Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation

Hall, T.; Bush, Andrew; Fell, John; Offiah, A.C.; Smith, Virpi V.; Abel, Robin

doi:10.1002/ppul.20960

Cited by 8 publications

(6 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[ 8 ] Foregut dysmotility has recently been speculated to be extended spectrum of JATD by Hall et al . [ 1 ] Our patient and the one reported by Hall et al . [ 1 ] are both cases of JATD with situs anomalies and gastric motility disorder.…”

Section: Discussionsupporting

confidence: 59%

“…A recent report has proposed that JATD may present with foregut dysmotility. [ 1 ] We report a new patient of JATD with an extremely rare constellation of associated anomalies comprising gastric motility disorder and situs inversus totalis. To the best of our knowledge and PubMed review, our report is the second case of such a syndromic association of JATD with gastric motility disorder and situs inversus.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Primary presentation of Jeune’s syndrome as gastric motility disorder in an infant: A case report

Katyan

Grover

Rajani

et al. 2018

Indian Journal of Radiology and Imaging

View full text Add to dashboard Cite

We report a case of a 4-week-old female neonate with Jeune's asphyxiating thoracic dystrophy (JATD) and coexistent situs anomaly, primarily presenting as gastric motility disorder. The child presented with abdominal distension and nonbilious vomiting since birth with failure to thrive. However, skeletal survey revealed JATD. Upper gastrointestinal contrast study showed situs inversus with delayed gastric emptying. Pyloric biopsy and intraoperative antro-duodenal manometry confirmed association of gastric motility disorder. Awareness of the unusual possibility of primary presentation of Jeune syndrome as gastric motility disorder will improve the management approach in such infants.

show abstract

Section: Discussionsupporting

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Primary presentation of Jeune’s syndrome as gastric motility disorder in an infant: A case report

Katyan

Grover

Rajani

et al. 2018

Indian Journal of Radiology and Imaging

View full text Add to dashboard Cite

show abstract

“…Age of occurrence has been variable. JATD can also occasionally be associated with GI malformations including cystic changes of the pancreas with fibrosis, Hirschsprung's disease, and malrotation as a manifestation of the ciliopathy [29,30].…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

2016

View full text Add to dashboard Cite

Jeune syndrome or asphyxiating thoracic dystrophy (JATD) is a rare autosomal recessive disorder with an estimated incidence of 1 in 100,000 to 130,000 live births. The typical phenotype of JATD is osteochondrodysplasia (narrow thorax and shorted ribs) in association with short limb dwarfism. The thoracic dysplasia results in respiratory insufficiency, usually requiring tracheostomy and chronic mechanical ventilation beginning in infancy and childhood. Lateral thoracic expansion is one surgical procedure that has been described in an attempt to enlarge the thoracic cage and alleviate the progressive respiratory failure. In addition to respiratory involvement, patients with JATD may have other co-morbid conditions involving the kidneys, pancreas, liver, and eyes. Given the underlying thoracic dysplasia and other associated comorbid conditions, the intraoperative care of such patients can be challenging. We present two patients with JATD who presented for lateral thoracic expansion. Previous reports of the intraoperative care of such patients are reviewed and options for anesthetic care are discussed.

show abstract

“…Hands and feet may show cone-shaped epiphyses (Fig 24). In addition to the skeletal manifestations, visceral involvement is demonstrated by renal and pancreatic cysts, intrahepatic bile duct dilatation, intestinal malrotation, and situs anomalies (85,86,90). Many patients die in the neonatal period due to pulmonary hypoplasia related to the small thorax, but patients who survive develop progressive renal failure due to a nephronophthisis-like renal defect.…”

Section: Cns Ciliopathiesmentioning

confidence: 99%

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

Chung¹,

Conran²,

Schroeder³

et al. 2014

RadioGraphics

View full text Add to dashboard Cite

Genetic defects of cilia cause a wide range of diseases, collectively known as ciliopathies. Primary, or nonmotile, cilia function as sensory organelles involved in the regulation of cell growth, differentiation, and homeostasis. Cilia are present in nearly every cell in the body and mutations of genes encoding ciliary proteins affect multiple organs, including the kidneys, liver, pancreas, retina, central nervous system (CNS), and skeletal system. Genetic mutations causing ciliary dysfunction result in a large number of heterogeneous phenotypes that can manifest with a variety of overlapping abnormalities in multiple organ systems. Renal manifestations of ciliopathies are the most common abnormalities and include collecting duct dilatation and cyst formation in autosomal recessive polycystic kidney disease (ARPKD), cyst formation anywhere in the nephron in autosomal dominant polycystic kidney disease (ADPKD), and tubulointerstitial fibrosis in nephronophthisis, as well as in several CNS and skeletal malformation syndromes. Hepatic disease is another common manifestation of ciliopathies, ranging from duct dilatation and cyst formation in ARPKD and ADPKD to periportal fibrosis in ARPKD and several malformation syndromes. The unifying molecular pathogenesis of this emerging class of disorders explains the overlap of abnormalities in disparate organ systems and links diseases of widely varied clinical features. It is important for radiologists to be able to recognize the multisystem manifestations of these syndromes, as imaging plays an important role in diagnosis and follow-up of affected patients.

show abstract

Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation

Cited by 8 publications

References 17 publications

Primary presentation of Jeune’s syndrome as gastric motility disorder in an infant: A case report

Primary presentation of Jeune’s syndrome as gastric motility disorder in an infant: A case report

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation

Contact Info

Product

Resources

About