Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity

Aggarwal, Mukul; Sood, Vikrant; Deswal, Shivani; Aggarwal, Kailash Chandra

doi:10.1007/s00381-012-1751-7

Cited by 4 publications

(5 citation statements)

References 5 publications

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“…The most prevalent abnormalities affecting the CRS group in these studies were reduced renal function (8%-12%), renal agenesis (13%-20%), and neurogenic bladder (60%) [3].…”

Section: Discussionmentioning

confidence: 82%

Neurogenic Bladder-Induced Stone in a Pelvic Kidney of a Caudal Regression Syndrome Patient: Management of a Complex Case

Alomar¹,

Alghafees²,

Aljurayyad³

et al. 2022

Cureus

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Percutaneous nephrolithotomy (PCNL) is a difficult treatment for treating kidney stones, especially when there are orthopedic or skeletal abnormalities. Here, in a 19-year-old male, we describe a two-step PCNL with a case of caudal regression syndrome (CRS) and a pelvic kidney, with an extremely deformed neurogenic bladder on intermittent catheterization. Our conclusion is that PCNL may be done safely with minimum morbidity in patients with caudal regression syndrome by utilizing adult equipment for heavy stone burdens, allowing full and rapid stone removal.

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“…The most prevalent abnormalities affecting the CRS group in these studies were reduced renal function (8%-12%), renal agenesis (13%-20%), and neurogenic bladder (60%) [3].…”

Section: Discussionmentioning

confidence: 82%

Neurogenic Bladder-Induced Stone in a Pelvic Kidney of a Caudal Regression Syndrome Patient: Management of a Complex Case

Alomar¹,

Alghafees²,

Aljurayyad³

et al. 2022

Cureus

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“…In addition, the ability to perform vertical transfers and to bear weight reduces the physical burden on caregivers. Nevertheless, the will of patients and families must be considered because some patients ultimately prefer to rely on a wheelchair for their daily life 17 . Knee contractures are as limiting for the patient as they are difficult to treat for the orthopaedic surgeon.…”

Section: Discussionmentioning

confidence: 99%

“…The literature on the orthopaedic treatment of patients with SA is scarce and is limited to case reports and small-scale series 3,[10][11][12][13][14][15][16][17] . Given that these patients have preserved intelligence, the ultimate goal should be to achieve the best possible functional outcome with the least morbidity, thereby improving quality of life.…”

Section: Discussionmentioning

confidence: 99%

Allowing Standing and Assisted Steps in a Patient With Renshaw Type IV Sacral Agenesis

Martínez-Caballero

Gabardo

Galán-Olleros

et al. 2023

JBJS Case Connector

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Case: A 6-year-old boy with a Renshaw type 4 sacral agenesis presented paraplegia and rigid, "Buddha-like" lower-limb contractures, including severe knee pterygia, which made crawling and sitting difficult. Staged surgical treatment involved bilateral knee disarticulation, soft tissue surgery, and bifocal femoral osteotomies for lower-limb reorientation. At 18 months postoperatively and after prosthetic fitting, the patient can stand and take steps with assistance. Conclusion:This effective surgical strategy achieves standing in a troublesome orthopaedic congenital condition. The intervention should be tailored to specific orthopaedic disorders and the wishes of patients and families, aiming to improve function. Sacral agenesis (SA) is a rare congenital malformation of the sacrococcygeal bone 1 that encompasses a wide spectrum of malformations of the caudal region of the spine. When associated with gastrointestinal or urogenital malformations it is referred to as caudal regression syndrome (CRS) 2 . Common orthopaedic abnormalities associated with SA are kyphoscoliosis, spinopelvic instability, and, in more severe cases, lower-extremity paraplegia with rigid flexion-abduction hip contractures, knee pterygia, and foot deformities 3 . This rigid, "Buddha-like" lower-limb position causes great functional impairment that not only prevents walking and standing but also inhibits comfortable sitting. If left untreated, as the child grows, wider chairs would be needed to accommodate the position and over time this would impede access through doorways and mobility even at home.The estimated incidence of SA is between 1 and 5 cases per 100,000 births 1 . The main risk factor found is maternal diabetes, which increases the risk of SA 20-fold 1 . Other related risk factors are folic acid deficit 4 , multiple pregnancies, smoking 1 , and retinoic acid intake 5 . A failure of neurulation caused by a vascular deficit in Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/C103).

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“…The Currarino triad or sequence is a related, yet distinct condition and includes anorectal atresia or ectopia, coccygeal and partial sacral agenesis, and a pre-sacral mass lesion such as anterior meningocele, lipoma or dermoid cyst [8,9]. The prevalence of CRS in infants of diabetic mothers is documented at up to 1 in 350 live births and between 20% and 25% of mothers of infants with CDS have insulin-dependent diabetes mellitus [10,11].…”

Section: Discussionmentioning

confidence: 99%

Caudal Regression Syndrome

Kylat

Bader

2020

Children

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Caudal Regression Syndrome (CRS) or Caudal dysgenesis syndrome (CDS) is characterized by maldevelopment of the caudal half of the body with variable involvement of the gastrointestinal, genitourinary, skeletal, and nervous systems. CRS affects 1–3 newborn infants per 100,000 live births. The prevalence in infants of diabetic mothers is reported at 1 in 350 live births which includes all the variants. A related condition is sirenomelia sequence or mermaid syndrome or symmelia and is characterized by fusion of the legs and a variable combination of the other abnormalities. The Currarino triad is a related anomaly that includes anorectal atresia, coccygeal and partial sacral agenesis, and a pre-sacral lesion such as anterior meningocele, lipoma or dermoid cyst. A multidisciplinary management approach is needed that includes rehabilitative services, and patients need a staged surgical approach.

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Caudal regression syndrome with bilateral popliteal webbing without maternal diabetes: a rare entity

Cited by 4 publications

References 5 publications

Neurogenic Bladder-Induced Stone in a Pelvic Kidney of a Caudal Regression Syndrome Patient: Management of a Complex Case

Neurogenic Bladder-Induced Stone in a Pelvic Kidney of a Caudal Regression Syndrome Patient: Management of a Complex Case

Allowing Standing and Assisted Steps in a Patient With Renshaw Type IV Sacral Agenesis

Caudal Regression Syndrome

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