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Phytate, a salt of phytic acid (myo-inositol 1,2,3,4,5,6-hexakisphosphate), is found in certain plant-based foods. It strongly chelates minerals, forming insoluble complexes in the small intestine that cannot be digested or absorbed. Information on the phytate content of rice-based diets of children in Northeast Thailand is limited. In this study 1-day weighed duplicate diet composites were collected from 40 Northeast Thai children (age 6-13 years) randomly selected from participants (n =567) of an efficacy trial in Ubon Ratchathani province. Diet composites were analyzed for zinc, iron, and calcium by atomic absorption spectrophotometry, and for phytate (as inositol penta-phosphate and hexa-phosphate) by high-performance liquid chromatography; the accuracy and precision were established using a certified reference material for the minerals and an inter-laboratory comparison for phytate. The median (1st, 3rd quartiles) zinc, iron, and calcium contents of the diet composites were 4.3 (3.7, 6.1), 4.3 (3.2, 6.5) and 130 (82, 216) mg/day, respectively. The inositol penta-phosphate and hexaphosphate levels were so low they were below the detection limit, attributed in part to leaching of water-soluble potassium and magnesium phytate from glutinous rice after soaking overnight before cooking. Clearly, phytate will not compromise mineral absorption from these diets. Instead, low zinc intakes are probably primarily responsible for the low zinc status of these children. In contrast, although intakes of dietary iron appear low, the prevalence of biochemical iron deficiency was also low, suggesting that iron absorption may have been higher than previously assumed. Whether the low calcium intakes compromise optimal bone health in these growing Northeast Thai school children is unknown. Keywords: Food, minerals, micronutrients, bioavailability, phytate, rice, Thailand, deficiency

Byline: Maria S. Correa-Rivas (1), Isabel Matos-Llovet (1), Lourdes Garcia-Fragoso (2) Keywords: ectopia cordis; pentalogy; Cantrell; thoracoabdominal schisis; cleft lip/palate; midline defects Abstract: We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus. We present this case because of its rarity and discuss the pathologic findings. Author Affiliation: (1) Department of Pathology and Laboratory Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR, 00936-5067, USA (2) Department of Pediatrics, Neonatology Division, University of Puerto Rico, Medical Sciences Campus, San Juan, PR, 00936-5067, USA Article History: Registration Date: 01/01/2004 Received Date: 20/09/2002 Accepted Date: 17/06/2004 Online Date: 06/12/2004

Byline: Sima M. Jain (1), Stanton Wesson (1), Ashraf Hassanein (2), Erica Canova (1), Miranda Hoy (1), Robert S. Fennell (3), Vikas R. Dharnidharka (3,4) Keywords: Nephrogenic fibrosing dermopathy; Renal failure Abstract: Nephrogenic fibrosing dermopathy (NFD) is a rare and recently recognized sclerosing skin disorder of unknown etiology. Reported cases have occurred in patients with chronic renal failure, with or without renal replacement therapy. All previous cases have been reported in older adult patients. We describe two pediatric patients who recently developed this condition and review the existing literature for NFD. Our patients included an 8-year-old boy on peritoneal dialysis with no prior renal transplant and a 19-year-old boy on hemodialysis with a history of previous failed renal transplants. We speculate that the recent emergence of this condition and occurrence in patients with chronic renal failure suggest an association with some newer pharmacological agent that has recently come into wide use. Since both our patients also had previously experienced large vessel thrombosis, hypercoagulable states may also be implicated. Author Affiliation: (1) Division of Dermatology, Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA (2) Department of Pathology, University of Florida College of Medicine, Gainesville, Florida, USA (3) Division of Pediatric Nephrology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA (4) Division of Pediatric Nephrology, University of Florida Health Science Center, PO Box 100296, Gainesville, FL 32610--0296, USA Article History: Registration Date: 19/11/2003 Received Date: 15/08/2003 Accepted Date: 06/11/2003 Online Date: 10/02/2004 Article note: Sima M. Jain and Stanton Wesson contributed equally to this report

Byline: Y. Kaneko (1), Y. Hirata (1), K. Yagyu (1), H. Yoda (1), K. Tsuchiya (1) Keywords: Congenital heart disease; Cardiac development; Neural crest; Cardinal vein; Pulmonary vein; Levoatriocardinal vein Abstract: We present a case of congenital pulmonary systemic collateral vein associated with truncus arteriosus. Pulmonary systemic collateral vein with nonobstructed left atrial egress is different from those with obstructed left atrial egress in that it is functionally redundant. Including this case, 8 patients among 33 reported cases with pulmonary systemic collateral veins have had nonobstructed left atrial egress. Association with conotruncal anomalies in 4 of these 8 patients, as well as the reported finding that neural crest cells are distributed not only in the conotruncus but also in the cardinal vein, indicates that neural crest cells play roles in remodeling of the systemic venous system. Author Affiliation: (1) Departments of Cardiovascular Surgery, Neonatology, and Pediatrics, Japanese Red Cross Medical Center, 4-1-22 Hiroo, Shibuya-ku, Tokyo 150-8935, Japan Article History: Registration Date: 01/01/2002 Online Date: 29/07/2003

Byline: Dinesh Rakheja (), Yin Xu (), Dennis K. Burns (), Daniel L. Veltkamp (), Linda R. Margraf () Abstract: Cystic fibrosis (CF), an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is not generally associated with malformations of the central nervous system (CNS). This report describes two African-American children who died at less than 2 years of age with known Chiari I malformations and were found, unexpectedly at autopsy, to have the classic pancreatic and respiratory changes of CF. Both patients had suffered from failure to thrive that had been attributed to their CNS malformations. One child also had recurrent pneumonia and died with Pseudomonas sepsis. Mutational analysis for &gt 70 common CFTR mutations identified a single delta F508 mutation in one patient and a single 3120+1G to A mutation in the other. Their second CFTR mutations were not identified. The association of CF with Chiari I malformation is not likely to be purely coincidental, as the probability of such an occurrence in African-Americans is greater than one in 7,500,000 patients. It is possible that the CFTR gene may play a previously unrecognized role in CNS development. Alternatively, this CNS abnormality may be acquired due to the metabolic and electrolyte imbalances that characteristically occur in CF. Author Affiliation: () Department of Pathology, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, TX 75390-9073, USA, US () Department of Radiology, University of Texas Southwestern Medical School and Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USA, US () Department of Pathology, Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USA, US Article History: Received Date: 18/02/2002 Accepted Date: 15/09/2002

Byline: D. Ashley Hill (), Shannon E. Riedley (), Anami R. Patel (), Sheila A. Shurtleff (), Jennifer Hyer (), Alvida M. Cain (), Catherine A. Billups (), James R. Downing (), Alberto S. Pappo () Abstract: Synovial sarcoma is the most common nonrhabdomyosarcomatous soft tissue sarcoma in children and adolescents and is characterized by a reciprocal t(X 18)(p11 q11) which results in the fusion of the SYT gene on chromosome 18q11 to either of two closely related genes, SSX1 (Xp11.23) or SSX2 (Xp11.21). Detection of this translocation or its resultant gene fusion by molecular methods is helpful in the pathologic diagnosis of synovial sarcoma, especially in poorly differentiated tumors. This study was designed to evaluate the utility of a real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay to detect and distinguish SYT-SSX1 and SYT-SSX2 fusions in fresh and archival specimens of synovial sarcoma in pediatric patients seen at St. Jude Children's Research Hospital. In addition, the clinicopathologic features of the tumors with SYT-SSX1 vs. SYT-SSX2 fusions were compared. The 25 patients studied had a median age of 13 years 9 months (range 5 to 19 years). Estimates of survival and event-free survival at 5 years were 78.7 +- 10.5% and 56.2 +- 13.2%, respectively. Seventeen (68%) tumors were monophasic, eight (32%) were biphasic. Seven tumors contained poorly differentiated areas. Positive results for either SYT-SSX1 or SYT-SSX2 were obtained in 21/25 (84%) cases. Three cases did not have a detectable gene fusion and one had no amplifiable RNA. SYT-SSX1 transcripts were found in 18/24 (75%) of the tumors while SYT-SSX2 transcripts were identified in 3/24 (12.5%). All of the poorly differentiated tumors and seven out of eight tumors from patients who developed lung metastases had an SYT-SSX1 fusion transcript. Real-time PCR is useful in detecting and distinguishing SYT-SSX1 from SYT-SSX2 gene fusions in synovial sarcoma. Valuable aspects of this methodology are the applicability to both frozen and formalin-fixed samples, decreased labor costs, and the rapidity of results. In addition, distinguishing SYT-SSX1 from SYT-SSX2 fusions with these methods allow for prospective collection of information that may clarify issues of prognostic relevance. Author Affiliation: () Department of Pathology, St. Jude Children's Research Hospital, 332 N. Lauderdale Street, Memphis, TN 38105, USA, US () Department of Hematology--Oncology, St. Jude Children's Research Hospital, 332 N. Lauderdale Street, Memphis, TN 38105, USA, US () Department of Biostatistics, St. Jude Children's Research Hospital, 332 N. Lauderdale Street, Memphis, TN 38105, USA, US Article History: Received Date: 29/04/2002 Accepted Date: 29/09/2002

Byline: Ricardo Drut (), Rosa Monica Drut () Abstract: Testicular microlithiasis (TM) is being recognized with increasing frequency because of the extensive use of ultrasound. TM has been linked to several pathological conditions of the testis, mainly with an increased risk for developing germ cell tumors. The pathogenesis of the microcalcospherites is unknown. We report a detailed morphologic and immunohistochemical analysis of 11 patients (age: 3 to 15 years) with TM. The microliths were related neither to the age of the children nor to the developmental stage of the testis. The microcalcospherites were PAS positive or collagen IV positive or surrounded by a collagen IV--positive band, extratubular structures consistently associated with double-layered annular tubules. Immature, smaller Sertoli cells commonly lined the inner layer of the annular tubules. Some microcalcospherites showed an interposed thin band of connective tissue cells between the concretion and the tubular basement membrane. The annular tubules seemed to result from progressive wrapping of the growing tubules around the concretions. Our findings favor the interpretation that the microliths are located outside the tubules and have been present there since very early stages of testicular development. The association of the calcospherites with Sertoli cells and annular tubules formation, like that of gonadal stromal tumor with annular tubules of the ovary and large cell--calcifying Sertoli cell tumor of the testis, favors the hypothesis that microliths may result from multifocal Sertoli cell dysfunction. Since both tumors are related to the Peutz-Jeghers syndrome, it is proposed that TM may result from the same genetic abnormalities. It is unclear how this may be related to the development of germ cell tumors. However, the presence of calcospherites in gonadoblastoma may indicate a combined Sertoli cell and germ cell derangement in the genesis of TM. Author Affiliation: () Department of Pathology, Hospital de Ninos 'Superiora Sor Maria Ludovica', 1900 La Plata, Buenos Aires, Argentina, AR Article History: Received Date: 29/01/2002 Accepted Date: 08/07/2002

Byline: Blaise E. Favara (1), Ronald Jaffe (3), R. Maarten Egeler (5) Keywords: Key words: histiocytosis, Langerhans cell histiocytosis, hemophagocytic syndrome, pediatric Abstract: Macrophage activation and secondary hemophagocytic syndrome are rarely reported in association with Langerhans cell histiocytosis (LCH). The authors reviewed their pathology files for cases of LCH in which evidence of macrophage activation coexisted and report 30 such cases indicating that the association is not that rare and may even be underdiagnosed unless specifically sought. Available clinical data were collected and correlated with pathological findings. Of the 30 cases of LCH with varying degrees of macrophage activation, 29 had multisystem disease. The cases were graded from I to V on the basis of evidence for, and severity of, macrophage activation cases in category I had evidence of fully developed hemophagocytic syndrome whereas those in category V had limited evidence of macrophage activation. There were seven cases with fully developed hemophagocytic syndrome (category I) and an additional five with hemophagocytosis and some but not all of the features of hemophagocytic syndrome (category II). Most of these 12 cases were young children with high-risk LCH and poor prognosis 4 are known to have died. Coexisting hemophagocytic syndrome in these cases of LCH may have contributed to their poor prognosis. The association of LCH with macrophage activation, though more than coincidental, is of unknown pathogenesis, but the role of T lymphocytes and cytokines is prominent in both disorders and is presumed to link the two. Author Affiliation: (1) Rocky Mountain Laboratories, Laboratory for Persistent Viral Diseases, National Institute of Health, 901 S. 4th Street, Hamilton, MT 59840, USA, US (2) Department of Pathology, University of Utah, Salt Lake City, Utah, USA, US (3) Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA, US (4) Department of Pathology, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA, USA, US (5) Departments of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation and Autoimmune Diseases, Leiden University Medical Center, Leiden, The Netherlands, NL (6) Southern Alberta Children's Cancer Program, Alberta Children's Hospital/Tom Baker Cancer Centre, Alberta, Canada, CA (7) Department of Oncology and Pediatrics, University of Calgary, Calgary, Alberta, Canada, CA Article note: Received September 25, 2001 accepted October 2, 2001.

Byline: Samir B. Kahwash (1), Stephen J. Qualman (1) Keywords: Key words: precursor B-lymphoblastic lymphoma, skin, bones Abstract: Precursor B lymphoblastic lymphomas (B-LBL) are generally rare, but appear to have a higher incidence in children than in adults. In this report, we describe in detail six cases of B-LBL presenting with cutaneous lesions. Three occurred in the scalp, one in the skin of the thigh, one in the skin of the face and breast, and one in the subcutaneous tissue of the orbit. All six patients are females ranging in age at presentation from 5 to 15 years (mean = 9.6). None of the cases had bone marrow involvement, while two had bone involvement (maxilla, distal tibia, and distal humerus in one case, and distal tibia and orbital bone in another case) only one case had lymphadenopathy (retroperitoneal). Immunohistochemical staining showed positivity for CD79a and CD43 in all six cases. LCA and L26 positivity were also each seen in one case. Staining for MIC-2 (CD99) showed strong positivity in three cases. Vimentin was positive in four cases and TdT was positive in all five patients tested. Staining for keratin, UCHL-1, or CD30 was not encountered. Cases in which cell marker studies by flow cytometry were performed showed positivity for CD10, CD19 with negative CD20, pan-T-cell, and myeloid markers. The five patients who received multiagent chemotherapy are alive with follow-up intervals of 2 to 18 years. Two patients had local recurrences and were given radiation therapy (one with repeating multiagent chemotherapy). One patient (diagnosed in 1962) died of disseminated disease she had been treated with radiation therapy and 6MP only. Cutaneous B-LBL must be included in the differential diagnosis of small blue cell tumors, especially in children. In contrast to its T-cell counterpart, B-LBL occurs more frequently in females, tends to present as skin or bone lesions, and is associated with a potential cure, even in cases that relapse. Author Affiliation: (1) Department of Laboratory Medicine, Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA, US Article note: Received June 25, 2001 accepted September 4, 2001.

Byline: Prasanna Sinkre (1), Arie Perry (2), Dan Cai (2), Ravi Raghavan (1), Mark Watson (1), Kathleen Wilson (1), Beverly Barton Rogers (1) Keywords: Key words: chromosome 22, fluorescence in situ hybridization, meningioangiomatosis, meningioma Abstract: We report a case of juxtaposed atypical meningioma and meningioangiomatosis (MA) in an 8-year-old boy with no clinical stigmata or family history of neurofibromatosis. We studied the proliferative activity and genetic changes in the two lesions in an attempt to define their biologic and pathogenetic relationships. The MIB-1 index was 11% in the meningioma and &lt 1% in the MA, indicating increased proliferative activity in the meningioma. Fluorescence in situ hybridization was done for two chromosomal regions commonly deleted in meningiomas. There was loss of the neurofibromatosis 2 locus (22q12) in both the meningioma and MA. Conversely, the region of 1p32 was not deleted. Our results indicate that both the meningioma and MA arose from the same clonal process, with the meningioma probably undergoing additional, but undefined, genetic alterations that confer upon it a more proliferative potential. This loss of 22q12 in the MA raises doubt about the presumed hamartomatous nature of MA. Author Affiliation: (1) Department of Pathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA, US (2) School of Medicine and Immunology, Washington University, Campus Box 8118, 660 S. Euclid Avenue, St. Louis, MO 63110, USA, US Article note: Received February 7, 2001 accepted May 21, 2001.

Byline: Angelica Oviedo (1), Todd Simmons (2), Ellen Benya (3), Frank Gonzalez-Crussi (1) Keywords: Key words: bizarre parosteal osteochondromatous proliferation, exostosis, osteochondroma, parosteal osteosarcoma Abstract: Bizarre parosteal osteochondromatous proliferation of bone (BPOP) is a benign lesion that is occasionally misinterpreted as a malignant process. The original reports described lesions exclusively in the hands and feet. However, subsequent reports have included additional sites in the long bones, skull, and maxilla. The differential diagnosis of BPOP includes numerous benign and malignant lesions. The benign differential diagnosis includes osteochondroma and reactive processes. The most important malignant differential diagnosis is parosteal osteosarcoma. We present a case of an 11-year-old boy with recurrent BPOP and review the literature. We discuss the differential diagnosis and pathogenesis of the lesion. Author Affiliation: (1) Department of Pathology, Children's Memorial Hospital, 2300 Children's Plaza MB 17, Chicago, IL 60614, USA, US (2) Department of Orthopedic Surgery, Children's Memorial Hospital, 2300 Children's Plaza MB 69, Chicago, IL 60614, USA, US (3) Department of Radiology, Children's Memorial Hospital, 2300 Children's Plaza MB 9, Chicago, IL 60614, USA, US (4) Northwestern University Medical School, 303 E. Chicago, Chicago, IL 60611, USA, US Article note: Received September 15, 2000 accepted March 15, 2001.

Byline: Ryuji Fukuzawa (1), Akihiro Umezawa (1), Yukihiko Morikawa (2), Kyong Chang Kim (3), Toshiro Nagai (4), Jun-ichi Hata (1) Keywords: Key words: Beckwith-Wiedemann syndrome, mixed hamartoma of the liver, nesidioblastosis, uniparental disomy, H19, insulin-like growth factor 2 Abstract: An infant with persistent hyperinsulinemic hypoglycemia, diffuse nesidioblastosis, and mixed hamartoma of the liver (MHL), in addition to demonstrating clinical, pathologic, and molecular manifestations of Beckwith-Wiedemann syndrome (BWS), is the subject of this report. H19 methylation assay and allelic expression analysis for insulin-like growth factor 2 (IGF2) indicated that the patient was mosaic for paternal isodisomic cells and normal cells in lung tissue, nontumoral liver tissue, tissue from the MHL, and pancreatic tissue. We propose that abundant IGF2 expression during development due to paternal isodisomy resulted in hepatomegaly and islet cell hyperplasia, which led to nesidioblastosis. MHL, by contrast, may have resulted from a decrease in disomic cells, compared with nontumoral liver tissue, which showed an increase in disomic cells. Thus, somatic mosaicism may result in unbalanced tissue growth, which may contribute to the formation of MHL in BWS. Author Affiliation: (1) Department of Pathology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan, JP (2) Department of Pathology, Tokyo Metropolitan Kiyose Children's Hospital, 1-3-1 Umezono, Kiyose-shi, Tokyo 204-0024, Japan, JP (3) Department of Neonatology, Tokyo Metropolitan Kiyose Children's Hospital, 1-3-1 Umezono, Kiyose-shi, Tokyo 204-0024, Japan, JP (4) Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, 2-1-50 Minamikoshigaya, Koshigaya-shi, Saitama 343-0845, Japan, JP Article note: Received February 25, 2000 accepted October 19, 2000.

Byline: Virpi V. Smith (1), Marian Malone (1), R. Anthony Risdon (1) Keywords: Key words: endocrine pancreas, intraoperative diagnosis, nesidioblastosis, persistent hyperinsulinemic hypoglycemia of infancy Abstract: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) results from defects of regulated insulin release from pancreatic [beta] cells and is often refractory to medical treatment. Histological changes in the pancreas associated with PHHI may be focal or diffuse, and the intraoperative confirmation and siting of focal lesions would require frozen section diagnosis. The recognition of focal involvement and its distinction from diffuse disease by frozen section depends on the identification and distribution pattern of islet cells with large hyperchromatic nuclei. This study was designed to test the feasibility of using this parameter in PHHI to delineate focal from diffuse diseases prior to the introduction of frozen sections to guide intraoperative management in our institution. A total of 66 coded and randomized paraffin sections (from 18 PHHI and 4 postmortem pancreases) were scored by three independent observers into the following categories: a focal lesion (A), no large endocrine nuclei (B), few large endocrine nuclei (C), and frequent large endocrine nuclei (D). Interobserver concordance was complete in 88%, but there were minor discrepancies in the remaining 12%. When a focal lesion was present in one section no large endocrine nuclei were seen in sections from the rest of the pancreas. In four patients with diffuse PHHI, no or only very scanty large endocrine nuclei were seen. From this finding, and the observation that in other examples of diffuse disease, large endocrine nuclei were sparse even in large paraffin sections, we have reservations about using small frozen sections for reliable diagnosis. Author Affiliation: (1) Department of Histopathology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, WC1N 3JH, UK, GB Article note: Received January 31, 2000 accepted May 2, 2000.

Byline: Alberto Zagury (1), Joao Goncalves Barbosa Neto (2) Keywords: KeywordsaCarpotarsal osteolysis; Nephropathy; Sporadic form Abstract: Idiopathic carpotarsal osteolysis is characterized by gradual lysis and resorption of bones, occurring mainly on hands and feet. It may be sporadic or hereditary and either form can manifest renal involvement. Nephropathy is seen more frequently and is more severe in the sporadic form. We present herein two new cases of unrelated boys with the sporadic form associated with nephropathy. One of the patients had focal segmental glomerulosclerosis. The other patient revealed isolated proteinuria. Author Affiliation: (1) Department of Pediatric Nephrology, Hospital de Bonsucesso, Ministerio da Saude, Rio de Janeiro, Brazil, BR (2) Escola Nacional de Saude Publica, Fundacao Oswaldo Cruz, Rio de Janeiro, Brazil, BR (3) Av. Epitacio Pessoa 3964 apto 501, CEP 22471-001, Rio de Janeiro, RJ, Brazil e-mail: azagury@highway.com.br Tel.: +55-21-5390576, Fax: +55-21-5486225, BR Article note: Received: 24 March 2000 / Revised: 21 September 2000 / Accepted: 23 September 2000

Byline: Andrew H. Chang (1), Walter E. Kaufmann (1), Daniel J. Brat (4) Keywords: Key words: cerebellum, ectopic, development, histogenesis Abstract: A 4-month-old infant with a history of nasopharyngeal teratoma developed progressive optic neuropathy. Neuroimaging studies demonstrated a solid, isointense, suprasellar mass impinging on optic nerves and chiasm superiorly. The mass was subtotally resected. No attachment of the mass to brain stem or cerebellar structures was noted. Histological examination identified the tissue as developing cerebellum. The cytoarchitecture and cellular constituents of the cerebellar tissue were only slightly distorted. All cerebellar cortical constituents were arranged anatomically, and an external granular cell layer was present superficially. The latter was actively proliferating and appropriately cellular for the infant's age. The clinical presentation of ectopic cerebellum as a suprasellar mass in an infant is highly unusual. Moreover, this example illustrates the ability of cerebellar tissue to mature appropriately in a site distant from the posterior fossa, removed from ascending and descending afferent projections. Intrinsic signaling mechanisms appear sufficient to direct histogenesis in developing cerebellar cortex. Author Affiliation: (1) Department of Pathology, Johns Hopkins University Medical School, 600 N. Wolfe Street, Baltimore, MD 21287, USA, US (2) Departments of Neurology, Pediatrics, and Psychiatry, 600 N. Wolfe Street, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA, US (3) Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD 21205, USA, US (4) Department of Pathology and Laboratory Medicine, Emory University School of Medicine, H-190, 1364 Clifton Road, NE, Atlanta, GA 30322, USA, US Article note: Received October 26, 1999 accepted January 11, 2000.

Byline: Hiroshi Hojo (1), Sayuri Suzuki (1), Atushi Kikuta (2), Masaki Ito (2), Masafumi Abe (1) Keywords: Key words: neuroblastoma, sarcoid reaction, lymphocyte phenotype, immunohistochemistry Abstract: We present a unique case of a 9-month-old infant with a left adrenal neuroblastoma with sarcoid reaction, detected by mass screening. There was no clinical evidence indicating systemic sarcoidosis or pulmonary mycobacterial infection. Histological examination of the resected adrenal tumor revealed many noncaseating epithelioid granulomas with lymphocytic infiltrate, composed of epithelioid cells and few giant cells, arising in tumor parenchyma and fibrovascular stroma. Most of the lymphocytes in the granulomas were CD3- or CD45RO-positive T cells, with fewer being CD20-positive B cells. The lymphocytes in the epithelioid granulomas expressed CD4 or CD8, but not CD56 and CD57. CD4-positive cells were observed more within the granulomas (internal area) than in the surrounding area (external area) of the same granulomas, while most of the CD8-positive cells were seen consistently at the outer margin of the granulomas (marginal zone). CD45RA-positive T cells were observed predominantly in the external area. The results of immunostaining demonstrated that lymphocytes in granulomas of this case showed the same distribution pattern as that seen in systemic sarcoidosis. Although the sarcoid reaction is a phenomenon known to be associated with the region of cancer, granuloma within the primary neuroblastoma is extremely rare. The sarcoid reaction in the present case of neuroblastoma may be associated with a delayed-type hypersensitivity reaction, and its significance and relevance still remain obscure. Author Affiliation: (1) 1st Department of Pathology, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan, JP (2) Department of Pediatrics, School of Medicine, Fukushima Medical University, 1 Hikariga-oka, Fukushima, 960-1295, Japan, JP Article note: Received September 9, 1998 accepted October 21, 1999.

Byline: Virpi V. Smith (1), Amanda J. Williams (2), Vas Novelli (2), Marian Malone (1) Keywords: Key words: cytomegalovirus, colitis, enteritis, human immunodeficiency virus, infants, leiomyolysis Abstract: We report two infants with the acquired immunodeficiency syndrome (AIDS) and rectal bleeding due to cytomegalovirus (CMV) ileitis and colitis with minimal focal mucosal ulceration but with extensive leiomyolysis of the muscularis propria. Immunostaining and in situ hybridization for CMV showed numerous viral inclusions in the myocytes of the muscularis propria and vascular endothelium/smooth muscle with only occasional inclusions present in the muscularis mucosae. Colectomy was curative in one patient in the other the bowel was only examined at postmortem. Author Affiliation: (1) Department of Histopathology, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK, GB (2) Department of Infectious Diseases, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK, GB Article note: Received May 14, 1999 accepted October 21, 1999.

Byline: Keshani de Silva (1), Vivienne Tobias (1), Gad Kainer (2), Bruce Beckwith (3) Keywords: Key words: end-stage kidney, dialysis, embryonal hyperplasia of Bowman's capsular epithelium, renal adenoma Abstract: We report a case of a 9-year-old boy with focal, segmental glomerulosclerosis who, following peritoneal dialysis, underwent renal transplantation and bilateral nephrectomy. The kidneys showed histological features of embryonal hyperplasia of Bowman's capsular epithelium, an uncommon lesion that is seen most often in patients with chronic renal failure who are being maintained on dialysis. In addition, a 1-cm tumor in the left kidney showed features of metanephric adenoma. Although both lesions are uncommon, they share many similarities on a morphological, immunohistochemical, and ultrastructural basis. This association has not been previously reported and may shed some light on the histogenesis of these recently described lesions. Author Affiliation: (1) Department of Anatomical Pathology, South Eastern Area Laboratory Service at Sydney Children's Hospital, Sydney, New South Wales 2031, Australia, AU (2) Department of Renal Medicine, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia, AU (3) Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA, US Article note: Received September 1, 1998 accepted August 25, 1999.

Byline: Randall D. Craver (1), Joseph Nadell (2), James S. Nelson (1) Keywords: Key words: desmoplastic infantile ganglioglioma, microtubule associated protein-2, neuron specific B-tubulin Abstract: We present the clinical, anatomic, and laboratory findings in a 4-month-old child with desmosplastic infantile ganglioglioma. Microtubule-associated protein-2 (AP18) and neuron-specific B-tubulin (TUJ-1) were more sensitive in detecting immature neural elements than synaptophysin. Despite the immature neuroblastic component, focal intermediate proliferation indices, microinvasion, presence of secondary features (extension into Virchow Robin spaces, perineuronal satellitosis), and subtotal resection, the child has done well, with striking improvement of the magnetic resonance imaging (MRI) image, head size improvement, no tumor recurrence, and minimal neurological deficits. Author Affiliation: (1) Department of Pathology, Louisiana State University Medical Center and New Orleans Children's Hospital, 200 Henry Clay Avenue, New Orleans, LA 70118, USA , US (2) Department of Neurosurgery, New Orleans Children's Hospital, 200 Henry Clay Avenue, New Orleans, LA 70118, USA , US Article note: Received November 25, 1998 accepted February 10, 1999.

Byline: Michael J. Bennett (1), Sheila D. Spotswood (3), Karen F. Ross (3), Susan Comfort (1), Robert Koonce (4), Richard L. Boriack (4), Lodewijk IJlst (5), Ronald J.A. Wanders (5) Keywords: Key words: mitochondrial [beta]-oxidation, hydroxyacyl-coenzyme A dehydrogenase, spinal muscular atrophy, Werdnig-Hoffman disease, sudden infant death Abstract: This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids. Candidate subjects were identified from an ongoing study of infant deaths. SCHAD analysis was performed on previously frozen liver and skeletal muscle on subjects with a characteristic urine organic acid profile. Autopsy findings were correlated with the biochemical abnormalities. Enzyme analysis in liver revealed marked deficiency in SCHAD with residual activities of 3--11%. All subjects had normal activity in skeletal muscle. However, Western blot analysis of SCHAD revealed an identical truncated protein in both liver and muscle from one patient, suggesting that SCHAD is similar in liver and muscle and that the normal activity in muscle may be due to other enzymes with C4 activity. Autopsy findings revealed marked steatosis and a muscle pattern consistent with spinal muscular atrophy in one patient. Lipid storage was less pronounced in one patient and not detected in the third patient who had a well-documented history of recurrent hypoglycemia. This is the initial pathological characterization of this enzyme defect, and our observations suggest that SCHAD deficiency is a very severe disorder contributing to early infant death. Author Affiliation: (1) Department of Pathology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235, USA , US (2) Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75235, USA , US (3) Southwestern Institute of Forensic Science, 5323 Harry Hines Boulevard, Dallas, TX 75235, USA , US (4) Department of Pathology, Children's Medical Center of Dallas, 1935 Motor Street, Dallas, TX 75235, USA , US (5) Laboratory of Genetic Metabolic Disease, University Hospital, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands , NL Article note: Received March 20, 1998 accepted August 7, 1998.

Byline: Elizabeth Petri Henske (1), Paul Thorner (2), Kathleen Patterson (3), Zhengping Zhuang (4), Jay Bernstein (5) Keywords: Key words: renal cell carcinoma, polycystic kidney, tuberous sclerosis, von Hippel-Lindau disease Abstract: We report the clinical, pathologic, and genetic features of renal malignancy in two children with diffuse cystic hyperplasia. Both presented with massive bilateral nephromegaly. Neither had a family history or clinical findings suggestive of tuberous sclerosis or von Hippel--Lindau disease. The kidneys of both children were extensively replaced by tubulocystic hyperplasia with large eosinophilic epithelial cells. The masses of hyperplastic tissue were nodular, compressing remnants of uninvolved renal parenchyma. Tubulopapillary carcinoma was present in both children, one of whom had bilateral multicentric carcinoma. No loss of heterozygosity was detected in the tumors at the TSC1, TSC2, or VHL gene regions, and no alterations in the VHL gene were detected using single-strand conformation polymorphism analysis. These cases of bilateral renal enlargement with diffuse cystic hyperplasia appear to represent a new clinical syndrome that may warrant bilateral nephrectomy because of the risk of malignancy. Author Affiliation: (1) Department of Medical Oncology, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia, PA 19111, USA , US (2) Department of Pediatric Laboratory Medicine, Division of Pathology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8 , CA (3) Department of Pathology, Children's Hospital and Medical Center, 4800 Sandpoint Way NE, Seattle, WA 98105, USA , US (4) Department of Pathology, National Cancer Institute, 9000 Rockville Pike, Bethesda, MD 20892, USA , US (5) William Beaumont Research Institute, 3601 West 13 Mile Road, Royal Oak, MI 48073-6769, USA , US Article note: Received February 13, 1998 accepted May 8, 1998.

Byline: David O'Neill (1), James A. Morecroft (2), Alan T. Gibson (3), Peter D. Bull (4), Jenny Walker (2) Keywords: Key words: tracheal agenesis, segmental esophageal agenesis, crossed renal ectopia, multiple abnormalities Abstract: We describe the clinical presentation and pathological features of an unusual case of tracheal agenesis. The axial derivatives of the primitive foregut between the larynx and stomach were represented by a single structure featuring sequential segmentation into regions showing exclusively tracheal or esophageal differentiation in a pattern that is not easily classified by existing nosologic systems nor explained by the conventional hypothesis of dysontogenesis. Author Affiliation: (1) Department of Histopathology, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK , UK (2) Department of Paediatric Surgery, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK , UK (3) Department of Otorhinolaryngology, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK , UK (4) Department of Neonatology, Jessop Hospital for Women, Leavygreave Road, Sheffield S3 7RE, UK , UK Article note: Received January 22, 1998 accepted June 2, 1998.

Byline: Susan Williams (1), David M. Parham (2), Jesse J. Jenkins III (3) Keywords: Key words: peripheral neuroepithelioma, ganglion cells, neuroblastoma, ganglioneuroblastoma, primitive neuroectodermal tumor Abstract: Peripheral neuroepitheliomas, also known as peripheral primitive neuroectodermal tumors, are by definition primitive embryonal lesions generally composed of poorly differentiated neuroectodermal elements. We have examined two cases that paradoxically contain extensive foci of ganglionic differentiation similar to that of ganglioneuroblastoma, in addition to primitive elements. One tumor arose from the chest wall of an 8-year-old male and the other from the abdominal wall of a 15-year-old male. Differentiation into a mature ganglionic phenotype was confirmed by immunohistochemistry in one case. Rare peripheral neuroepitheliomas have a capacity for maturation that is not generally appreciated. These lesions should not be confused with ganglioneuroblastomas, which are genotypically unrelated neoplasms. Author Affiliation: (1) Department of Pathology, University of Tennessee, 899 Madison Avenue, Memphis, TN 38163, USA , US (2) Department of Pathology, University of Arkansas for Medical Sciences, 800 Marshall Street, Little Rock, AR 72202, USA , US (3) Department of Pathology and Laboratory Medicine, St. Jude Children's Research Hospital, 332 North Lauderdale Street, and Department of Pathology, University of Tennessee, 899 Madison Avenue, Memphis, TN 38105-2794, USA , US Article note: Received August 27, 1997 accepted March 27, 1998.

Byline: Tarik Tihan (1), Jonathan Okun (2) Keywords: Key words: hamartoma, hyperostosis, lipomatosis, neurofibromatosis, plantar hyperplasia, Proteus syndrome Abstract: Proteus syndrome is an extremely rare, complex hamartomatous disorder with markedly variable clinical expression. We present a case of Proteus syndrome with multiple disfiguring soft tissue masses that were present since early childhood. The lesions involved predominantly the right side of the body and included scoliosis, macrodactyly, and limited hyperostosis in the right foot. There was no evidence of cranial or skin lesions. The patient underwent multiple resections of soft tissue masses, including an amputation of the right foot because of severe gait disturbance. All specimens exhibited lipomatous lesions that were probably hamartomatous rather than neoplastic. She carried a diagnosis of neurofibromatosis for more than a decade, but a re-evaluation of clinical features and pathological findings prompted the diagnosis of Proteus syndrome. We believe that a more informed evaluation of the pathology material may help to identify this rare entity. Author Affiliation: (1) Department of Pathology, Johns Hopkins Medical Institutions, Carnegie Building, Room 484, 600 N. Wolfe Street, Baltimore, MD 21287, USA , US (2) Department of Pathology, State University of New York at Stony Brook, Stony Brook, NY 11794, USA , US Article note: Received May 6, 1997 accepted October 28, 1997.

Byline: Kevin E. Bove (1), Ruth I. Blough (2), Shirley Soukup (2) Keywords: Key words: liver, hamartoma, sarcoma, chromosomes, abnormal karyotype Abstract: We report the third known case of mesenchymal hamartoma of the liver (MHL) with a balanced translocation involving a common breakpoint, 19q13.4. A common clonal chromosome abnormality appears to characterize an important subset of MHL, some of which may be low-grade neoplasms. We found no consistent karyotype abnormality in a post-treatment sample of embryonal sarcoma of the liver (ESL). Reports of coexistent MHL and ESL in two patients and detection of 19q abnormalities in two ESLs appear to support Stocker's hypothesis of a histogenetic link between these two rare liver lesions. More data are needed to clarify this relationship. It is possible that MHLs are etiologically heterogenous and may be developmental disorders, disruptions, or neoplasms. Author Affiliation: (1) Division of Pathology, Children's Hospital Research Foundation, HT-4, 3333 Burnet Avenue, Cincinnati, OH 45229, USA , US (2) Division of Human Genetics, Children's Hospital Research Foundation, HT-4, 3333 Burnet Avenue, Cincinnati, OH 45229, USA , US Article note: Received May 6, 1997 accepted September 19, 1997.

Byline: Ulrike Bartram (1), Stella Van Praagh (2), John F. Keane (3), Peter Lang (3), Mary E. van der Velde (3), Richard Van Praagh (2) Keywords: Key words: anomalous pulmonary veins, aortic atresia, crossover lung segment, mitral atresia, premature narrowing of the foramen ovale, scimitar vein Abstract: A newborn female infant was found to have a unique and previously unreported group of anomalies: (1) mitral and aortic atresia with a highly obstructive atrial septum (2) hypoplasia of the right lung with a crossover segment involving the right lower lobe (3) normally connected pulmonary veins, two from the left lung and one from the right and (4) a large anomalous branch of the right pulmonary vein of scimitar configuration that anastomosed with the normally connected right pulmonary vein and with the inferior vena cava (IVC). The scimitar vein appeared obstructed at its junction with the right pulmonary vein and at its junction with the inferior vena cava within the hepatic parenchyma. To our knowledge, this is the first report of a scimitar-like vein coexisting with mitral and aortic atresia and connecting both with the right pulmonary vein and with the inferior vena cava. The highly obstructed left atrium was partially decompressed by retrograde blood flow via the normally connected right pulmonary vein to the anomalous scimitar venous pathway and thence to the inferior vena cava via a pulmonary-to-IVC collateral vein. Author Affiliation: (1) Department of Pathology, Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA , US (2) Departments of Cardiology and Pathology, Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA , US (3) Department of Cardiology, Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA , US Article note: Received March 18, 1997 accepted August 6, 1997.

Byline: Frank Tenney (1), Abdullah Sakarcan (1) Keywords: KeywordsaCMV; Pediatrics; Daclizumab; Tacrolimus; Kidney; Transplantation; Mycophenolate; Immunosuppression Abstract: The incidence of CMV infection in pediatric renal transplant recipients has increased as immunosuppression levels deepen following the use of newer immunosuppressive agents. It has been thought that 3--5 months of anti-CMV prophylaxis offers sufficient protection for these patients. We present a case of late-onset fatal CMV disease in a pediatric renal transplant recipient who received prolonged anti-CMV prophylaxis while on "quadruple" immunosuppression with daclizumab, mycophenolate, tacrolimus, and prednisone. Our case has prompted us to reassess CMV surveillance, prophylaxis, and immunosuppression levels in our pediatric renal transplant patients. Author Affiliation: (1) Department of Pediatrics, Division of Pediatric Nephrology, Louisiana State University Health Sciences Center at Shreveport, 1501 Kings Highway, Shreveport, LA 71130, USA, US (2) 8 Medical Park, Columbia, SC 29203, USA Tel.: +1-803-4342394, Fax: +1-803-4343855, US Article note: Received: 11 February 2000 / Revised: 19 July 2000 / Accepted: 27 July 2000

Byline: Sherri Garcia Martin (1), Gregory L. Kearns (1), Michael Brod (4), Gloria Austin (4), Bradley C. Vaughan (1) Keywords: Key wordsaDisopyramide; Plasmapheresis; Pharmacokinetics; Extracorporeal drug removal Abstract: aThe impact of plasmapheresis on the disposition of disopyramide was investigated in a 16-year-old female with systemic lupus erythematosus. Determination of total disopyramide plasma concentrations immediately prior to and following a 4-h plasmapheresis treatment revealed a significant reduction (i.e., 1.77 to 0.7 amg/l or approximately 60%). However, reassessment of the total serum concentration after 1.5 ah (i.e., post equilibrium) revealed a rebounding of the value to 1.64 amg/l. Associated with this reduction in total serum levels was a decrease in the protein-bound fraction of disopyramide from 69.5% (pre treatment) to 48.6% (post treatment) that corresponded to a commensurate reduction in the concentration of [alpha].sub.1-acid glycoprotein (i.e., 119 amg/dl pre treatment to 48.9 amg/dl post treatment). Despite these alterations in disopyramide concentrations, the procedure removed only 2.7% of the disopyramide dose and was not associated with the appearance of a cardiac dysrhythmia. Author Affiliation: (1) Department of Pediatrics, University of Missouri-Kansas City, Children's Mercy Hospital, Kansas City, Missouri, USA, US (2) Department of Pharmacology, University of Missouri-Kansas City, Children's Mercy Hospital, Kansas City, Missouri, USA, US (3) Section of Pediatric Clinical Pharmacology and Experimental Therapeutics, Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO 64108, USA e-mail: gKearns@cmh.edu Tel.: +1-816-234-3059, Fax: +1-816-855-1958, US (4) Section of Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA, US (5) Section of Critical Care Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA, US Article note: Received: 17 December 1997 / Revised: 7 August 1998 / Accepted: 12 August 1998

Byline: Gaetano Magro (1), Carmelo Venti (2) Keywords: Key words: desmoplastic fibroblastoma, collagenous fibroma, childhood, follow-up Abstract: We report the first case of a childhood desmoplastic fibroblastoma (collagenous fibroma). The tumor was located in subcutaneous tissue of the left buttock in a 5-year-old boy. No recurrence has been observed after 12 years, the longest follow-up available. Author Affiliation: (1) Institute of Anatomic Pathology, University of Catania, Via Biblioteca 4, 95124, Catania, Italy , IT (2) General Surgery, San Cataldo Hospital, Via Forlanini, San Cataldo, Caltanissetta, Italy , IT Article note: Received September 19, 1997 accepted January 5, 1998.

Byline: Marc B. Lande (1), Jeanne A. Mowry (1), Donald C. Houghton (2), Clifton R. White (1), Michael S. Borzy (4) Keywords: Key words: Epstein-Barr virus; Infectious mononucleosis; Acute glomerulonephritis; Immune complex; Leukocytoclastic vasculitis; Acute renal failure Abstract: We describe a patient with immune complex-mediated glomerulonephritis and leukocytoclastic vasculitis associated with Epstein-Barr virus (EBV) infectious mononucleosis. The patient required hemodialysis and has residual hypertension. This case implicates acute EBV infection as a cause of immune complex-mediated glomerulonephitis. Author Affiliation: (1) Division of Pediatric Nephrology, Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland, Oregon 97201, USA, US (2) Department of Pathology, Oregon Health Sciences University, Portland, Oregon 97201, USA, US (3) Department of Dermatology, Oregon Health Sciences University, Portland, Oregon 97201, USA, US (4) Division of Immunology and Rheumatology, Department of Pediatrics, Doernbecher Children's Hospital, Oregon Health Sciences University, Portland, Oregon 97201, USA, US Article note: Received October 10, 1997 received in revised form January 20, 1998 accepted January 27, 1998

Byline: E. Unuvar (1), F. Oguz (1), K. Scahin (2), A. NayA+-r (2), H. Ozbey (3), M. SA+-dal (1) Keywords: Key words: Urolithiasis; VATER; Uric acid; Urinary stone Abstract: VATER association is diagnosed by the combined presence of at least three of the following features: vertebral anomalies, anal atresia, tracheo-esophageal fistula and/or esophageal atresia, radial ray anomalies, and renal anomalies (53%). Urolithiasis has not been reported in this syndrome. A 4-month old girl presented because of irritability, and the presence of stones in the diapers. Physical examination revealed anal atresia for which colostomy was performed in the newborn period. The diagnosis of VATER association was established by the additional findings of hemivertebrae, sacral dysgenesis, and horseshoe kidney which was partly non-functional. Urinary pH was repeatedly below 6. An excreted stone consisted of pure uric acid. Metabolic investigations detected no specific pathology in purine metabolism. Urolithiasis did not recur after reconstructive anal and anorecto-vaginoplasty, implying that it was a consequence of colostomy and/or of the underlying renal anomaly. We suggest that after colostomy patients with VATER association should be followed for possible urate stones, e.g. by regular screening of urinary pH. Author Affiliation: (1) Institute of Child Health, University of Istanbul, Istanbul, Turkey, TR (2) Istanbul Medical Faculty, Department of Pediatrics, University of Istanbul, Istanbul, Turkey, TR (3) Istanbul Medical Faculty, Department of Pediatric Surgery, University of Istanbul, Istanbul, Turkey, TR Article note: Received May 20, 1997 received in revised form August 6, 1997 accepted August 12, 1997

Byline: Hui-Kim Yap (1), Kah-Yin Loke (1), Belinda Murugasu (1), Bee-Wah Lee (1) Keywords: Key words: Growth hormone; Systemic lupus erythematosus Abstract: The effect of growth hormone (GH) on subclinical disease activity in a 15-year-old boy with previously quiescent lupus nephritis and chronic renal failure is described. Institution of supraphysiological doses of GH resulted in a rise in erythrocyte sedimentation rate, decrease in serum complement, rise in anti-DNA antibody titers, and increase in T-cell activation markers, all of which improved following cessation of GH treatment. Author Affiliation: (1) Department of Pediatrics, National University of Singapore, Singapore, SG Article note: Received April 3, 1997 received in revised form September 2, 1997 accepted September 3, 1997

Byline: Martin A. Turman (1) Keywords: Key words: Gitelman syndrome; Bartter syndrome; Hypokalemia; Metabolic alkalosis; Hypocalciuria; Hypomagnesemia Abstract: The molecular defects responsible for the two most-common forms of inherited normotensive hypokalemic metabolic alkalosis have recently been defined. Most patients with Bartter syndrome have defects in transporters in the thick ascending limb of the loop of Henle, such as the Na-K-2Cl cotransporter, NKCC2, or the ATP-sensitive potassium channel, ROMK. Patients with Gitelman syndrome usually have mutations in the thiazide-sensitive Na-Cl cotransporter in the distal convoluted tubule. The location of the affected transporters correlates well with the typical presentation of these syndromes. Patients with Bartter syndrome typically present with normal or increased calcium excretion. Hypomagnesemia is present in only one-third of affected individuals. In contrast, hypomagnesemia and hypocalciuria are considered hallmarks of Gitelman syndrome. This report describes siblings presenting as young adults with mild symptoms associated with normotensive hypokalemic metabolic alkalosis. One sibling has hypocalciuria and hypomagnesemia, consistent with Gitelman syndrome. Surprisingly, the other sibling has normal serum magnesium and urinary calcium excretion. These siblings demonstrate the biochemical heterogeneity that can exist in patients with normotensive hypokalemic metabolic alkalosis. This report indicates that hypocalciuria does not always distinguish Gitelman and Bartter syndromes. Author Affiliation: (1) Department of Pediatrics, The Ohio State University and Children's Hospital, Columbus, Ohio, USA, US Article note: Received May 29, 1997 received in revised form and accepted June 26, 1997

Byline: Teresa C. Hayes, MD (0) Author Affiliation: (0) Department of Pathology, Methodist Children's Hospital South Texas, San Antonio, TX, USA , US

Byline: Angela La Manna (1), Cesare Polito (1), Maria R. Papale (1), Claudia E. Rocco (1), Antonio Marte (1) Keywords: Key words: Systemic lupus erythematosus; Chronic cystitis Abstract: An 8-year-old girl with systemic lupus erythematosus (SLE) and diffuse proliferative glomerulonephritis had chronic interstitial cystitis (CIC) early in the course of SLE. The early occurrence of CIC, the lack of intestinal symptoms, the association with vesicoureteric reflux, and the improvement of CIC during therapy with cyclosporin A were the prominent features of the patient reported here. Author Affiliation: (1) Department of Pediatrics, Second University of Naples, Naples, Italy, IT Article note: Received June 16, 1997 received in revised form September 18, 1997 accepted September 24, 1997

Byline: Birgul Varan (1), Hamdi Karakayali (1), Ali Kutsal (1), Nurhan Ozdemir (1) Keywords: Key words:aHemothorax; Arteriovenous fistula; Hemodialysis Abstract: An 8-year-old girl who had undergone chronic hemodialysis for 1 year presented with respiratory distress 24 h after a hemodialysis session. She had a massive pleural effusion of the left chest that was shown to be hemothorax by thoracentesis. After chest tube insertion, drainage was maintained for 2 days. Pleural effusion recurred after withdrawal of the chest tube. The antecubital arteriovenous fistula on the left arm was found to have an excessive flow with a thrill which was felt all over her left shoulder and left hemithorax. The pleural effusion resolved spontaneously a week after ligation of the fistula. Excessive flow in the arteriovenous fistula was thought to be the cause of the hemothorax and should be included in the differential diagnosis of hemothorax in hemodialysis patients. Author Affiliation: (1) Department of Pediatrics, Faculty of Medicine, BaAkent University, TR-06490 Bahcelievler, Ankara, Turkey, TR Article note: Received January 21, 1997 received in revised form June 27, 1997 accepted July 2, 1997

Byline: Valerie M. Panzarino (1), Thomas J. Feldstein (2), Clifford E. Kashtan (1) Keywords: Key words: Vancomycin; Overdose; Charcoal hemoperfusion Abstract: A 14-month-old girl with chronic renal insufficiency received a massive overdose of vancomycin, resulting in worsened renal failure and ototoxicity. We report the use of combined charcoal hemoperfusion and dialysis to accelerate vancomycin removal in this patient. Author Affiliation: (1) Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA, US (2) Department of Pediatrics, Children's Health Care -- Minneapolis, Minneapolis, Minnesota, USA, US Article note: Received January 29, 1997 received in revised form and accepted June 27, 1997

To the Editor.-- ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial anomalies. (1,2) In most ICF cases reported, mutations in the DNA [...]