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Imaging Case Book

Type IV lumbosacrococcygeal agenesis infant of diabetic mother

Journal of Perinatology volume 28, pages 163–165 (2008)Cite this article

These studies demonstrate lumbosacrococcygeal agenesis (LSCA). LSCA is a rare condition occurring in less than 0.01% of the general population1 and is characterized by complete sacrococcygeal agenesis, with variable lumbar agenesis.2 LSCA is both a skeletal and a central nervous system malformation. In addition to absence of vertebral skeletal elements, the lowest level of innervation corresponds to the lowest vertebral body which forms.3

Sixteen percent of patients with LSCA are infants of diabetic mothers. However, less than 1% of diabetic mothers give infants with LSCA or other severe osseous malformations. Sacral agenesis was classified by Renshaw into four types. Type I is total or partial unilateral sacral agenesis. This type of hemisacral agenesis is that seen in Currarino triad syndrome.4 The latter is a rare autosomal dominant condition of hemisacral agenesis, presacral mass and anal stenosis. There is no association of Currarino triad syndrome with infants of diabetic mothers. Type II sacral agenesis is total or partial bilateral, symmetric agenesis. This is the most common type of sacral agenesis. Type III is total sacrococcygeal agenesis with variable lumbar agenesis with the last lumbar segment articulating with the ilia. Type IV is total sacrococcygeal agenesis with variable lumbar agenesis with the last formed vertebral segment resting on the fused ilia or on an ilial amphiarthrosis.5 Renshaw's type II with complete sacral absence, type III and type IV correspond to LSCA. The patient in this case presented with sacrococcygeal agenesis and agenesis of L4 and L5, and has type IV LSCA, the rarest variety of LSCA. Type II and III sacral agenesies usually have stable spinopelvic junctions. Type IV often has progressive spinopelvic kyphosis.5 It is associated with the most severe lower limb anomalies. Almost all patients have flexion contractures of the hips, knees, often with popliteal webbing and bilateral club feet. Visceral, particularly urogenital anomalies and neurogenic bladder, musculoskeletal anomalies, particularly of the lower limbs, and central nervous system anomalies, such as syrinx, tethered cord and lipoma/lipomeningocele, occur in patients with LSCA. A long term survivor to the age of 32 years has been reported in a patient with LSCA in whom vertebral agenesis began above T12.6 The prognosis of LSCA depends upon the stability of the spinopelvic junction, neurologic deficiency and lower limb function. Ambulation is possible especially for Renshaw types II and III if there is a stable spinopelvic junction and adequate lower limb musculature. Ambulation is rare for those with type IV.5

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  1. Department of Radiology, St Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Type IV lumbosacrococcygeal agenesis infant of diabetic mother. J Perinatol 28, 163–165 (2008). https://doi.org/10.1038/sj.jp.7211892

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