Diagnosis Of Currarino Syndrome Research Articles

Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

BackgroundCurrarino syndrome is a rare congenital malformation having autosomal dominant inheritance. It comprises of anorectal malformation, presacral mass, and sacral vertebral defect occurring in variable proportion. The most common presentation is chronic constipation which is usually due to compression of rectum by anterior sacral mass. If clinical examination is not properly done and digital rectal examination is excluded from the examination, it can be misdiagnosed as other common cause of constipation like Hirschsprung disease.Case presentationWe are reporting one such case of one-and-half-year-old female child with chronic constipation which was initially managed as Hirschsprung disease, but later on, after a repeat clinical examination with digital rectal examination, it was evaluated on the line of Currarino syndrome. The diagnosis was confirmed by contrast-enhanced computed tomography of abdomen with 3 dimensional reconstruction. It was then managed by posterior sagittal approach with excision of mass and anorectoplasty.ConclusionA proper protocol for clinical evaluation of patient with constipation prevents diagnostic dilemma between surgical causes of constipation in pediatric age group. Digital rectal examination must be included in the protocol for evaluation of chronic constipation. In pediatric age group, clinical workup should be done with keeping in mind the rare diagnosis of Currarino syndrome along with common cause of constipation like Hirschsprung disease.

Currarino Syndrome (SC): A case at the University Hospital of Mother and Child Lagune Cotonou

Introduction: The Currarino syndrome (CS) is one of the rare syndromic forms of anorectal malformations (ARM). Observation: This is the clinical case of a 3 days male newborn admitted for high ARM in the pediatric surgery Department of the Lagune Mother and Child University Hospital of Cotonou. An emergency colostomy was performed. At the age of 7 months as a prelude to anorectoplasty, the distal colography revealed a semilunar pelvic opacity in front of the sacrum. The posterior sagittal approach according to Peña could not reveal the distal end of the intestine. The reconstruction of the sphincter-muscular complex was done on a tracheal tube. The abdominal approach allowed the discovery and resection of a presacral mass. The rectal pouch end found was then lowered. Post-operative follows up was uneventful. The standard postoperative X-ray revealed a partial agenesis of the sacrum. The histology of the operative specimen found a cystic lipoma. The diagnosis of CS was done. The search of a HLXB9 mutation was not possible. Conclusion: The clinical observation associated with standard radiological investigations highlighted the triad: anorectal malformation, presacral tumor, and partial agenesis of the sacrum, which upheld the diagnosis of CS; but the search for an indispensable HLXB9 mutation was lacking for the genetic link.

Currarino syndrome with intramedullary spinal cord abscess related communication between the tethered cord and a presacral mass: A case report

Abstract We herein report the case of a 21-day-old boy in which the detection of an intramedullary spinal cord abscess led to the diagnosis of Currarino syndrome (CS). He had a complete phenotype of CS, including sacral agenesis, an anorectal malformation, a presacral mass, and spinal cord malformations. In addition, he had an intramedullary spinal cord abscess. Intramedullary spinal cord abscess is rare in CS and is thought to require immediate intervention. Therefore, we additionally reviewed the available literature and discussed the therapeutic approach for CS with an intramedullary cord abscess.

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype

The Currarino syndrome (CS) consists of a sacral defect, an anorectal malformation and a pre-sacral mass. It manifests as an autosomal dominant congenital malformation in familial settings, with varying penetrance. The disease-causing gene, Motor neuron and pancreas homeobox-1 (MNX1), is known to be mutated in almost all familial cases, but due to the lack of genotype–phenotype correlation, there is a need for better clinical and molecular genetic characterization of the CS. Here, we report two novel mutations in the MNX1 gene in two cases. Each case was found to be familial upon further investigation of the other members of each family. The first affected case (a one year old boy) exhibited a missense mutation, p.Phe289Ser, in exon 3 in the highly conserved third helix of the homeodomain, which is considered to affect the DNA binding property and transcription regulation of the protein. The mutation seemed to display full penetrance of the disease in this family, but with different time of on-set. The second affected case (a 5months old boy) displayed a 13 basepair insertion in exon 1, creating a complex frameshift mutation which results in a premature truncation of the protein that lacks the third helix homeodomain. Other members of the boy's family, who harbored the same mutation, were found to be completely asymptomatic. In conclusion, we detected two novel mutations in the MNX1 gene in cases with CS, which supports mutational analysis in the diagnosis of CS, even though the variability in the genotype and phenotype correlation maintains.

Unusual Cases of Meningitis as a Clue to the Diagnosis of Currarino Syndrome

Unusual Cases of Meningitis as a Clue to the Diagnosis of Currarino Syndrome