An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis.

BACKGROUND: Osteopetrosis (OP) is a varied clinical condition caused by malfunction or insufficient development of osteoclasts, or both. Neurologic findings can occur because of osteopetrotic conditions restricting neural foramina through which the spinal cord, cranial nerves, or major vascular structures traverse the skull. Renal tubular acidosis (RTA) is a well-documented condition with OP. However, Chiari I malformation is rarely reported concomitantly with OP. CASE DESCRIPTION: We present a patient with a known RTA who was admitted with a rapid progressive tetraparesis within 24 hours. Clinical and radiologic evaluation of the patient revealed OP with RTA together with Chiari I malformation and holocord hydromyelia. Management of the patient was started with correction of severe hypokalemia (K: 1.4 mEq/L), which resulted in dramatic improvement in tetraparesis. Two days later, a posterior fossa bone decompression with ventriculoperitoneal shunt placement during the same session led to prominent decrease in size of the ventricles and the hydromyelia on long-term follow-up. CONCLUSIONS: Patients with OP can exhibit many clinical conditions. However, our case involved an unusual and rapid progressive tetraparesis, which could confuse the management as necessitating an emergent posterior fossa decompression. Stabilizing the metabolic status of the patient facilitated elective surgery, which further improved patient's neurologic findings and diminished hydromyelia on long-term follow-up.

Aplasia cutis congenita associated with type I split cord malformation: Unusual case.

A full-term newborn girl born with large skin, muscle, bone and dural defect in the lumbo-sacral area. The lesion included a split spinal cord by a perpendicular bony spur and connected from its tip to the upper lamina. Patient was diagnosed with aplasia cutis congenita (ACC) associated with type I split cord malformation (SCM). Neurological examination of the lower extremities was normal. Spinal X-rays showed a bony spur on the L2 vertebral column and laminar defect in the lumbo-sacral area. Lesion was operated and closed according to anatomic layers. Clinical and intraoperative findings of this extremely rare case are discussed.

The effects of valproic acid and levetiracetam on chicken embryos.

For patients with epilepsy, anti-epileptic medication is generally the first line of treatment, but treating pregnant women with epilepsy can be a challenge. Standard anti-epileptic medications have caused developmental abnormalities, so much effort has been put into developing antiepileptic medications with minimal teratogenic effects. In this experimental study, the new-generation anti-epileptic medication levetiracetam and the standard anti-epileptic medication valproic acid were compared in terms of teratogenicity by studying embryonic development in 360 fertile White-Leghorn chicken eggs (conception day 0). We found that levetiracetam may cause severe developmental abnormalities, and is likely not safe for use in pregnant women. As expected, valproic acid caused more frequent developmental abnormalities than levetiracetam, and the risk increased still further when both drugs were administered in combination. Levetiracetam should be used cautiously in pregnant women with epilepsy.

Surgical treatment of trigonocephaly: technique and long-term results in 48 cases.

OBJECT: The authors present their experience in the surgical treatment of metopic synostosis by orbital bandeau remodeling and frontal bone rotation. The pitfalls and advantages of the surgical technique are discussed, along with the long-term clinical results in 48 consecutive cases. METHODS: Forty-eight consecutive patients in whom trigonocephaly was diagnosed between 1990 and 2009 were treated with frontal bone rotation and frontoorbital bandeau remodeling. Of these patients, 38 (79%) were boys and 10 (21%) were girls. The age at the time of surgical treatment ranged between 4 and 42 months (mean ± SD 11.4 ± 8.7 months). The average follow-up period was 5.5 ± 4.2 years (range 5 months-19 years). The preoperative and latest postoperative photographs of the patients were evaluated for the following features: 1) shape of the forehead; 2) hypotelorism; and 3) temporal depression. Scores of 0, 1, or 2 were assigned for each item: 0 was normal, 1 meant moderate deformity, and 2 denoted severe deformity. RESULTS: In the early postoperative period, no complications were documented. The average hospitalization period was 4 days. Follow-up radiographs or 3D CT scans were obtained at regular intervals. The mean preoperative scores for the evaluated items were 1.38 ± 0.49 for the shape of the forehead, 1.33 ± 0.48 for hypotelorism, and 1.7 ± 0.46 for the temporal depression. The mean postoperative scores were 0.06 ± 0.24 for the shape of the forehead, 0.21 ± 0.4 for hypotelorism, and 0.67 ± 0.48 for the temporal depression. Overall, the total preoperative score dropped from 4.4 to 0.93 postoperatively (p < 0.05). All the patients were contented with the cosmetic results. CONCLUSIONS: Early detection and treatment of metopic suture synostosis has a significant, favorable influence on the outcomes. Good understanding of the structural abnormality and the pathophysiological mechanisms of the possible complications is very important for performing proper surgical reconstruction.

Lateral tethering intraspinal lipoma with scoliosis.

The authors present an unusual case of an intradural lipoma at the thoracolumbar level causing lateral tethering of the spine, with complicated scoliosis. A 6-year-old girl was admitted with progressive change in posture detected by her parents. Thoracolumbar scoliosis was detected by physical examination and X-ray studies. Spinal magnetic resonance imaging revealed an intradural lipoma and right lateral tethering of the spine at the upper lumbar level. After surgical release of lateral tethering and resection of the lipoma, fusion was performed by the orthopedic surgery team. Radiological and intraoperative findings of this extremely rare case are discussed.

Terminal syringomyelia mimicking an intramedullary tumor: case report.

In this report, the authors present a 14-year-old male patient admitted with progressive paraparesis and urinary incontinence that developed in a 3-month period. Thoracolumbar MRI revealed an intramedullary lesion starting from the level of the T10 vertebra and extending to fill the sacral spinal canal. Based on the radiological findings an intramedullary tumor was suspected. Exploratory operation with right L5 hemilaminectomy was done and the intraoperative finding was syringomyelia which was punctured with releasing of the tethered cord. The patient was followed for 3 years with clinical and radiological regression of the pathology and no symptoms and sings have remained. Syringomyelia can mimic intramedullary tumors clinically and radiologically. That is why it is useful to consider exploratory hemilaminectomy to confirm diagnosis.

Treatment of symptomatic interhemispheric arachnoid cysts by cystoperitoneal shunting.

Arachnoid cysts (AC) located within the interhemispheric fissure are rare, frequently associated with agenesis or hypogenesis of the corpus callosum. The optimal method for surgical treatment is under debate. In this study, we retrospectively reviewed the clinical results of seven infants (five males, two females; mean age, 5.1 months) with large interhemispheric AC who underwent cystoperitoneal shunting (CP) and evaluated the long-term efficacy in terms of clinical data, psychomotor development and neuroimaging. All patients were symptomatic and operated on before they reached 1 year of age. In three patients, additional ventricular catheters were inserted due to concomitant hydrocephalus. The additional catheters were joined with the cyst catheters and the peritoneal catheters with Y-shaped connectors in the same session. The patients were followed up for an average of 57 months (range 24-120 months). The clinical and developmental outcome was good in most patients with complete resolution of symptoms and signs. The developmental outcome scale, which included cognitive and psychomotor development, was "good" (normal) or "fair" (near normal) for six of seven patients. Radiologically, the cyst was completely or nearly totally resolved in five patients, and partially resolved in two. In these symptomatic patients with interhemispheric AC, CP shunting provided favorable treatment outcomes with complete or near-total resolution of symptoms and reduction in cyst size or disappearance of the cyst.

Supratentorial high grade astroblastoma: report of two cases and review of the literature.

Astroblastoma is a rare glial tumor with uncertain histopathological origin and unpredictable clinical behavior. In this report, the authors present two cases of high grade intracerebral astroblastomas. Both tumors occurred in children as supratentorial, well-circumscribed, peripheral masses. The lesions differed radigraphically; one contained a huge cystic component and heterogeneously enhancing mural nodule while the other appeared as a prominently contrastenhancing solid mass lesion. Both patients were treated with surgery and postoperative radiotherapy. They were followed-up long-term and no recurrence of the tumor was detected in either case. We also discussed the radiological and histological characteristics with prognostic features.

A vertebral hydatid cyst infection mimicking tuberculous spondylodiscitis.

Hydatid disease involving the vertebral body and paravertebral soft tissues is rare even in rural areas where echinococcosis is endemic. The case of a 34-year-old woman with vertebral hydatid disease mimicking tuberculous spondylodiscitis (Pott's disease) is presented in this report. Spinal hydatid disease should be considered in the differential diagnosis of spondylodiscitis in endemic countries, and tested for with imaging and serology.

Bilateral peninsula-shaped linear craniectomy for mild degrees of craniosynostosis: indication, technique and long-term results.

OBJECTIVE: The goals of surgery in craniosynostosis are to reduce increased intracranial pressure and to achieve a good aesthetic result with minimal mortality and morbidity. A new type of strip craniectomy according to these principles is presented. PATIENTS: The technique was applied to seven cases of oxycephaly and three cases of scaphocephaly under 5 years of age. None of them had major cranial base involvement, facial deformity or marked psychomotor retardation. There was no syndromic case of craniosynostosis included in this group. METHODS: A curvilinear parasagittal craniectomy was combined with coronal and lambdoid craniectomies bilaterally. These craniectomies were curved postero- and antero-inferiorly, respectively, in order to create bilateral 'peninsula-shaped' parieto-temporal bones with their neck still attached to the temporal bone. A linear craniectomy, crossing the superior sagittal sinus and combining right and left curvilinear craniectomies was added. RESULTS: The operative time varied between 45 min and 1h, without any complications. Correction of the skull shape was successful in all cases. CONCLUSION: This technique is simple and effective. But, it is only applicable to a minority of craniosynostoses. Patient selection is the key to better results.