Spinal dysraphism: genetic relation to neural tube malformations.

Abstract

Summary. The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformations-spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column.Of 364 sibs of index patients, 9 had anencephaly and 6 spina bifida cystica, a proproportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly.It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations.

Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele

“…3 However, there is evidence that at least some of the underlying etiologic factors are common to both open and closed NTDs. We and others have previously reported families in which closed and open NTDs occur [12][13][14] ; such families suggest an underlying gene(s) with pleiotropic effects. To investigate this hypothesis, we estimated the recurrence risk to siblings of a proband with lipomyelomeningocele and hypothesized that it would not be different than the recurrence risk to siblings of a proband with an open neural tube defect.…”

Lateral tethering intraspinal lipoma with scoliosis

“…As the spinal cord tethering can be caused by various pathologies and at any level and side of the spine, the term ''tethered cord'' has broadened to include cord tethering from many different etiological conditions in the literature [3,5]. Many theories were suggested to explain the pathophysiology of the clinical syndrome of the tethered cord but recently the most wide excepted biochemical phenomenon underlying cord traction is ''traction-induced hypoxia'' and neuronal membrane stretch with ''loss of transmembrane ion homeostasis and electrical activity depression'' [25,29].…”

“…In filum terminale tethering cases, resection of the filum terminale in symptomatic patients is simple and efficient modality of treatment [25]. Tethered cord associated with caudal lipoma, lipomyelomeningocele and sacral myelomeningoceles is similar to that with tethered spinal cord [5,12,31]. Dorsal and transitional lipomas or lipomyelomeningoceles and all the myelomeningoceles require meticulous and clean dissection for cord untethering and correction of the abovementioned pathological conditions around the dorsal cord [31].…”

Comparative prenatal development of the spinal cord in normal and dysraphic dogs

“…1977) and man (Till, 1969;James and Lassman, 1972;Carter et al,, 1976), Sensenig (1951) observed com plete detachment between dura mater and periosteum in human fetuses of 80.0 mm crown-rump length» Therefore, the failure of separation of these layers as identified in eight of the dysraphic canine fetuses (96.5 mm crown-rump length) was considered pathologic. The lesions were generally confined to the dorsolateral surfaces of the spinal cord in the lumbo sacral region.…”

“…In a genetic study of human dysraphic patients. Carter et al (1976) (Till, 1969;James and Lassman, 1972). Although not a lesion comprising nervous tissue, the consistent finding of a fibrous attachment of the conus medullaris to the vertebrae in cases of NSD was acknowledged by Till (1969) and James and Lassman (1972) .…”