• Clinical and Experimental Pediatrics
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• v.61 no.6
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• pp.194-199
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• 2018

Purpose: Sacral dimples are a common cutaneous anomaly in infants. Spine ultrasonography (USG) is an effective and safe screening tool for patients with a sacral dimple. The aim of this study was to determine the clinical manifestations in patients with an isolated sacral dimple and to review the management of spinal cord abnormalities identified with USG. Methods: We reviewed clinical records and collected data on admissions for a sacral dimple from March 2014 through February 2017 that were evaluated with spine USG by a pediatric radiologist. During the same period, patients who were admitted for other complaints, but were found to have a sacral dimple were also included. Results: This study included 230 infants under 6-months-old (130 males and 100 females; mean age $52.8{\pm}42.6days$). Thirty-one infants with a sacral dimple had an echogenic filum terminale, and 57 children had a filar cyst. Twenty-seven patients had a low-lying spinal cord, and only one patient was suspected of having a tethered cord. Follow-up spine USG was performed in 28 patients, which showed normalization or insignificant change. Conclusion: In this study, all but one infant with a sacral dimple had benign imaging findings. USG can be recommended in infants with a sacral dimple for its convenience and safety.

• Journal of Korean Neurosurgical Society
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• v.57 no.3
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• pp.225-228
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• 2015

Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline.

• Clinical and Experimental Pediatrics
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• v.62 no.2
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• pp.68-74
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• 2019

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.

• Journal of Korean Neurosurgical Society
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• v.37 no.1
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• pp.29-33
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• 2005

Objective: Congenital dermal sinus is a rare congenital disease that results from the failure of the neuroectoderm to separate from the surface ectoderm during the process of neurulation, where there is communication between the skin and the deeper structures. Their pathogenesis, clinical course and treatment strategy are well known. We analyze our series and compare our results with other series. Methods: Twenty patients were diagnosed as congenital dermal sinus and confirmed pathologically from October 1986 to July 2003 at our hospital. We studied the patients' clinical manifestations, radiological findings and pathological profiles. Results: Seven cases were located in the suboccipital area and 13 cases were located in the spinal area. Interestingly, 4 of 13 spinal lesion cutaneous openings were located lower than the 3rd sacral body level. 8 of 20 lesions were terminated at neural structures, 4 of 20 lesions were terminated at the intradural portion and others terminated at the extradural portion. Nine anomalies were combined with the dermal sinus, including 4 lipomas, 2 Currarino's triad, 1 encephalocele, 1 myelomeningocele and 1 diastematomyelia. Eleven patients had dermoid tumors. Conclusion: Congenital Dermal Sinus must be surgically removed immediately if they are diagnosed. The surgical procedure of congenital dermal sinus is complete removal, but in some cases, complete removal is impossible. In those cases, we removed all epithelial tissues. We consider sacrococcygeal dimple almost invariably have no connection with intraspinal structures. But, if other cutaneous manifestations are combined with cutaneous pits, it can communicate with the sacrococcygeal dimple.

• Clinical and Experimental Pediatrics
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• v.58 no.8
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.