• Journal of Korean Neurosurgical Society
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• v.41 no.2
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• pp.130-133
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• 2007

Neurenteric cysts are rare congenital lesions of the spine that are lined with endodermal epithelium. Their most common location is the cervico-dorsal region, and the mass usually lies ventral to the spinal cord. However the conus medullaris area location is an uncommon location. Neurenteric cysts are best treated by decompression and as near total excision of cyst membrane as possible. We report a case of a 7 year-old-girl with a neurenteric cyst in the conus medullaris. The patient had a history of meningitis and a gait disturbance. Magnetic resonance imaging [MRI] showed an intramedullary mass lesion in the conus medullaris with syringomyelia. There was no associated bone or soft-tissue anomaly. The mass was subtotally removed through a posterior approach. However 4 months later, meningeal irritation signs developed and MRI showed recurrence of the cyst. At the second operation, the cystic membrane was totally removed and the patient's neurological symptoms improved postoperatively. We reports a case of recurred neurenteric cyst occurred in unusual location with the review of literature.

• Neonatal Medicine
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• v.25 no.3
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• pp.126-130
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• 2018

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.108-111
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• 2005

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

• Journal of Korean Neurosurgical Society
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• v.49 no.3
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• pp.178-181
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• 2011

Congenital anomalies in arches of the atlas are rare, and are usually discovered incidentally. However, a very rare subgroup of patients with unique radiographic features is predisposed to transient quadriparesis after minor cervical or head trauma, A 46-year-old male presented with a 2-month history of tremor and hyperesthesia of the lower extremities after experiencing a minor head trauma. He said that he had been quadriplegic for about 2 weeks after that trauma. Radiographs of his cervical spine revealed bilateral bony defects of the lateral aspects of the posterior arch of C1 and a midline cleft within the anterior arch of the atlas. A magnetic resonance imaging revealed an increased cord signal at the C2 level on the T2-weighted sagittal image. A posterior, suboccipital midline approach for excision of the remnant posterior tubercle was performed. The patient showed significant improvement of his motor and sensory functions. Since major neurologic deficits can be produced by a minor trauma, it is crucial to recognize this anomaly.

• Journal of Korean Neurosurgical Society
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• v.30 no.12
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• pp.1422-1426
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• 2001

Neurenteric cysts are developmental cysts derived from embryonic endodermal layers. Fewer than 100 have been reported in which there were no associated bone or soft-tissue malformations and only six among those cases showed intramedullary location in the literatures. The authors report a 16-year-old young man with a thoracic intramedullary neurenteric cyst which presented with symptoms of axillary pain and paraparesis. The magnetic resonance imaging showed intramedullary mass extended from level of T3 to T7. There was no associated bone or soft-tissue anomaly. This cyst was partially excised and marupialized into subarachnoid space. The pathological findings were compatible with neurenteric cyst. Nine months later, the cyst recurred and at second operation, cyst wall was removed completely.

• Journal of Korean Neurosurgical Society
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• v.54 no.4
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• pp.347-349
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• 2013

We report a very rare case of cervical compressive myelopathy by an anomalous bilateral vertebral artery (VA) entering the spinal canal at the C1 level and compressing the spinal cord. A 70-year-old woman had been suffering from progressive gait disturbance. Magnetic resonance imaging revealed that a bilateral VA at the V4 segment had abnormal courses and caused compression to the high cervical cord. VA repositioning was performed by anchoring a suture between the artery and around the arachnoid membrane and dentate ligament, and then, microvascular decompression using a Teflon sponge was done between the VA and the spinal cord. The weakness in the patient improved in the lower extremity after the operation. Anomalous VA could be one of the rare causes of cervical compressive myelopathy. Additionally, an anchoring suture and microvascular decompression around the VA could be a sufficient and safe method to indirectly decompress the spinal canal.

• Childhood Kidney Diseases
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• v.23 no.2
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• pp.124-127
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• 2019

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of the genitourinary tract comprising uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome usually present symptoms such as dysmenorrhea, abdominal pain, pelvic mass, and purulent vaginal discharge. If not treated at an appropriate time, complications such as infertility, endometriosis, pyosalpinx, and subsequent pelvic adhesions may occur. Here, we report a case of HWW syndrome in a 7-year-old-girl who was also diagnosed as having central precocious puberty. She was brought to the pediatric department with chief complaints of lump in her breast and vaginal discharge. When she was around 2 months old, she was confirmed to have a single kidney on ultrasonography. We checked her past medical history and diagnosed her as having HWW syndrome based on the results of imaging studies, including abdominal ultrasonography and pelvic magnetic resonance imaging. She underwent treatment with gonadotropin-releasing hormone analogue for 2 years. During 24 months of follow-up, she showed no serious problems or complications. If renal anomalies are identified immediately after birth or in infancy, further screening tests should be conducted prior to menstruation for determining congenital abnormalities of the reproductive tract and vice versa.

• 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 Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Journal of Yeungnam Medical Science
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• v.39 no.1
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• pp.58-61
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• 2022

Mega cisterna magna (MCM), one of the members of the Dandy-Walker complex, is a developmental malformation of the posterior fossa that is larger than 10 mm but morphologically does not affect the vermis and cerebellar hemispheres. Reports of psychiatric disorders associated with this anomaly are rare. We present the case of a patient with MCM who presented with a psychotic manic attack and was diagnosed with bipolar disorder. A 28-year-old female, single housewife, university graduate, presented with irritability, decreased sleep and appetite, distraction, and agitation. The patient also had a delusion of reference. In the clinical follow-up, an increase in energy and an increase in the amount of speech were observed. Her neurological examination was normal, and cranial magnetic resonance imaging revealed an MCM. The relationship and clinical significance of MCM with psychosis and mood disorders have not yet been fully elucidated. It is not known whether this association is accidental or based on etiological commonality. The purpose of this case report is to review the relationship between the cerebellum and psychiatric symptoms and to contribute to the literature.