Segmental Spinal Dysgenesis

Scott, R. Michael; Wolpert, S M; Bartoshesky, Louis; Zimbler, Seymour; Karlin, Lawrence I.

doi:10.1227/00006123-198804000-00021

Cited by 54 publications

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“…In humans, segmental hypoplasia of the spinal cord is associated with segmental spinal dysgenesis, which is often accompanied by focal vertebral malformations including narrowing of the spinal canal. In this case, the spinal cord at the level of the abnormality was thinned or, in some regions, indiscernible, and a bulky, low-lying cord segment was present caudal to the focal abnormality [12,13]. While a segmental hypoplasia of the spinal cord has been reported to be accompanied by spina bifida occulta and hypoplasia of the vertebral body, but not by the narrowing of the vertebral canal, the case also exhibited meningocele, hydrocephalus, hypoplasia of the corpus callosum and Chiari I malformation [2].…”

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confidence: 81%

Segmental Hypoplasia of the Spinal Cord in a Japanese Black Calf

Imai

Moritomo

2009

The Journal of Veterinary Medical Science

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ABSTRACT. Segmental hypoplasia not associated with vertebral abnormalities was found in a Japanese Black calf that was unable to stand. Constriction occurred between the third and 5th segments of the lumbar spinal cord, and was most severe in the 4th segment. Myelodysplasia, such as hydromyelia and syringomyelia, absence or interruption of the central canal, dysplasia of the gray matter, and absence or divergence of the septal connective tissue at the dorsal median septum or the ventral median fissure, were confirmed histologically. These changes indicate hypoplasia of the segments affected following neural tube closure. Therefore, this case was suspected to be a closed neural tube defect. KEY WORDS: Japanese Black calf, myelodysplasia, segmental hypoplasia of the spinal cord.J. Vet. Med. Sci. 71(3): 337-340, 2009 Congenital abnormalities of the spinal cord have been described collectively as myelodysplasia or dysraphic states [7,10]. In cattle, the occurrence of spina bifida, a spinal neural tube closure defect, is common [8]. Hypoplasia of the spinal cord is defined as a reduced development of one or more segments of the spinal cord [10]. In cattle, this hypoplasia has been reported in Angus and other breeds [7,8]. Although these reports described only the brief clinical signs of the affected animal [8], abnormalities in appearance, pathological changes and other details of the animals were not reported. Constriction or absence of the spinal cord have always been associated with vertebral abnormalities such as segmental aplasia of the spinal cord [4,9], perosomus elumbis [6] and spinal stenosis [3].In this study, we describe a rare anomaly of the spinal cord, namely, segmental hypoplasia of the spinal cord in a calf that was not associated with vertebral abnormalities. The morphological changes of the malformed spinal cord were examined, and their pathogenesis was discussed from an embryological viewpoint. The subject was a male Japanese Black calf that was unable to stand after birth. His left forelimb and right hindlimb were not flexible and exhibited only mild convulsion. In general appearance, spinal defects could not be confirmed. Although the calf was born 2 weeks before the expected delivery date, the general conditions, such as vigor and appetite, were fine. The calf was euthanized after one month according to the request of the owner of the animal, and a postmortem examination was performed. The weight of the calf before the necropsy was 42 kg, indicating a reduced growth compared to normal calves. It was the first delivery of the cow, which went through a normal pregnancy and did not receive the administration of any drugs. No similar cases have been reported from the maternal or paternal line of the calf.The necropsy confirmed a constriction between the third (L3) and fifth (L5) segments of the lumbar spinal cord, with the constriction in the fourth segment (L4) being the most severe (diameter: approx. 6 mm) (Fig. 1). Despite a mild dorsal curvature of the spine, no spinal canal narrowing or abno...

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Segmental Hypoplasia of the Spinal Cord in a Japanese Black Calf

Imai

Moritomo

2009

The Journal of Veterinary Medical Science

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“…SSD is a rare congenital spinal anomaly characterized by localized agenesis or dysgenesis of the lumbar, thoracolumbar or rarely the lumbosacral spine, severe kyphosis or kyphoscoliosis and focal abnormalities of the underlying spinal cord and nerve roots [1, 2, 4, 5, 6]. The malformation is typically segmental.…”

Section: Discussionmentioning

confidence: 99%

“…Association of an open spinal dysraphism with SSD has not been reported in the literature [1]. Hohl first reported spinal agenesis in 1852 and subsequently many cases have been published [2]. …”

Section: Discussionmentioning

confidence: 99%

“…Clinically, the patient with SSD presents with varying degrees of motor weakness, and often, affected newborns are paraplegic [1, 2]. The neurologic deficit depends not only on the hypoplastic cord, but also on the functioning residual spinal cord.…”

Section: Discussionmentioning

confidence: 99%

“…Spinal cord tethering is also commonly associated with spinal agenesis involving the dorsal or dorsolumbar region. Neurological deficits are not commonly associated with isolated segmental bony anomalies whilst fixed neurological deficits are more common in spinal dysgenesis occurring concomitantly with segmental bony anomaly [2, 3]. Thoracic spinal agenesis or dysgenesis is a very rare anomaly and only a few cases are reported in the lierature [2, 3].…”

Section: Introductionmentioning

confidence: 99%

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Congenital Thoracic Cord Segmental Amyelia: A Rare Manifestation of Segmental Spinal Dysgenesis

Desai¹,

Nadkarni²,

Bhayani³

et al. 2003

Pediatr Neurosurg

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Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. We report a case of a 4-year-old female child who was born prematurely with a permanent neurological deficit in the lower limbs and sphincter incontinence. Radiological investigations revealed segmental agenesis of the thoracic spinal cord (D8–D11 vertebral levels) with an associated vertebral bony anomaly. The pathogenesis of this rare form of SSD syndrome is discussed and the relevant literature is briefly reviewed.

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Prenatal diagnosis of segmental spinal dysgenesis

et al. 2007

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A 20-year-old woman (gravida 1, para 0) was referred at 22 weeks and 3 days of gestation with bilateral talipes and a suspected spinal abnormality. The nuchal translucency assessed at 12 weeks and 3 days was 2.3 mm with a CRL (crown-rump length) of 59.8 mm giving an adjusted risk for Down syndrome of 1 : 825. The patient had an uneventful medical history, and no history of abdominal trauma was elicited. We performed a detailed 2D-3D ultrasound examination of the fetal anatomy. This confirmed the finding of bilateral talipes, and reduced movements across the knee joint on both sides were observed. In addition, complete disjunction of the thoracic and lumbar spine at the L1 and L2 level was seen (Figure 1(a)). There was no spina bifida or hemivertebra nor any evidence of Arnold Chiari malformation or further associated structural abnormalities.In view of the findings suggestive of neurological damage below the level of the spinal lesion, the parents opted for a termination of pregnancy. Cytogenetic analysis of cells obtained from the fetal blood at the time of the fetocide showed normal 46,XX karyotype. Postmortem fetal X-ray and (magnetic resonance imaging (MRI) scan were performed prior to pathological examination, in order to better define the spinal abnormality and to inform of the risk of recurrence of the abnormality in future pregnancies. X-ray showed a complete disjunction of thoracic and lumbar spines with severe kyphosis and gibbus apex marking the level of the lesion (Figure 1(b)). The L1 and L2 spinous process were hypoplastic and a vestigial L1 body was fused to T12, while the L2 body was agenetic. The lower three lumbar and the sacrococcygeal vertebrae were present. Postmortem MRI confirmed the configuration of the spine as shown on the plain films (Figure 1(c)). Furthermore, it showed overlap of the unossified spinal segments and an abnormally thin spinal cord at the level of the lesion, while there was evidence of a thickened lower cord caudally, features typical of segmental spinal dysgenesis (SSD) (Tortori-Donati et al., 1999). Postmortem pathological examination of the fetus showed bilateral talipes deformities in the lower limbs and segmental spinal dysgenesis affecting the upper lumbar spine. There was replacement of the L1 and L2 vertebral bodies with irregular masses of largely unossified cartilage, and abnormal angulation of the spine in the affected area was seen.We report here the first case of prenatally diagnosed SSD. This is a rare condition characterized by localized deformity of the thoracolumbar, lumbar, or lumbosacral spine associated with abnormal development of the underlying spinal cord and nerve roots (Scott et al., 1988).Postnatally, the diagnostic gold standard is MRI as it allows evaluation of both the vertebral abnormality and the spinal cord lesion. The neuroradiologic picture is variable according to the extent and level of the abnormality, the degree of resulting kyphosis, and the presence of associated abnormalities. The typical neuroradiologic picture has been described...

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Segmental Spinal Dysgenesis

Cited by 54 publications

References 0 publications

Segmental Hypoplasia of the Spinal Cord in a Japanese Black Calf

Segmental Hypoplasia of the Spinal Cord in a Japanese Black Calf

Congenital Thoracic Cord Segmental Amyelia: A Rare Manifestation of Segmental Spinal Dysgenesis

Prenatal diagnosis of segmental spinal dysgenesis

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