ABSTRACT
El gen TSC2, responsable de la esclerosis tuberosa, se encuentra en el cromosoma 16p13.3, adyacente al gen de la poliquistosis renal autosómica dominante PKD1. Una deleción de gran tamaño puede afectar a ambos genes produciendo el llamado «síndrome de deleción de genes contiguos TSC2/PKD1» (MIM#600273). Se caracteriza por la presencia de quistes renales congénitos o de aparición muy precoz, en pacientes con esclerosis tuberosa, e implica un peor pronóstico de la enfermedad renal. Presentamos el caso de un niño de 6 años con esclerosis tuberosa, que en el período neonatal presentaba múltiples quistes renales de gran tamaño y bilaterales, realizándose posteriormente un estudio de confirmación genética mediante la técnica MLPA (AU)
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique (AU)
Subject(s)
Humans , Male , Child , 22q11 Deletion Syndrome/epidemiology , 22q11 Deletion Syndrome/genetics , Tuberous Sclerosis/complications , Tuberous Sclerosis/diagnosis , Tuberous Sclerosis/genetics , Cysts/complications , Cysts/diagnosis , Cysts/genetics , Tuberous Sclerosis/physiopathology , Abdomen/pathology , Abdomen , Hypertension/complications , Angiofibroma/complications , Angiofibroma/diagnosisABSTRACT
The TSC2 gene responsible for Tuberous Sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. A large deletion can involve both genes, causing the so-called TSC2/PKD1 contiguous gene syndrome (MIM#600273). It is characterized by congenital renal cysts, or their early onset in patients with tuberous sclerosis, and implies a worst prognosis in renal disease. We report the case of a five year-old boy with tuberous sclerosis, who presented with multiple large bilateral renal cysts in the neonatal period. A genetic confirmation study was later performed using the multiple ligation probe amplification (MLPA) technique.
Subject(s)
Gene Deletion , Polycystic Kidney, Autosomal Recessive/genetics , TRPP Cation Channels/genetics , Tuberous Sclerosis/genetics , Tumor Suppressor Proteins/genetics , Child , Humans , Male , Syndrome , Tuberous Sclerosis Complex 2 ProteinABSTRACT
BACKGROUND: Spinal cord rethetering can occur after the primary surgical repair of myelomeningoceles (MMC) and lipomeningoceles (LMC) and produce devastating physical and psychological consequences. The inadvertent introduction of skin elements at the time of the initial surgery can lead to the growth of intraspinal epidermoid or dermoid cysts. OBJECTIVES: To review the incidence of spinal cord tethering following surgery for open and occult spinal dysraphism and to analyze factors that might influence the appearance of this complication. We also aimed to search technical measures at the time of the primary operation that might prevent the occurrence of symptomatic cord retethering. MATERIAL AND METHODS: We reviewed the medical records of patients submitted to surgical repair of MMC (n=162) or occult spinal dysraphism (n= 54) during the period 1975-2005 who developed symptomatic tethered cord syndrome. RESULTS: Eleven of 162 (6.79%) patients with MMC and 2 of 54 (3.7%) with LMC developed clinical symptoms and signs of spinal cord tethering after intervals ranging from 2 to 37 years after the initial surgical repair of their back lesions. Indications for surgical re-exploration were based mainly on clinical grounds. Postoperative fibrosis was a constant finding in all instances. Other surgical findings included inclusion tumors of cutaneous origin (n=3), lumbar canal stenosis (n= 2), foreign body reactions (n= 2), residual lipoma (n= 1), and a tight hyalinized filum (n=1). Interestingly, 3 of 162 (or 1.85%) myelomeningoceles were found to harbor an intradural epidermoid tumor at the time of spinal cord dethetering, accounting for an incidence of cutaneous inclusion tumors of 27% in cases of post- MMC repair tethering. After a mean follow-up time of 5.5 years, eight patients were improved, two were unchanged and one was worsened. CONCLUSIONS: Neurological deterioration is not a necessary consequence of the natural history of patients with MMC or LMC. Early or late clinical deterioration can be due to spinal cord re-tethering and deserves timely investigation and surgical exploration. Results of surgical intervention were rewarding as 92% of the patients showed improvement or stabilization in their otherwise deteriorating condition. We also report two infrequent causes of spinal cord deterioration: lumbar canal stenosis and intense foreign-body reactions to implanted materials.
Subject(s)
Meningomyelocele/surgery , Reoperation , Spinal Cord/surgery , Spinal Dysraphism/surgery , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Lumbosacral Region , Magnetic Resonance Imaging , Male , Meningomyelocele/epidemiology , Neurosurgical Procedures , Postoperative Complications , Retrospective StudiesABSTRACT
Antecedentes. La médula espinal puede fijarse tras la reparación inicial en pacientes operados demielomeningocele (MMC) y lipomeningocele (LMC), produciendo graves lesiones físicas y psicológicas. Asimismo, la introducción accidental de restos cutáneos durante la reparación de estas lesiones puede dar lugar al desarrollo de tumores intraespinales de estirpe cutánea. Objetivos. Averiguar la incidencia del anclaje medular tras la cirugía de MMC y LMC y analizar los factores que puedan explicar su aparición. También, investigamos las maniobras técnicas durante la operación primaria susceptibles de evitar la aparición del síndrome de médula fijada. Pacientes y métodos. Revisión retrospectiva de las historias de los pacientes operados de MMC (n=162) y de espina bífida oculta (n=54) en el período 1975-2005 que desarrollaron cuadros de anclaje medular sintomático. Resultados. Once pacientes con MMC (6,79%) y dos con LMC (3,7%) presentaron manifestaciones de anclaje medular tras intervalos de 2 a 37 años después de la reparación primaria. Las indicaciones de reintervención se basaron fundamentalmente en criterios clínicos. Un hallazgo constante fue la fibrosiscicatricial que estuvo presente en todos los casos. Otros hallazgos operatorios causantes de la fijación medular consistieron en tumores cutáneos de inclusión (n=3),reacciones de cuerpo extraño (n=2), estenosis del canal lumbar (n=2), restos de lipoma (n=1), y filumhialinizado (n=1). En 3 casos de MMC se encontróademás un quiste epidermoide intradural (1,85% delos MMC), lo que supone una tasa de epidermoides en la reintervención de MMC de 27%. El periodo medio de seguimiento fue de 5,5 años y los resultados fueron: mejoría en 8, dos no experimentaron cambios, y uno sufrió empeoramiento. Conclusiones. El deterioro neurológico de los pacientes operados de MMC o LMC no constituye una consecuencia obligada o parte de la historia natural de estos procesos. El deterioro, precoz o tardío, puede estar motivado por el anclaje posquirúrgico de la médula espinal. Ello hace necesario realizar un seguimiento periódico de estos pacientes, acompañado de los oportunos estudios de neuroimagen y, en su caso, de exploración quirúrgica. Los resultados fueron satisfactorios, ya que el 92% de los pacientes reoperados experimentaron mejoría o estabilización de su enfermedad. Se describen además dos causas infrecuentemente descritas de deterioro tardío: la estenosis del canal y las reacciones fibrosas de cuerpo extraño a materiales implantados
Background. Spinal cord rethetering can occur after the primary surgical repair of myelomeningoceles (MMC) and lipomeningoceles (LMC) and produced evastating physical and psychological consequences.The inadvertent introduction of skin elements at the time of the initial surgery can lead to the growth of intraspinal epidermoid or dermoid cysts. Objectives. To review the incidence of spinal cord tethering following surgery for open and occult spinaldys raphism and to analyze factors that might influence the appearance of this complication. We also aimed to search technical measures at the time of the primary operation that might prevent the occurrence of symptomatic cord retethering. Material and methods. We reviewed the medical records of patients submitted to surgical repair of MMC (n=162) or occult spinal dysraphism (n= 54) during the period 1975-2005 who developed symptomatic tethered cord syndrome. Results. Eleven of 162 (6.79%) patients with MMCand 2 of 54 (3.7%) with LMC developed clinical symptoms and signs of spinal cord tethering after intervals ranging from 2 to 37 years after the initial surgical repair of their back lesions. Indications for surgical re-exploration were based mainly on clinical grounds. Postoperative fibrosis was a constant finding in all instances. Other surgical findings included inclusion tumors of cutaneous origin (n=3), lumbar canal stenosis(n= 2), foreign body reactions (n= 2), residual lipoma (n= 1), and a tight hyalinized filum (n=1). Interestingly,3 of 162 (or 1.85%) myelomeningoceles were found to harbor an intradural epidermoid tumor at the time of spinal cord dethetering, accounting for an incidence of cutaneous inclusion tumors of 27% in cases of post-MMC repair tethering. After a mean follow-up time of 5.5 years, eight patients were improved, two were unchanged and one was worsened. Conclusions. Neurological deterioration is not a necessary consequence of the natural history of patients with MMC or LMC. Early or late clinical deterioration can be due to spinal cord re-tethering and deserves timely investigation and surgical exploration. Results of surgical intervention were rewarding as 92% of the patients showed improvement or stabilization in their otherwise deteriorating condition. We also report two infrequent causes of spinal cord deterioration: lumbar canal stenosis and intense foreign-body reactions to implanted materials
