Spontaneous Disappearance of an Arachnoid Cyst after Burr Hole Drainage of Chronic Subdural Hematoma / 대한신경손상학회지

It is well known that the presence of arachnoid cysts (ACs) in young patients is a risk factor for developing a chronic subdural hematoma (CSDH) after a minor head injury. Although there have been controversies with the treatment, most authors recommend only draining the CSDH if the AC is asymptomatic. This judgement is based on the facts that this surgical approach has shown good clinical outcomes, and the AC usually remains unchanged after the surgery. Our case demonstrates that the AC of a young patient who developed a CSDH after a minor head injury completely disappeared after a burr hole drainage of the CSDH. Although the chances of an AC disappearing are low, this case shows that an AC might disappear after only draining a CSDH when a rupture of the AC membrane is identified. In such cases, we recommend first draining only the CSDH for the treatment of AC-associated CSDHs.

Recurrence of Small Cerebral Aneurysms (< 4 mm) Treated Endovascularly Using Target® Nano™ Coils

OBJECTIVE: In our series, endovascular coiling with Target® Nano™ coils (Stryker Neurovascular, Fremont, CA, USA) with diameters of 1 or 1.5 mm exhibited favorable technical feasibility in the treatment of small cerebral aneurysms (< 4 mm). However, little is known about the recurrence of small cerebral aneurysms treated using Target® Nano™ coils. We investigated recurrence following the treatment of small cerebral aneurysms using Target® Nano™ coils. MATERIALS AND METHODS: Between January 2012 and November 2013, 143 patients with 148 small cerebral aneurysms (< 4 mm) were included our study. A total of 135 cerebral aneurysms (91.2%) were unruptured; 45 cerebral aneurysms (30.4%) were treated by endovascular coiling using Target® Nano™ coils. Follow-up radiological images were obtained for 132 cerebral aneurysms (89.2%) over a range of 3 to 58 months (mean, 34.3 months; standard deviation, 14.2). RESULTS: In the group treated with Target® Nano™ coils, radiological outcomes revealed complete occlusion in 33 (73.3%), residual necks in eight (17.8%), and residual sacs in four (8.9%) cases. Follow-up radiological outcomes revealed complete occlusion in 35 (77.8%) and residual necks in four (8.9%) cases that exhibited stable coil masses. In the group that was not treated with Target® Nano™ coils, radiological outcomes revealed complete occlusion in 69 (67%), residual necks in 18 (17.5%), and residual sacs in 16 (15.5%) cases. Follow-up radiological outcomes revealed complete occlusion in 87 (84.5%) and residual necks (5.8%) in six cases that exhibited stable coil masses. No significant differences were observed in the radiological outcomes or follow-up radiological outcomes between the two groups. No recurrences or retreatments occurred in our series. CONCLUSION: Endovascular treatment using Target® Nano™ coils may be a robust treatment option for small cerebral aneurysms (< 4 mm).

A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.