case_images: PMC11676024_01
case_images: Clinical and radiological images of the child. (a) Thoracolumbar junction gibbus (black arrow), hypoplasia of gluteal muscles, and absent natal cleft (circled). (b) Barrel-shaped chest. (c) Fixed flexion deformity of the knee joints. (d) Sagittal MRI showing the thoracolumbar junction kyphosis (red arrow). (e) CT scan (sagittal reconstruction) demonstrating the absence of T11 to L3 vertebral bodies (white circle)
case_images: JWACS-15-118-g001.jpg
case_images: PMC11676024_01_JWACS-15-118-g001.jpg
case_images: JWACS_186_23-f001
case_images: However, he presented 4 years later with progressive kyphosis, a barrel-shaped chest, and fixed flexion deformity of the knee joints [Figure 1a and b]. Lumbosacral spine magnetic resonance imaging (MRI) revealed kyphosis at the thoracolumbar junction, absent T12-L3 vertebrae with retrolisthesis of T11 on L4, and obliteration of the spinal canal at the corresponding level [Figure 1d]. Spine computerised tomography (CT) scan confirmed the vertebral bony anomalies [Figure 1e].
case_images: PMC11676024_02
case_images: Clinicoradiological images of the patient. (a) Thoracolumbar junction gibbus and pigmentary changes of overlying skin (circled). (b) CT scan (sagittal reconstruction) showing the absence of L1 to L3 vertebral bodies (red arrow). (c) Coronal CT scan (3D reconstruction) showing shortening of the lumbar spinal segment (rectangle). (d) Sagittal MRI showing thoracolumbar junction kyphotic deformity and spinal cord compression (white arrow). Low-lying conus medullaris (red arrow)
case_images: JWACS-15-118-g002.jpg
case_images: PMC11676024_02_JWACS-15-118-g002.jpg
case_images: JWACS_186_23-f002
case_images: She had a gibbus at the thoracolumbar junction and hyperpigmentation of the overlying skin [Figure 2a]. T12 to L3 [Figures 2b and 2c]. The conus medullaris was low-lying, terminating at the sacral level [Figure 2d]. This patient was thus diagnosed with lumbar segmental agenesis.
case_images: PMC11676024_03
case_images: Clinical pictures and neuroimaging of the patient. (a) Rocker bottom foot. (b) Dorsal view of the patient showing gluteal hypoplasia and a rudimentary natal cleft (circled). (c) Sagittal MRI showing sacral dysgenesis (red circle). The spinal cord terminates at the lower border of L1 (red arrow)
case_images: JWACS-15-118-g003.jpg
case_images: PMC11676024_03_JWACS-15-118-g003.jpg
case_images: JWACS_186_23-f003
case_images: Examination revealed hypotonia of the lower limbs, a lax anal sphincter, and bilateral rocker bottom feet [Figure 3a]. She had a flattening of the gluteal curvature and a rudimentary natal cleft [Figure 3b]. Lumbosacral spine MRI revealed features consistent with sacral dysgenesis [Figure 3c].
case_images: PMC11676024_04
case_images: Radiological images of the patient. X-rays of the patient showing (a) loss of normal lumbar lordosis and (a/b) sacral dysgenesis (red circle). (c) Sagittal MRI of the patient illustrating the bulbous termination of the spinal cord at T11 (arrow), absent posterior elements of the T10-T12 vertebrae (rectangle), and sacral dysgenesis (white circle)
case_images: JWACS-15-118-g004.jpg
case_images: PMC11676024_04_JWACS-15-118-g004.jpg
case_images: JWACS_186_23-f004
case_images: X-rays and MRI revealed the concurrence of a non-contiguous thoracic and sacral spinal dysgenesis [Figure 4].
case_images: PMC11676024_05
case_images: Clinical, radiological, and intraoperative images of the patient. (a) Clinical picture showing a midline lumbosacral mass (black arrow). (b) MRI showing the subcutaneous fatty tissue (red arrow) and its intracanalicular extension (white arrows). The spinal cord is low-lying and tethered to this mass (blue arrow). (c) Intraoperative photograph depicting the subcutaneous fatty mass (circled). (d) Extension into the spinal canal (black arrows). (e): Dural defect after excision of the fatty tissue (top surgical instrument). (f) Duroplasty (white arrow)
case_images: JWACS-15-118-g005.jpg
case_images: PMC11676024_05_JWACS-15-118-g005.jpg
case_images: JWACS_186_23-f005
case_images: Examination revealed a flaccid monoparesis of the left lower limb, a sensory level of L5 (residual to S1) and a firm midline lumbosacral mass [Figure 5a]. L3). Lumbosacral spine MRI revealed features of a lipomyelomeningocele (LMMC) [Figure 5b]. She subsequently had L1 to L3 laminectomies with resection of the fatty tissue and duroplasty [Figures 5c-f].
case_images: PMC11676024_06
case_images: Clinical photograph of a 13-year-old female child with a spina bifida occulta. A skin appendage (human tail; black arrow) and a midline sacral dimple (white arrow) are depicted in this image. These are cutaneous stigmata of a spinal dysraphism
case_images: JWACS-15-118-g006.jpg
case_images: PMC11676024_06_JWACS-15-118-g006.jpg
case_images: JWACS_186_23-f006
case_images: Examination revealed a flaccid L3 paraparesis, bilateral CTEV, and a firm sacral appendage measuring 2.5 cm in length [Figure 6].
case_images: PMC11676024_07
case_images: Clinical images of 3-day-old male neonate with spina bifida cystica (membranous sacral meningocele). [(a) and (b)] Midline sacral diaphanous membrane (without a neural placode; black arrow) protruding from the centre of a smaller skin-covered sac (red arrow). (c) Remnant of the membrane after spontaneous rupture (white arrow). (d) Sagittal T2 weighted image of the patient showing the cystic sacral lesion (red arrow), and low-lying spinal cord confined to the spinal canal (white arrow)
case_images: JWACS-15-118-g007.jpg
case_images: PMC11676024_07_JWACS-15-118-g007.jpg
case_images: JWACS_186_23-f007
case_images: There was a large cystic sacral mass covered with a thin diaphanous membrane [Figure 7a and b]. The membrane involuted spontaneously after 2 weeks (following a rupture) to reveal a 2.5 cm x 2.5 cm x 1 cm firm sacral mass [Figure 7c]. Neuroimaging done 4 weeks later confirmed a meningocele [Figure 7d].
case_images: PMC11676024_08
case_images: Clinical images of a day-old neonate with MSS. (a/b) Tetrapolydactyly (b) Clinodactyly of the left fifth finger (red arrow). (c) Flattened, completely exposed segment of the spine (black arrow)
case_images: JWACS-15-118-g008.jpg
case_images: PMC11676024_08_JWACS-15-118-g008.jpg
case_images: JWACS_186_23-f008
case_images: Upon examination, the infant displayed clinical features including a high-grade fever, flaccid paraplegia, gluteal hypoplasia, a patulous anus, absent natal cleft, and post-axial polydactyly affecting both the hands and feet, accompanied by clinodactyly of the left fifth finger [Figure 8]. The neonate exhibited a lumbosacral mass, exposing a flattened spine at its central portion [Figure 8].