Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression.

INTRODUCTION: Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae. CASE PRESENTATION: We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1-L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. DISCUSSION/CONCLUSION: To our knowledge, this is the first case report of exclusive neurogenic bladder and fecal incontinence in an achondroplasic child. Neurogenic bladder and fecal incontinence without motor impairment may be early and exclusive clinical findings of lumbar stenosis in children with achondroplasia.

Interdural cavernous sinus dermoid cyst in a child: case report.

Interdural dermoid cysts (DCs) of the cavernous sinus (CS), located between the outer (dural) and inner layer (membranous) of the CS lateral wall, are rare lesions in children. The authors report on a 5-year-old boy with third cranial nerve palsy and exophthalmos who underwent gross-total removal of an interdural DC of the right CS via a frontotemporal approach. The patient had a good outcome and no recurrence at the 12-month follow-up. To the best of the authors' knowledge this is the second pediatric case of interdural DC described in the literature.

Spinal tumors in children: long-term retrospective evaluation of a series of 134 cases treated in a single unit of pediatric neurosurgery.

BACKGROUND CONTEXT: Spinal tumors in childhood are rare and heterogeneous, and their treatment is very demanding. It is necessary to both manage the disease and preserve the spinal stability so that the spine can grow normally. As a consequence, results in terms of both mortality and morbidity are often suboptimal. PURPOSE: The results of a single pediatric neurosurgery institution are reported to highlight the peculiarities and pitfalls of the management of this disease. Tumors are analyzed from the point of view of their localization, histology, and outcome in terms of mortality and morbidity, with a special focus on postoperative spinal deformity. STUDY DESIGN: The study design was retrospective. PATIENT SAMPLE: Between 1995 and 2011, 134 children (75 males and 59 females) were admitted for spinal tumors, accounting for 7.7% of all the patients admitted for central nervous system malignancies. The mean age was 8.5 years (14 days-26 years), and the mean follow-up was 28 months (3 months-13 years). OUTCOME MEASURES: Clinical and radiological outcomes were evaluated to assess mortality, morbidity, and surgical outcomes. A special interest was directed toward morbidity related to spinal deformity and neurologic deficits. METHODS: Patients were divided into four groups: intramedullary (46 patients), intradural extramedullary (25 patients), extradural (53 patients), and paravertebral tumors (10 patients). Data were obtained retrospectively from medical records and radiological archives. RESULTS: Low-grade glioma was the most common histology (14.1%). One hundred seventeen patients were surgically treated, with a total of 138 surgical procedures. A posterior approach was chosen in 111 cases, with osteoplastic laminotomy in 80. Radiotherapy was administered to 22 patients and chemotherapy to 26. At the last follow-up, 16 patients (11.9%) had died. A good control of the tumor with clinical improvement was reported in 100 patients (74.6%). Five patients developed a spinal instability (3.7%). CONCLUSIONS: The goals of surgery should be histology, spine and nerve root decompression, and preservation of spinal stability. In our experience, osteoplastic laminotomy was a good surgical approach to perform the resection of the tumor with a low risk of secondary spinal instability.

Surgical management of congenital median perisellar transsphenoidal encephaloceles with an extracranial approach: a series of 6 cases.

OBJECTIVE: Median perisellar congenital transsphenoidal encephalocele (CTE) is a rare entity associated with multiple endocrine, visual, and respiratory deficits. The most likely causative factor for these pathological alterations is distension of neural structures (hypothalamic-pituitary system, optic pathway), resulting in protrusion of the dural sac through a sphenoid bone defect into the pharynx. The continuity with the extracranial space can be associated with an increased risk of tearing of the sac, with consequent cerebrospinal fluid leakage and subsequent increase in the risk of infection. We retrospectively reviewed the surgical treatment of CTE in our hospital using either an extracranial transoral or transnasal approach. METHODS: We retrospectively reviewed our database. Between July 1994 and June 2005, CTE we identified 6 patients. Five of them were treated by a surgical intervention. The first patient was treated via a transcranial approach but had a relapse of the prolapse 11 years later. The relapse was treated with an extracranial transpalatal approach. Four patients were treated with an extracranial surgical approach: an extracranial transoral approach was performed in 2 cases, and an extracranial transnasal approach was used in the other 2 cases. Surgery was not performed in 1 patient because the parents refused to consent to the procedure. RESULTS: Preoperative symptoms remained stable or improved in all of the patients after the surgical procedure and worsened in the patient who did not have a surgical intervention. Two patients experienced a palatal dehiscence. No mortality was recorded in this series of patients. CONCLUSION: The surgical treatment of CTE is indicated to stop the progression or improve symptoms related to this disease entity. If approached correctly, the extracranial approach is a safe procedure with subsequent low morbidity.

Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.

Differently from conventional primary neuroectodermal tumors (PNETs), molecular features of undifferentiated lesions have been poorly studied. Medulloblastoma and PNET neoplasms showed a high incidence of loss of heterozygosity (LOH) on chromosome 17p13, in the region of tumor suppressor gene p53. Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. We performed molecular analysis in an anaplastic tumor of posterior fossa in a patient with a constitutional maternal translocation [46,XX,t(5;19)] and a history of headache, nausea and vomiting. We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA. These molecular findings helped us better characterize this undifferentiated tumor and led to a more aggressive therapy.