Roe et al 2010). The underlying patho physiology in Hirschsprung disease is congenital absence of intramural myenteric ganglion cells in the submucosal plexus (part of the parasympathetic nervous system) that leads to loss of peristaltic activity (segmental aganglionic megacolon).…”

Section: Congenital Megacolon (Hirschsprung Disease)mentioning

confidence: 99%