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A detailed description of a case study on chronic pain in the mandibles, caused due to two different processes, florid cemento-osseous dysplasia (FCOD) and chronic diffuse osteomyelitis (CDO), is presented.

Byline: Francesca Diomedi Camassei (1), Paola Francalanci (1), Fabio Ferro (2), Nicola Capozza (3), Renata Boldrini (1) Keywords: Key words: cystic dysplasia of rete testis, testicular tumor, renal malformations Abstract: Cystic dysplasia of the rete testis (CDT) is a rare congenital defect, characterized by multiple irregular cystic spaces in the mediastinum of the testis that may involve the whole gonad. A review of the literature has shown 32 reported cases, the majority of which were associated with ipsilateral renal malformations (agenesis/cystic dysplasia). Pathogenesis may be attributed to an early insult involving mesonephric duct development. Although treatment is surgical, when feasible, a conservative or nonoperative approach is suggested. Here we report two cases, one in a 3-year-old boy and one in a 10-day-old newborn. Concomitant cystic dysplasia of ipsilateral kidney was present in the former patient, while CDT was the solitary finding in the latter patient. Orchiectomy was performed in both patients, for extensive gonad involvement in the older boy and for suspected gonad torsion in the newborn patient. Author Affiliation: (1) Department of Pathology, 'Bambino Gesu' Children's Hospital (Research Institute), Piazza S. Onofrio 4, 00165 Rome, Italy, IT (2) Department of Pathology, Andrologic Surgery Unit, 'Bambino Gesu' Children's Hospital (Research Institute), Rome, Italy, IT (3) Department of Pathology, Urologic Surgery Unit, 'Bambino Gesu' Children's Hospital (Research Institute), Rome, Italy, IT Article note: Received May 19, 2001 accepted July 16, 2001.

Byline: Vikas R. Dharnidharka (1), E. Cristy Ruteshouser (3), Seymour Rosen (2), Harry Kozakewich (2), H. William Harris Jr. (1), John T. Herrin (1), Vicki Huff (3) Keywords: KeywordsaDenys-Drash syndrome; Diffuse mesangial sclerosis; Congenital nephrotic syndrome; Wilms tumor 1 gene; Pulmonary dysplasia Abstract: While a genetic basis for the association of developmental lung and kidney defects has been suspected, the involvement of specific genes in this process is under active investigation. We report such a possible genetic linkage present in identical twins with a mutant Wilms tumor (WT1) gene. Twin girls, born at 35 weeks gestation, manifested symptoms of congenital nephrotic syndrome, renal failure, and severe respiratory abnormalities refractory to assisted ventilation. Both died at 1 month of age. Renal biopsies and autopsy kidney tissue from both the girls revealed diffuse mesangial sclerosis (DMS). Autopsy lung tissue revealed pulmonary dysplasia and hypoplasia in both twins. The WT1 gene from renal tissue in both twins was analyzed for mutations using polymerase chain reaction (PCR) amplification and the single-strand conformation polymorphism (SSCP) technique. Both twins possessed an identical missense mutation in exon 8 of the WT1 gene, resulting in replacement of arginine by histidine at amino acid 366 (arg366his) in the WT1 protein. This mutation has previously been described in Denys-Drash syndrome. The WT1 gene plays a role in mesenchymal epithelial (ME) interactions in the developing urogenital system, and possibly has a similar role during lung morphogenesis. We propose that this WT1 gene mutation contributes to both DMS and developmental pulmonary abnormalities by altering ME interactions in both organs. Author Affiliation: (1) Division of Nephrology, Department of Pediatric Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA, US (2) Department of Pathology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA, US (3) Division of Pediatrics, University of Texas MD Anderson Medical Center, Houston, Texas, USA, US (4) Division of Pediatric Nephrology, Shands Children's Hospital and University of Florida Health Science Center, PO Box 100296, 1600 SW Archer Road, Gainesville, FL 32610-0296, USA e-mail: vikasmd@peds.ufl.edu Tel.: +1-352-392-4434, Fax: +1-352-392-7107, US Article note: Received: 13 June 2000 / Revised: 1 November 2000 / Accepted: 2 November 2000

The brain begins its development as the neural tube, proliferating cells along this tube migrate to take up their proper locations within the developing brain. This results in an 'inside-out' process of development in which new brain cells are formed in the middle of the brain, and migrate out through the brain tissues before they reach their correct location. This process does not always work properly, and several distinct brain abnormalities appear to result from disordered neuronal migration. These disorders can be collectively called neuronal migration disorders( NMDs). One NMD is lissencephaly, in which the brain is smooth, failing to develop the normal pattern of convolutions or gyri. Such patients are profoundly retarded and usually die before two years of age. Another NMD, one with a more mild outcome, is the so-called 'double cortex' syndrome. In this condition, some of the migrating brain cells fail to reach their proper destination on the surface of the brain. These brain cells do not die, but try to fulfill their destiny in the wrong location, beneath the mantle of properly located cortex. In the brains of such patients a cell-rich layer of tissue, or grey matter, can be seen beneath the cerebral cortex, an area in which only myelinated nerve fibers, or white matter, is normally located. It is this second anomalous layer of grey matter that is responsible for the term 'double cortex'. Patients with double cortex are usually retarded, though the syndrome is compatible with a normal lifespan. Patients with double cortex syndrome are commonly affected by epilepsy as well. In the past, double cortex syndrome was observed only at autopsy. The advent of modern imaging techniques has made it possible to identify cases of double cortex syndrome among living patients. Since the presence of double cortex syndrome would affect decisions on the most appropriate treatment for epilepsy in some patients, the indications of double cortex syndrome on magnetic resonance imaging (MRI) or computed tomography (CT) should be recognized. (Consumer Summary produced by Reliance Medical Information, Inc.)

Most of the outer surface of the brain consists of cerebral cortex, a thin layer of brain cells and complex interconnections critical to most higher brain functions. Upon gross examination, the cerebral cortex is highly folded in a typical pattern of convolutions called gyri separated by grooves called sulci. Under the microscope, the cerebral cortex is a very highly organized structure consisting of six layers. Cortical dysplasia is a condition in which the normal cellular architecture of the cortex is disturbed by the presence of an increased number of large abnormal neurons. In such cases, the normal six-layered structure is disrupted. Similar large, abnormal neurons may be seen in the white matter underlying the cerebral cortex. It is believed that these neurons represent an abnormality arising in early development and subsequently fail to migrate successfully to their appropriate location as adult brain cells. In most cases of cortical dysplasia, however, a microscope is not necessary to detect that there is an abnormality present. In most cases of cortical dysplasia, it is evident that the normal gyral pattern of the brain is disturbed, sometimes resulting abnormally broad gyri, and sometimes in too many very small gyri. Three cases are presented that illustrate cortical dysplasia may be present in brains that appear normal on gross examination. The patients died at 10 months, and 3 and 7 years of age. All three patients had seizures and showed severe developmental defects. The seven-year old was only able to say about five simple words at the peak of his development. By the time he died of a respiratory tract infection, he was unresponsive to loud noises. No apparent malformations of the gyral pattern were evident in these brains. When the patients' brains were examined at autopsy, abnormally thickened areas of cerebral cortex were present, and microscopic examination showed disorganization of the normally six-layered cortex and abnormal large neurons. (Consumer Summary produced by Reliance Medical Information, Inc.)

Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. Keywords Osteochondroma * Apophysis * Epiphysis * MRI * Dysplasia * Epiphysealis hemimelica

Byline: V. Smolkin (1), Raphael Halevy (1), Ariel Koren (1) Keywords: KeywordsaRenal dysplasia-hypoplasia; Chronic renal failure; Nephrotic syndrome; Steroid responsive nephrotic syndrome; Focal segmental glomerulosclerosis Abstract: Renal dysplasia is characterized by hypoplastic kidneys that contain elements of primitive tubules. Patients may develop end-stage renal failure early in life. Nephrotic syndrome is one of the most common renal diseases in childhood and may occur in association with renal dysplasia. We report a case of a child with bilateral dysplastic kidneys and steroid responsive nephrotic syndrome (SRNS). An association between renal dysplasia with chronic renal failure and SRNS has not previously been reported in the English literature. Author Affiliation: (1) Pediatric Nephrology Unit and Pediatric Department B, Ha'Emek Medical Center, Afula, 18101, Israel e-mail: vlsmolkin@yahoo.com Tel.: +972-4-6524152, Fax: +972-4-6525589, IL (2) The Baruch Rappaport School of Medicine, Technion, Israel Institute of Technology, Haifa, Israel, IL Article note: Received: 15 February 2000 / Revised: 29 January 2001 / Accepted: 29 January 2001