Dorsal midline cutaneous stigmata associated with occult spinal dysraphism in pediatric patients / 소아과

PURPOSE: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations. METHODS: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected. RESULTS: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies. CONCLUSION: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.

Intraspinal and Urogenital Abnormalities in Infants with Sacral Cutaneous Lesions

PURPOSE: Sacral cutaneous lesions, such as dimples and hairy patches, may be associated with occult spinal dysraphism and urogenital abnormalities. This study aim to delineate high risk infants who need early screening for intraspinal and urogenital abnormalities by identifying the association between cutaneous lesions and combined abnormalities. METHODS: Sacral ultrasonography was performed in 777 infants with sacral cutaneous lesions from January 2010 to July 2014. Of these, 317 infants underwent abdominal ultrasonography for urogenital abnormalities. We reviewed the patient's medical records and radiographic findings retrospectively. RESULTS: Of the 777 infants, abnormal intraspinal findings such as tethered cord or meningocele were reported in 26 (3.4%). Sixteen of these 26 patients with abnormal findings underwent follow-up ultrasonography or MRI; 4 infants were diagnosed with lipomeningomyelocele through MRI, and 1 infant underwent a neurosurgical procedure. Among the 317 infants who underwent abdominal ultrasonography, 78 infants (24.6%) had congenital hydronephrosis and 8 infants (2.5%) had other urogenital abnormalities including duplication of kidney, vesicoureteral reflux, horseshoe kidney, renal cyst, or multicystic dysplastic kidney. Urogenital abnormalities were more common in patients with sacral dimples associated with hair or deviated gluteal folds than in those with simple dimples (OR 3.24 and 8.88; P=0.007 and P=0.001, respectively). CONCLUSION: Midline sacral cutaneous lesions may be associated with occult spinal dysraphism and urogenital abnormalities. To detect intraspinal lesions, ultrasonography is recommended for infants with sacral cutaneous lesions. Likewise, infants with sacral dimples associated with either hair or deviated gluteal folds, should be evaluated via abdominal ultrasonography to assess for combined urogenital abnormalities.

The Role of Ultrasound Investigation: Sacral Dimples and Other Stigmata of Spinal Dysraphism in Infants

STUDY DESIGN: A retrospective study. OBJECTIVES: Using ultrasound to evaluate association of minor cutaneous stigmas with occult spinal dysraphism (OSD) according to the presence of co-morbidities. SUMMARY OF LITERATURE REVIEW: OSD can be associated with various cutaneous markers. Ultrasound of the spine is an effective, non-invasive screening method. MATERIALS AND METHODS: Over a 5-year period (2009-2013), a total of 180 infants with various skin stigmas were evaluated. Ninety-seven patients were normal infants, eighty-three had other co-morbidities. The type of skin stigmata and/or co-morbidities as well as lumbar ultrasound results were reviewed for all patients. RESULTS: Three of the 97 normal infants had abnormalities. One of the three had OSD. Eighteen of the 83 infants with congenital anomalies had abnormalities, and eleven of the 18 had OSD. Infants with congenital anomalies were 6 times more likely to have OSD than normal infants (OR 5.98, 95% CI 1.927 to 18.612, p=0.001) and there was no significant correlation between the presence of minor skin lesions and the presence of dysraphism. CONCLUSIONS: So-called minor skin lesions were not markers of OSD in normal infants. However, because of the feasibility, simplicity, and low cost of spinal ultrasound, the examination is justified by the benefits of early diagnosis.

Marcadores cutáneos de disrafia espinal oculta: reporte de 5 casos / Skin markers of occult spinal dysraphism: report of 5 cases

Las disrafias espinales ocultas son patologías caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel y no hay exposición del tejido nervioso. El diagnóstico precoz es de gran importancia, ya que la corrección quirúrgica oportuna puede prevenir daño neurológico irreversible. Existen alteraciones cutáneas que se asocian a la presencia de disrafias espinales ocultas. Debido a que en muchos casos estos marcadores cutáneos son la única manifestación inicial de estas alteraciones, es fundamental que el pediatra esté familiarizado con ellos, para poder realizar un estudio diagnóstico y terapéutico adecuado. Dentro de los marcadores cutáneos descritos en la literatura, una combinación de dos o más alteraciones cutáneas congénitas de la línea media constituye probablemente el predictor más importante de disrafia espinal oculta. Lesiones como el lipoma de la línea media y la cola de fauno son los marcadores aislados de mayor riesgo. Actualmente las disrafias espinales ocultas cuentan con cobertura GES, por lo que todo paciente en el que se sospeche el diagnóstico, debe ser derivado a neurocirujano, quien deberá evaluarlo en un plazo máximo de tres meses.

Occult spinal dysraphism are diseases characterized by the incomplete fusion of the neural tube, where the lesion is covered by skin and there is no exposure of nerve tissue. Early diagnosis is very important, because prompt surgical correction can prevent irreversible neurological damage. There are usually skin changes associated with the presence of occult spinal dysraphism. Because in many cases these skin lesions are the only initial manifestation of the disease, it’s essential for the pediatrician to know them well, for achieving a timely and appropriate diagnosis. Among the skin markers described in the literature, a combination of two or more skin lesions of the midline is probably the best predictor of occult spinal dysraphism. Lesions such as lipoma of the midline and faun tail have the highest risk for these disorders. Occult spinal dysraphism have GES financing, so every patient in whom the diagnosis is suspected should be referred to a neurosurgeon, who will perform an evaluation within three months.

Lipoma espinhal associado a seio dérmico congênito: relato de caso / Spinal lipoma associated with congenital dermal sinus: a case report

Os lipomas espinhais são raros, respondendo por 1 por cento de todos os tumores espinhais, estando associados ao disrafismo espinhal oculto em mais de 99 por cento dos casos. Estão divididos em três tipos principais: lipomielomeningocele, lipoma intradural e fibrolipoma do filo terminal. Este relato descreve um caso de lipoma lombossacral congênito associado a estigma cutâneo do tipo seio dérmico lombar congênito.

Spinal lipomas are rare, accounting for 1 percent of all spinal tumors and being associated with occult spinal dysraphism in more than 99 percent of cases. Such lesions are divided into three main types, namely, lipomyelomeningoceles, intradural lipomas, and filum terminale fibrolipomas. The present report describes a case of congenital lumbosacral lipoma associated with cutaneous stigmata of the lumbar dermal sinus type.

Terminal Myelocystocele: A Skin-Covered Lumbosacral Cystic Mass

OBJECTIVE: Terminal myelocystocele(TMC) is a closed form of neural tube defect, presenting a large, fully epithelialized, cystic lumbosacral mass containing fat, cerebrospinal fluid and neural tissue. This report demonstrates the clinical manifestation, surgical management, and the outcome of TMC patients. METHODS: The medical records of the six patients(male/female=3/3) with surgically and histologically proven TMC, registered between 1991 to 2001, were retrospectively reviewed. The initial presentation, features of the lumbosacral mass, urodynamic study, motor function of the lower extremity, the age at the repair and postoperative status were investigated. RESULTS: Initial symptoms and signs were low back mass, urinary/fecal incontinence, and lower limb deformity. One patient was associated with cloacal exstrophy, one patient had imperforated anus, and three patients had foot anomalies. All patients had urological problems on urodynamic study. Neurosurgical correction of the TMC was undertaken at the median age of three months. The mean follow-up period was 71 months(range: 9-136 months). Four patients voided with clean intermittent catheterization postoperatively. One patient underwent augmentation ileocystoplasty and Malone operation. One patient had orthopedic operation. CONCLUSION: Understanding about the characteristic features of TMC and its embryogenesis is necessary for the diagnosis of this entity. For the management of the TMC, early prophylactic surgical intervention is recommended to prevent secondary deterioration in neurological function. Postoperatively all patients must be followed-up long-termly on urological function and lower extremity status.