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Lipomyelomeningocele


Presentation

  • The present study aimed to identify prognostic factors for continence and need for CIC in LMM. STUDY DESIGN: The present study retrospectively identified 143 patients from the multidisciplinary clinic who underwent TCR for LMM between 1995 and 2010.[ncbi.nlm.nih.gov]
  • Lipomyelomeningocele (LMM) as a cause of tethered cord syndrome (TCS) commonly presents in childhood in the lumbosacral spine.[ncbi.nlm.nih.gov]
  • We present a father and son with remarkably similar presentations of lipomyelomeningocele.[ncbi.nlm.nih.gov]
  • One such complex case is presented along with a review of the relevant literature. The current pathophysiological theories and surgical management are discussed.[ncbi.nlm.nih.gov]
  • The authors present the case of a 3-month-old girl who presented with lipomyelomeningocele (LMM) associated with a low-lying conus and a terminal syrinx.[ncbi.nlm.nih.gov]
Asymptomatic
  • Of these patients 3 (27%) presented with late urodynamic score deterioration at 3, 5 and 6 years of followup while remaining asymptomatic.[ncbi.nlm.nih.gov]
  • Symptomatic and asymptomatic patients did not experience significantly different rates of deterioration after surgical untethering.[ncbi.nlm.nih.gov]
  • DISCUSSION: In this series of primary TCR for LMM, where 93% of patients were urologically asymptomatic before TCR, prospects for continence were excellent.[ncbi.nlm.nih.gov]
  • The LSA measurements were statistically greater (p 0.05) in the symptomatic patient population than in age-matched control patients and asymptomatic patients.[ncbi.nlm.nih.gov]
  • We report an exceptional case of 14-year-old, asymptomatic and neurologically intact girl with duplication of the spine and marked separation of bony elements at thoraco-lumbar region.[ncbi.nlm.nih.gov]
Soft Tissue Swelling
  • More than 90% of patients will also have a soft tissue swelling over the spine, these lesions are covered by skin and not usually painful.[lexilouandus.blogspot.com]
  • Symptoms More than 90 percent of patients will have an obvious soft tissue swelling over the spine in the lower back. These lesions are covered by skin and are not painful.[neurosurgery.ucla.edu]
Gangrene
  • An emergent laparotomy was performed and revealed diffuse gangrenous change of both small and large bowels. A jejunostomy was done and strong antibiotics were given, but the baby died two days after the operation.[ncbi.nlm.nih.gov]
Multiple Congenital Anomalies
  • A case of a patient with an anterolateral lumbar lipomyelomeningocele associated with multiple congenital anomalies, including defects in the abdominal wall and urogenital system, is presented.[ncbi.nlm.nih.gov]
Gaucher Disease
  • Newton, MA 02460-2250 1,3 LIMB-GIRDLE MUSCULAR DYSTROPHY See: Muscular Dystrophy LIMIT DEXTRINOSIS See: Glycogen Storage Diseases; Muscular Dystrophy LIPID HISTIOCYTOSIS See: Niemann-Pick Disease LIPIDOSIS, CEREBROSIDE See: Gaucher Disease LIPOFUSCINOSES[medical-dictionary.thefreedictionary.com]
Abdominal Distension
  • The clinical presentations were bloody stool and abdominal distension. A plain abdominal film demonstrated pneumatosis intestinalis and air in the portal vein.[ncbi.nlm.nih.gov]
Abdominal Mass
  • The lipomyelomeningocele presented as an expanding abdominal mass. Ventriculoatrial shunting and two operations to repair the myelomeningocele were performed to control the expanding abdominal mass.[ncbi.nlm.nih.gov]
Cutaneous Manifestation
  • Patients frequently present with cutaneous manifestations, progressive neurological deterioration, bladder dysfunction, and intractable pain. Early surgical intervention with untethering is recommended for symptomatic patients.[ncbi.nlm.nih.gov]
  • Cutaneous manifestations and associated malformations were common. Surgical repair was performed at ages 1 week to 17 years; there was no operative mortality.[ncbi.nlm.nih.gov]
  • Lipomeningomyelocele (LipoMMC) or subcutaneous lipoma was the commonest cutaneous manifestation present in 83 (56) patients [ Table 2 ].[ncbi.nlm.nih.gov]
Subcutaneous Mass
  • The scan indicated an echoic semisolid subcutaneous mass covered by skin, posterior to the lumbosacral spinal canal of the fetus.[ncbi.nlm.nih.gov]
  • RESULTS The scan indicated an echoic semisolid subcutaneous mass covered by skin, posterior to the lumbosacral spinal canal of the fetus. Based… CONTINUE READING[semanticscholar.org]
Skin Lesion
  • It is important to recognize at an early stage the defect underlying skin lesions and its associated anomalies, rather than to be concerned about cosmetic factors. Early surgical repair before the appearance of neurological deficits is recommended.[ncbi.nlm.nih.gov]
Erythema
  • A remarkable finding at the neonate’s initial physical examination was a 3 4-cm midline sacral swelling, which was soft, had overlying blotchy erythema, and did not blanch with pressure ( A and B ).[consultant360.com]
Suggestibility
  • Rare cases of siblings affected with lipomyelomeningocele have suggested the possibility of autosomal recessive or germline mosaicism.[ncbi.nlm.nih.gov]
  • We and others have previously observed families in which multiple members were affected with a broad spectrum of NTDs, suggesting the possibility of a common genetic etiology.[ncbi.nlm.nih.gov]
  • Our analysis suggests that surgery on patients with intact function offers greater long-term protection of critical function than is offered by conservative management and expectant care.[ncbi.nlm.nih.gov]
  • However, the findings suggest possible patterns of occurrence. Additional studies involving larger numbers of cases are recommended.[ncbi.nlm.nih.gov]
Urinary Retention
  • RESULTS: After surgery a temporary neurological deterioration was found in two patients including slight weakness of a leg in one patient and urinary retention in the other, but it recovered completely a few days later.[ncbi.nlm.nih.gov]
Lower Motor Neurone Lesion
  • One child had a lower motor neuron lesion, and 5 had a mixed upper and lower motor neuron lesion.[ncbi.nlm.nih.gov]
Limb Weakness
  • Out of these nine patients, three patients with lower limb weakness associated with urinary and fecal incontinence showed improvement in both motor and bladder/bowel functions and regained bladder/bowel control.[ncbi.nlm.nih.gov]

Workup

  • Neuroimaging Magnetic resonance imaging (MRI) evaluation was carried out as part of diagnostic workup in all patients. Low lying tethered cord was present in all the patients.[ncbi.nlm.nih.gov]

Treatment

  • Spine-shortening osteotomy might be a feasible mode of treatment for adult TCS caused by a spinal lipoma.[ncbi.nlm.nih.gov]
  • BACKGROUND: Timing of surgical treatment for tethered cord syndrome due to a lipomyelomeningocele (LMM) has been controversial.[ncbi.nlm.nih.gov]
  • Simple cosmetic treatment does not prevent neurologic difficulties and may make later, more complete treatment difficult.[neurosurgery.ucla.edu]
  • Simple cosmetic treatment of the subcutaneous fat pad does NOT prevent Neurological deficit, and may make later definitive treatment more difficult.[lexilouandus.blogspot.com]
  • , and treatment strategies for traumatic brain injury in soldiers.[books.google.com]

Prognosis

  • Prognosis for the infant with this skin-covered lesion is very good if appropriate care is provided early.[ncbi.nlm.nih.gov]
  • The early diagnosis and the operative treatment may improve the outcome and the prognosis for the patient. Keywords lipomyelomeningocele; tethered cord effect; operative technique; results[thieme-connect.com]
  • This case illustrates the favorable prognosis of this entity and the importance of prompt diagnosis and multidisciplinary counseling 6). References[operativeneurosurgery.com]
  • Prognosis and treatment in 73 cases. J Neurosurg. 1986; 65 :756–61. [ PubMed ] [ Google Scholar ] 18. Kasliwal MK, Mahapatra AK. Surgery for spinal cord lipomas. Indian J Pediatr. 2007; 74 :357–62. [ PubMed ] [ Google Scholar ] 19.[ncbi.nlm.nih.gov]

Etiology

  • Although a genetic component has been well established in the etiology of open NTDs, studies examining the genetics of closed NTDs such as lipomyelomeningocele are rare.[ncbi.nlm.nih.gov]
  • Despite significant neurologic consequences, the underlying etiology remains poorly understood. We present a father and son with remarkably similar presentations of lipomyelomeningocele.[ncbi.nlm.nih.gov]
  • Open NTDs have a complex etiology, involving both genetic and environmental factors.[nature.com]
  • This can be caused by a variety of etiologies: myelomeningocele, lipomyelomeningocele, diastematomyelia, tight filum terminale, dermal sinus tract, tumor, and scar tissue.[medical-dictionary.thefreedictionary.com]

Epidemiology

  • BACKGROUND: The epidemiology of neural tube defects (NTDs) may depend on the type of the defect and its location. There is little epidemiologic information on lipomyelomeningocele, a type of NTD.[ncbi.nlm.nih.gov]
  • This finding provides epidemiological evidence that the embryogenesis of LMM is fundamentally different from that of myelomeningocele.[ncbi.nlm.nih.gov]
  • Descriptive epidemiology of lipomyelomeningocele, Hawaii, 1986-2001. Birth Defects Res A Clin Mol Teratol. 2004; 70 :953–6. [ PubMed ] [ Google Scholar ] 5. Frey L, Hauser WA. Epidemiology of neural tube defects.[ncbi.nlm.nih.gov]
  • Epidemiology and control of neural tube defects . Oxford, UK: Oxford University Press ; 1992. 12. George TM , Wolpert CM , Worley G , Mackey JF , Fuchs HE , Speer MC . Variable presentation of Neural Tube Defects in Three Families .[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • The current pathophysiological theories and surgical management are discussed.[ncbi.nlm.nih.gov]
  • Pathophysiologically, neuronal dysfunction in tethered cord syndrome results partly from inability for the spinal cord neurons to utilize oxygen, that is, the impaired oxidative metabolism, partly due to lack of oxygen supply (ischemic effect), and partly[rarediseases.org]
  • Pathophysiology of “tethered cord syndrome” J Neurosurg. 1981; 54 :494–503. [ PubMed ] [ Google Scholar ] 11. Kanev PM, Lemire RJ, Loeser JD, Berger MS. Management and long-term follow-up review of children with lipomyelomeningocele, 1952-1987.[ncbi.nlm.nih.gov]

Prevention

  • This new surgical procedure can maintain a CSF bath around the lumbosacral cord, thus preventing dural adhesion.[ncbi.nlm.nih.gov]
  • Untethering does not usually result in permanent acute morbidity, and does not prevent longer-term functional deterioration.[ncbi.nlm.nih.gov]
  • To date, no type of graft material has been shown to entirely prevent this problem. Close long-term surveillance of such patients is required to allow detection and treatment of symptomatic retethering.[ncbi.nlm.nih.gov]
  • Early intervention is recommended even in cases with normal neurological examinations in order to prevent deterioration but our patient with cervical lipomyelomeningocele had a normal neurological examination despite his age (22 year-old) and had no urodynamic[ncbi.nlm.nih.gov]
  • In each case, the monitoring prevented resection of viable neural tissue, and all six patients were neurologically unchanged postoperatively.[ncbi.nlm.nih.gov]

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