An extreme lateral lumbar disc herniation mimicking L4 schwannoma.

OBJECTIVE: We herein describe a case with an extraspinal mass distorting the right L4 dorsal root ganglion. Initially presumed to be a nerve root schwannoma, the lesion turned out to be a free disc fragment. METHODS AND RESULTS: A 46-year-old woman presented with a history of mild low back and intense right leg pain. The leg pain was like electrical discharges. Right knee extension was weak together with hyperalgesia and loss of heat sensation in the right LA dermatome. The right patellar reflex was absent. Electromyography showed acute and chronic denervation of muscles innervated by the right L4 nerve root. MR scan showed a right L4-5 extraforaminal mass distorting the L4 dorsal root ganglion. The mass enhanced homogeneously after gadolinium injection and was thought to be a tumor. It was surgically removed using a midline incision and intraspinal, followed by extraspinal dissection. Under the operating microscope, the mass extended between an intact lateral longitudinal ligament and a swollen dorsal root ganglion. Histopathologic examination ruled out a tumor and showed that the mass consisted of degenerated disc material surrounded by a large peripheral zone of neovascularization. CONCLUSION: Extraforaminal periganglionic free, encapsulated disc fragments may mimic tumoral masses, from which they may not be distinguished on MRI.

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.

We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation and high creatine kinase. Muscle biopsy showed dystrophic changes with partial deficiency of the laminin alpha(2) chain. Cranial magnetic resonance imaging revealed multiple small cysts in the cerebellum, without cerebral cortical dysplasia or white matter changes. The laminin alpha(2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis. We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy.

Coexistence of life threatening chemotherapy related leukoencephalopathy, saggital sinus thrombosis and multiple organ failure in a child with acute lymphoblastic leukemia: an unusual case with clinical recovery.

A nine-year old girl with T cell acute lymphoblastic leukemia (ALL) had acute severe neurologic complications at the end of the remission-induction chemotherapy course. Thirty-six hours following triple intrathecal (IT) therapy and intravenous (IV) administration of L-asparaginase (L-asp), tetraplegia developed and she became unconscious. She had bouts of hypertension and persistent tachycardia unresponsive to digitalis therapy. Magnetic resonance imaging (MRI) showed multiple brain white matter hyperintensities and filling defects in the saggital sinus, suggesting thrombosis. Over the 40 days, in addition to her neurologic compromise she also had transient diabetes mellitus, severe hyperlipidemia, hypoproteinemia and edema, liver and heart failure and staphylococcus aureus sepsis with prolonged bone marrow depression. Despite, coexistence of all these chemotherapy related complications, her neurologic functions and multiple organ failure improved gradually. After a 70 days' period of interruption, chemotherapy was resumed and continued without any further complications. Although, the etiology of her extensive sensitivity to some drugs remains unclear, we believe that it is important to document these unusual events in this child.

Riedel's thyroiditis in multifocal fibrosclerosis: CT and MR imaging findings.

Riedel's thyroiditis is a rare disorder of unknown etiology and may be seen isolated or as a part of multifocal fibrosclerosis. It is important to distinguish Riedel's thyroiditis from thyroid carcinoma. Reports about imaging features of Riedel's thyroiditis are limited in the radiologic literature. We describe herein CT and MR imaging features of Riedel's thyroiditis in a case of multifocal fibrosclerosis with previously unreported radiologic observations.

Acute ascending myelitis and encephalopathy after intrathecal cytosine arabinoside and methotrexate in an adolescent boy with acute lymphoblastic leukemia.

A 14-year-old boy with acute lymphoblastic leukemia developed acute ascending myelitis followed by encephalopathy after intrathecal administration of methotrexate 15 mg and cytosine arabinoside 50 mg. The patient had none of the risk factors noted previously in other patients with intrathecal therapy (IT) induced neurotoxicity. The doses administered were within the standard scales, and toxicity developed in the second boost of IT 20 days after the first one. There may not be any parameters to predict the occurrence of such severe and rare form of CNS neurotoxicity attributed to IT.

Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases.

Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though this may not be accurate. Molecular genetic studies hopefully will be the answer. Our cases are the continuum of increasingly reported CMD cases with severe brain manifestations, which come from the area geographically far away from those of original descriptions.

Cockayne syndrome: review of 25 cases.

Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical features included photosensitivity (84%), gait disturbances (84%), progeroid appearance (84%), and ocular abnormalities (88%). The most consistent laboratory findings comprised abnormal nerve conduction (slowed conduction in 13 of the 16 cases with an ENMG), and an abnormal brainstem auditory evoked response (BAER) and/or audiometry (abnormal in 13 of the 17 cases in whom either one of them were available). Cerebral atrophy and calcification of the basal ganglia were the next more common laboratory findings. Clinical criteria are useful in most instances in the diagnosis of CS. In patients in whom the clinical features are controversial for a diagnosis of Cockayne syndrome, studies directed to disorders of myelination involving both peripheral and central nervous systems in conjunction with audiometry may aid in the diagnosis.

Rhombencephalosynapsis associated with hand anomalies.

A case of rhombencephalosynapsis, a very rare disorder characterized by agenesis or hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres, is reported with magnetic resonance imaging features. Radiographs showed anomalies in both hands; namely phalangeal hypoplasia and occult polydactyly in the right hand and syndactyly in the left, previously unreported in association with this disorder.

Does transverse apex coincide with coronal apex levels (regional or global) in adolescent idiopathic scoliosis?

STUDY DESIGN: Cross-sectional. OBJECTIVES: To identify the regional and global apexes of curves in adolescent idiopathic scoliosis and to compare the levels of those with the most rotated vertebral levels on computed tomography scans. SUMMARY OF BACKGROUND DATA: The terminology regarding the terms and definitions had been arbitrary until being refined and standardized by the Scoliosis Research Society Working Group on Three-Dimensional Terminology of Spinal Deformity. Apical vertebra or disc is defined as the most laterally deviated vertebra or disc in a scoliosis curve, but the most rotated vertebra (or disc) has not been included in this terminology. One study suggested that the most rotated vertebral level was always located at the apex. METHODS: Thirty-three structural curves of 25 consecutive patients scheduled for surgery for thoracic or thoracolumbar scoliosis were analyzed with standing anteroposterior radiographs and computed tomography scans covering the curve apexes and pelvis. Thoracic and lumbar curves were evaluated separately for all Type II curves. Vertebral rotations were normalized by the rotation of the pelvis. The most rotated vertebral (or disc) levels (transverse apex) were compared with the regional and global apex levels (vertebra or disc) (coronal apexes) of the corresponding curves separately. RESULTS: Regional and global apexes were at the same level in 18 (54.5%) curves, and within half a level in another 15 (45.4%), and the regional apex was one level higher in two curves (95% confidence levels: -0.82, +0.88). Comparison of the most rotated levels with regional and global apex levels revealed a higher variability, extending up to two levels for the global apex (95% confidence levels: -1.19, +1.54 levels for the global and -1.0, +1.41 levels for the regional apexes). CONCLUSION: This study demonstrated that the regional or global apex of a given curve is the most rotated level in only a minority of the curves. The most rotated level may be as far as two levels from the global apex and one level from the regional apex.

Magnetic resonance imaging in growth hormone deficiency: relationship between endocrine function and morphological findings.

Magnetic resonance imaging (MRI) using gadopentetate dimeglumine (Gd-DTPA) improves the delineation of hypothalamic-pituitary structures and facilitates the detection of anatomical abnormalities which are indicators of permanent growth hormone deficiency (GHD). The aim of this study was to determine the frequency of neuroradiological abnormalities in 85 (52 M, 33 F) patients with hereditary or idiopathic forms of isolated GHD (IGHD) or multiple pituitary hormone deficiency (MPHD) and also to investigate the relationship between anatomical findings and hormonal status. Pituitary hypoplasia with absent or thin infundibulum and ectopic posterior pituitary (EPP) were the most frequent findings in 39 patients with MPHD, whereas in 46 patients with IGHD the most frequent finding was pituitary hypoplasia without neuroradiological abnormalities. All patients whose infundibulum was not visualized after Gd-DTPA injection belonged to the MPHD group; therefore, absence of pituitary stalk can be a good indicator of the severity of hormonal deficiencies. Pituitary hypoplasia was found in all patients with familial IGHD. Among patients with abnormalities of the hypothalamic pituitary area on MRI, normal or breech delivery frequency distributed equally. Therefore it seems that mechanical or hypoxic prenatal events cannot be the primary etiological factor in all patients with neuroradiological abnormalities since half of these patients had normal delivery and birth history. The localization of the bright spot of the posterior pituitary at the level of the median eminence, midstalk position or at the end of the infundibulum may suggest a neuronal migration defect which may occur during early embryogenesis. In conclusion, in children with GHD a careful examination of the hypothalamic pituitary area by MRI after enhancement helps to establish the diagnosis and predicts the prognosis.

Pleuropulmonary blastoma in a child presenting with pneumothorax.

Pleuropulmonary blastoma is an uncommon primary malignant tumor of the lung. Surgery is the most important part of the treatment. Despite the use of chemotherapy with or without radiotherapy, the prognosis is poor. Here we report on the case of a 2.5 year-old boy presenting with pneumothorax who turned out to have a right hemithoracic mass. The patient underwent surgical resection of the mass. Pathologic diagnosis was type II pleuropulmonary blastoma. Postoperative thoracic CT showed nodular residual densities so the patient was given adjuvant combination chemotherapy with cisplatin and etoposide. He has been disease free for 12 months.

Fibromuscular dysplasia of the basilar artery: a case with brain stem stroke.

Fibromuscular dysplasia of the basilar artery is a rare and usually asymptomatic vascular disease with only 5 cases reported in the literature. A thirty-eight-year-old man who developed ischemic neurologic symptoms of the brain stem due to dysplasia of the basilar artery is presented, and the clinical features, radiology, treatment, and prognosis of this disease are discussed in correlation with the current data.

[Mesoblastic nephroma in adults: a clinical case]. / Néphrome mésoblastique de l'adulte: un cas clinique.

Mesoblastic nephroma is the most common renal tumor in infancy but is infrequent in the adult. It has a typical histological pattern but its histogenesis is unknown. We report a case of mesoblastic nephroma in an eighteen year old man who was treated by conservative surgery.

Diagnostic value of computed tomography in spinal and lateral recess stenosis, preoperatively and for long-term follow-up: a prospective study in 50 cases.

Preoperative measurements of lateral recess, anterior-posterior diameter of the spinal canal and interpedincular distance were made in 50 patients with low back pain. The results were compared with the surgical findings. The patients were followed up for two years. CT findings and clinical results were evaluated to determine whether preoperative CT could provide any evidence of failed spinal surgery in patients with recurrent symptoms.

Computed tomography and angiographic findings of childhood moyamoya disease.

Moyamoya disease is a rare entity consisting of bilateral stenosis or occlusion of internal carotid arteries with abnormal collateral vessels at the base of the brain. We present five Turkish children with this disease, which is more common in Japan. Focal neurologic deficits and/or epilepsy were the common presenting symptoms in two girls and three boys between the ages of 1.5 and 11 years. Multiple cerebral infarcts were diagnosed in all of the cases by Computed Tomography (CT). Abnormal net-like vessels at the base of the brain were detected in three patients. Cerebral angiography, which is necessary to confirm the diagnosis, showed moyamoya vessels and bilateral stenosis or occlusion of the internal carotid arteries in all cases. Although the angiographic staging was advanced in three patients, neither clinical status nor parenchymal abnormalities detected with CT were different from the other two cases.

Magnetic resonance imaging (MRI) findings in isolated growth hormone deficiency.

In this study the presence of pituitary-hypothalamic abnormalities was searched by magnetic resonance (MR) imaging in 30 children (18 males and 12 females, aged 7.4 to 23 years) with isolated growth hormone deficiency (IGHD). Small anterior pituitary was demonstrated in 18 patients and ectopic posterior pituitary (EPP) in four of them. Pituitary stalk was found to be thin in two patients with anterior pituitary hypophasia and EPP and was visible only in post-gadolinium images. In one patient, a hypothalamic mass was found and the bright spot of the posterior pituitary was found without diabetes insipidus, possibly due to a variation in the intensity of the bright signal. Eight patients had normal pituitary imaging suggesting functional damage. In all five patients with familial growth hormone deficiency the anterior pituitary was hypoplastic. We conclude that a high percentage of patients with IGHD had anomalies of the hypothalamo-pituitary region, which could be demonstrated by MR imaging. Furthermore, the low frequency of perinatal abnormalities in these patients suggested developmental defect as the cause of the morphostructural abnormalities. The presence of the familial cases with the same defect pointed to the genetic origin in some instances.

Methotrexate-induced leukoencephalopathy. A case report.

A six-year-old girl with non-Hodgkin's lymphoma who was treated with both intravenous (IV) and intrathecal (IT) methotrexate and developed brain damage secondary to the cytostatic drug is described. This patient displayed hypertension, hypothermia/hyperthermia, lethargy, deterioration and coma as clinical findings, and bilateral, focal white matter hyperintensities in the occipital lobes were seen in her magnetic resonance imaging (MRI). Treatment-related leukoencephalopathy is one such adverse effect of IT methotrexate administration on the central nervous system and usually appears in a generalized form.

Localization of the central sulcus and adjacent sulci in human: a study by MRI.

Variations in localization of the central sulcus and the sulci around the central sulcus namely the superior frontal sulcus, precentral sulcus, postcentral sulcus, marginal ramus of cingulate sulcus were studied in vertex sections retrospectively by magnetic resonance imaging (MRI) method in 3580 cases. Out of total number of cases, 1000 who did not show any macroscopic intracranial pathology were carefully selected for research. Additionally, 0-1 age group was excluded from the study because the sulci develop in first year of postnatal life, excluding the possibility of considering these as anatomical variations. Thus, the total number of cases is decreased to 990. 16 variations related to localization of the superior frontal sulcus, precentral sulcus, central sulcus, postcentral sulcus and the marginal ramus of the cingulate sulcus were identified. The asymmetries of the sulci, the most variable sulci and the distribution of the variations according to sex were statistically analysed.

Diffusion MR imaging features of skull base osteomyelitis compared with skull base malignancy.

BACKGROUND AND PURPOSE: SBO is a life-threatening infection that may have radiologic features similar to those of the neoplastic processes. The purpose of this study was to evaluate the DWI findings in SBO to facilitate the differential diagnosis. MATERIALS AND METHODS: The MR imaging findings of 9 patients with SBO were retrospectively evaluated and compared with MR imaging studies from 9 patients with NPC, 9 with lymphoma, and 9 with metastatic disease of the skull base. ADC measurements were performed from the ADC(ST) and the ADC(NST) in all 4 groups. RESULTS: The mean ADC(ST) values were 1.26 ± 0.19 × 10(-3) mm(2)/s for SBO, 0.74 ± 0.18 × 10(-3) mm(2)/s for NPC, 0.59 ± 0.11 × 10(-3) mm(2)/s for lymphoma, and 0.99 ± 0.34 × 10(-3) mm(2)/s for metastatic disease, respectively. The mean ADC value of SBO was significantly higher than those of NPC and lymphoma (P < .0001). There was no significant difference for the comparison of SBO and metastatic lesions. When an ADC value equal to or higher than 1.08 × 10(-3) mm(2)/s was used to rule out lymphoma and NPC, the accuracy was 96%. CONCLUSIONS: Although SBO is a relatively rare condition, its differential diagnosis from neoplastic processes of the skull base is essential to start appropriate treatment promptly. ADC values may help to distinguish patients with SBO from those with malignant lesions.