The 2-year-old girl Chu Chu (pseudonym) has been transferred to many hospitals due to "constipation that progressively worsens after birth", and laxatives and caesares are common medicines at home, but the effect is not good, and she can only be hospitalized repeatedly for bowel lavage. During this period, a number of examinations were also performed, and even after the biopsy surgery, the diagnosis could not be definitively diagnosed and the symptoms could not be relieved, and the child and the parents were physically and mentally exhausted.
In December 2023, the parents consulted Zhou Ruijie, a general (neonatal) surgeon at the Capital Institute of Pediatrics, online, and the doctor asked about the medical history in detail, checked the imaging results, and found that the initial rectal dilation was obvious.
At first, the parents who had gone through twists and turns couldn't believe that Zhou Ruijie had a clear diagnosis so quickly, and decided to come to Beijing after the doctor's patient explanation. In the outpatient clinic of Chief Physician Li Ji, he pointed out the problems to the point: **stenosis, abnormal dilatation and hypertrophy of the rectum, deformity of the sacrum, cystic masses and fatty components can be seen in front of the sacrum, it is considered to be a mature teratoma, and the diagnosis of Currarino syndrome is clear, and surgery is needed as soon as possible**.
Contrast shows rectal dilation.
MRI showed rectal dilation, presacral mass, and sacral deformity.
Currarino syndrome is a complex malformation caused by genetic mutations, which manifests in a variety of forms, including narrowing (chimney-like**), presacral mass, rectal dilation, sacral deformity, etc., and the prominent symptom is intractable constipation. Some children with Currarino syndrome will be misdiagnosed as a simple "stenosis" and undergo enlarged plasty.
On January 4, 2024, Chu Chu was pushed into the operating room, and Chief Physician Li Ji used laparoscopic giant rectalectomy + laparoscopic-assisted enlargement molding + transsacral presacral mass resection to solve the three lesions of the intestine, ** stenosis and presacral teratoma through only 4 small holes in the abdomen. After the operation, I recovered well at first and has now returned to normal life.
Chief Physician Li Ji said that for children with recurrent constipation, it is necessary to pay attention to the first examination, and once the first stenosis is found in the physical examination, the imaging and MRI examination should be actively improved, and the symptoms such as megarectum, presacral mass, and sacral deformity should be fully evaluated. Laparoscopic minimally invasive surgery can be used to deal with three lesions at one time, rectum and mass, in order to solve the risk of stubborn constipation caused by stricture and megarectum and the potential infection risk of presacral mass.
The number of patients admitted to the Department of General (Neonatal) Surgery for Currarino syndrome is leading at home and abroad, and we provide standardized, individualized and high-quality treatment for children with Currarino syndrome through multidisciplinary collaboration**. Some children with neural tube malformations (meningocele, tethered spinal cord, etc.) require the first stage or stage of neurosurgery**, and neurosurgery has a lot of related cooperation with general (neonatal) surgery, and good results have been achieved. Currarino syndrome is caused by mutations in the MNX1 gene, and the genetic predisposition is very obvious, and there have been cases of three generations of the same disease in the past, and the genetic laboratory of our institute has a high ability in genetic diagnosis and research, and also plays an important role in the diagnosis and genetic counseling of such diseases.
Text |Li Ji, Zhou Ruijie.
Edit |Propaganda Center Hao Jie.
Capital Institute of Pediatrics.
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Affiliated Children's Hospital.
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