Retained medullary cord with sacral subcutaneous meningocele and congenital dermal sinus.

BACKGROUND: A retained medullary cord (RMC) is a rare closed spinal dysraphism with a robust elongated cord-like structure extending continuously from the conus medullaris to the dural cul-de-sac that is caused by late arrest of secondary neurulation. Five patients with RMC extending to an associated sacral subcutaneous meningocele have been reported. CASE PRESENTATION: We report an additional patient with RMC, in whom a congenital dermal sinus (CDS) was found in the caudal portion of the RMC. At the age of 3 days, the patient underwent surgery consisting of meningocele excision and cord untethering, and CDS was noted histologically in the proximal cut end of the RMC. During a second surgery at the age of 5 months, after determining the exact border of the nonfunctional RMC and the true conus by neurophysiological mapping, we removed the entire length of the remnant RMC, including newly developed epidermoid cysts in the CDS. CONCLUSION: Although the exact pathoembryogenesis of concurrent RMC and CDS is unknown, an associated subcutaneous meningocele, caused by failure of primary neurulation, could be involved. Surgeons should be aware of the possibility of the coexistence of CDS when dealing with RMCs that extend out to the extradural space.

[A pregnant case on which EC-IC bypass was successfully performed in the acute phase of brain infarction].

A 30 year-old, 28 weeks-pregnant woman (gravida 2, para 2) suffered from a sudden onset of aphasia when she was having a chat in the upright position. Although the initial symptom soon disappeared, transient attacks of aphasia combined with weakness in the right arm occurred intermittently, particularly when she uprose. MR image disclosed a small acute infarcted focus at the genu of the left internal capsule, while MRA showed an occlusion of the intracranial portion of the left internal carotid artery. She was treated conservatively, but the transient attack continued and her consciousness was slightly lowered. Since repeated examination revealed no recanalization of the occluded artery, treatment was reinforced by using heparin and dopamine on day 1. However, her consciousness was not improved, and dopamine evoked nausea and vomiting. On day 2, superficial temporal artery to middle cerebral artery (STA-MCA) anastomosis was carried out. Soon after surgery, she regained alertness and the transient attack subsided. Examinations could not clarify the course of the occlusion. She was treated with heparin until she delivered a sound baby in the 37th week. Although STA-MCA anastomosis for acute ischemic stroke is still debatable, it may be a good option even for a pregnant woman when suffering from intractable progressing stroke.

A patient with a dysembryoplastic neuroepithelial tumor who underwent epilepsy surgery after initial seizure.

BACKGROUND: Since dysembryoplastic neuroepithelial tumors (DNTs) are benign tumors that are frequently associated with long-standing medically intractable epilepsy, it is well known that the surgical strategy is resection of the associated epileptogenic zone as well as the tumor. However, the surgical strategy for DNT with a single seizure has not been fully discussed. METHODS: We report an 8-year-old boy with DNT in the nondominant frontal lobe who underwent epilepsy surgery at 3 months after his initial seizure. RESULTS: An intraoperative electrocorticogram revealed frequent paroxysmal cortical activity lateral to the tumor. Since resection of the tumor resulted in persistent paroxysmal activity in this cortex, additional resection was performed. The histological findings in the cortex revealed the presence of cortical dysplasia (CD) (Palmini type IIA). Lesionectomy alone might have left the epileptogenic CD. CONCLUSION: It is thought that epilepsy surgery should be recommended in patients with typical neuroimaging findings of DNT, even if the patients had only one episode of seizure.

Spinal cord deformity with aggravation of tethering in saccular limited dorsal myeloschisis during the first 2 months of life.

BACKGROUND: Although the optimal timing of prophylactic untethering surgery for limited dorsal myeloschisis (LDM) with intact or subtle neurological findings diagnosed at birth remains undetermined, intentional delayed surgery is commonly used for flat and tail-like LDM. Conversely, for saccular LDM, early surgery is indicated during the postnatal period because it prevents rupture of the sac. We treated a saccular LDM patient, in whom intentional delayed surgery was selected because the sac was thickly covered with normal skin. We describe the clinical course of the case and discuss the optimal timing of the surgery. CASE DESCRIPTION: The patient had a dorsal midline sac in the upper lumbar region. Initial magnetic resonance imaging (MRI) after birth revealed a tethering tract that began at the dome of the sac and joined the lumbar cord. Dorsal bending of the cord at the stalk-cord union and invagination of the cord into the sac were noted. At 2 months, he was neurologically normal; however, the second MRI examination revealed that the cord tethering was aggravated. The cord was markedly displaced dorsally and to the left, with deviation of the cord to the sac out of the spinal canal. Following untethering surgery, the spinal cord deformity markedly improved. CONCLUSION: Early surgery may be recommended for saccular LDM when tethering is present, including dorsal bending of the cord at the stalk-cord union and invagination of the cord into the sac observed on detailed MRI examination, even if the sac has no risk of rupture.

Two Cases of Large Filar Cyst Associated with Terminal Lipoma: Relationship with Retained Medullary Cord.

BACKGROUND: A small, incidental filar cyst associated with terminal lipoma is thought to be caused by failure of secondary neurulation; however, the precise embryologic background is not fully understood. Retained medullary cord (RMC) also originates from late arrest of secondary neurulation. The central feature of RMC histopathology is a central canal-like ependyma-lined lumen with surrounding neuroglial core. CASE DESCRIPTION: We surgically treated 2 patients with a large cyst in the rostral part of the filum and lipoma in the caudal filum. At cord untethering surgery, the filum was severed at the caudal part of the cyst. Histopathologically, the filar cyst was the cystic dilatation of the central canal-like structure at the marginal part of the lipoma. The central canal-like structure was continuous caudally in the lipoma, and its size decreased toward the caudal side. CONCLUSIONS: The present findings support the idea raised by Pang et al that entities such as filar cyst, terminal lipomas, and RMC can all be considered consequences of a continuum of regression failure occurring during late secondary neurulation.

[Case of Gerstmann-Sträussler-Scheinker syndrome (GSS-P102L) mimicking variant Creurtzfeldt-Jakob disease in clinical manifestation and MRI findings].

We reported a 51-year-old woman with Gerstmann-Sträussler-Scheinker syndrome (GSS P102L) manifesting characteristic MRI findings. At the age of 45, She developed gait disturbance with muscle atrophy in the lower limbs and positive plantar flexor sign. Subsequently, sensory disturbance such as refractory pain in the lower limbs and ataxic gait were developed at the age of 49. Following these clinical symptoms, she finally demonstrated rapid progressive cognitive dysfunction. Just after presenting cognitive dysfunction, cranial MRI was performed. Cranial MRI with diffusion-weighted imaging and FLAIR imaging demonstrated abnormal high intensity lesions in the bilateral pulvinar, caudate nuclei and cerebral cortex. The degree of high signal at the pulvinar was less than those of the cortex and caudate nuclei. A proline-for-leucine substitution at codon 102 of the prion protein gene was demonstrated. These results allowed the diagnosis of GSS (P102L). This is a rare case of GSS (P102L) presenting with high intensity lesions in the bilateral pulvinar on MRI.