Should hemophiliac patients be circumcised?

Social and cultural integration of hemophilic boys into society is one of the most important cornerstones of modern hemophilia therapy. Circumcision, a traditional procedure, is an important ritual for Muslims and Jews and an important social problem for the hemophiliac patient and his family. The aim of this study was to evaluate the psychosocial dimension of circumcision and the opinions of parents and children. A total of 105 hemophiliac patients and parents were interviewed and surveyed. Of these, 94% of the parents of uncircumcised patients wanted circumcision for their children. Most parents saw circumcision as a mandatory procedure. Hemophilic boys (60%) and their parents (82%) have an inferiority complex because the boys are unable to be circumcised. Bleeding risk is the primary reason of anxiety (70%). The parents of all the circumcised patients were happy after circumcision. In conclusion, circumcision is an important social problem of hemophilic patients that needs to be solved.     

CHILDHOOD NON-HODGKIN LYMPHOMA PRESENTING AS HEMOPHAGOCYTIC SYNDROME

An 8-year-old girl with a progressive systemic hemophagocytic syndrome was found to have non-Hodgkin lymphoma (NHL) after multiple nondiagnostic biopsies. Routine histochemistry and flow cytometry demonstrated this to be a peripheral T-cell process and cytogenetics identified a t(2;5)(p23;q35). An extensive evaluation for an infectious agent failed to identify a pathogen. Treatment according to a standard lymphoma protocol produced a rapid response and the girl remains in remission without evidence of hemophagocytic syndrome 18 months from diagnosis. In children with systemic hemophagocytosis, a diagnosis of NHL should be aggressively pursued.     

NASOPHARYNGEAL CARCINOMA IN A BOY WITH FRAGILE X SYNDROME

The authors report on what they believe to be the first case of nasopharyngeal carcinoma in a patient with fragile X syndrome. In the literature, a few cases of fragile X syndrome associated with malignancies are described. Although this association seems more than coincidental, the molecular correlation between this syndrome and cancer is yet unclear.     

REFRACTORINESS TO RITUXIMAB MONOTHERAPY IN A CHILD WITH RELAPSED/REFRACTORY BURKITT NON-HODGKIN LYMPHOMA

The authors describe a 6-year-old boy diagnosed with mediastinal Burkitt lymphoma with tumor invasion into bone marrow and both kidneys. After receiving chemotherapy according to NHL BFM-95 protocol for the high-risk disseminated lymphoma, the patient reached complete remission. He relapsed in the mediastinum at 5 months from the diagnosis. He underwent thoracotomy and tumor mass was removed by inferior lobectomy of right lung. Residual tumor progressed rapidly. Autologous stem cell transplantation could not be performed because of unresponsiveness to cytoreductive chemotherapy. Twenty-three days after the last chemotherapy course, he received rituximab at a dose of 375 mg/m ² by intravenous infusion weekly, for a total of 8 dose. However, multiple intra-abdominal metastatic lesions were detected at the end of the therapy. Palliative radiotherapy was applied to these sites. He died because of disease progression, 11 months after the diagnosis.     

DISCITIS FOLLOWING LUMBAR PUNCTURE IN NON-HODGKIN LYMPHOMA

Discitis in children is a rare disorder of intervertebral disc and vertebral end plate. Infection or trauma, like lumbar puncture, may be the possible causes. Low-back pain and gait disturbance are the main symptoms. The most appropriate diagnostic procedure is MRI. Treatment is mainly empirical. Here a case with non-Hodgkin lymphoma is discussed. Treatment consisted of strict bed rest and antibiotics. Safe and sterile technique is important in patients with invasive procedures like intrathecal chemotherapy. Although discitis is a self-healing condition, it might cause vertebral osteomyelitis. In this regard, physicians should be aware of this probable complication after lumbar puncture and manage it earlier in children with cancer.     

NON-HODGKIN LYMPHOMA PRESENTING WITH UVEITIS OCCURRING AFTER BLUNT TRAUMA

We report here an unusual patient suffering from visual loss with refractory uveitis which was occured after a blunt trauma to her left eye. While in the hospital cervical lymph node and anterior chamber aspiration cytology with immunohistochemical staining were performed. The histopathologic diagnosis was highly malignant B-cell non-Hodgkin lymphoma. After the inflammation of the eye was regressed with chemotherapy, pars plana vitrectomy-lensectomy was performed. She was free of inflammation and the best corrected visual acuity was increased. However, she had a refractory inflammatory episode with clumps of cells in the anterior chamber 10 months after the operation. Local radiotherapy to the left eye was applied. Radiotherapy provided local control and preservation of the vision. The present case is presented in order to emphasize the importance of systemic evaluation in uveitis and possible role of trauma leading migration of atypical cells into the eye.     

NON-HODGKIN LYMPHOMA PRESENTING WITH UVEITIS OCCURRING AFTER BLUNT TRAUMA

We report here an unusual patient suffering from visual loss with refractory uveitis which was occured after a blunt trauma to her left eye. While in the hospital cervical lymph node and anterior chamber aspiration cytology with immunohistochemical staining were performed. The histopathologic diagnosis was highly malignant B-cell non-Hodgkin lymphoma. After the inflammation of the eye was regressed with chemotherapy, pars plana vitrectomy-lensectomy was performed. She was free of inflammation and the best corrected visual acuity was increased. However, she had a refractory inflammatory episode with clumps of cells in the anterior chamber 10 months after the operation. Local radiotherapy to the left eye was applied. Radiotherapy provided local control and preservation of the vision. The present case is presented in order to emphasize the importance of systemic evaluation in uveitis and possible role of trauma leading migration of atypical cells into the eye.     

DOUBLE HAPLOIDENTICAL TRANSPLANTATION OF HEMATOPOIETIC PROGENITOR CELLS IN A BOY WITH MYELODYSPLASTIC SYNDROME

A 12-year-old boy with myelodysplastic syndrome underwent a double transplantation of hematopoietic progenitor cells from his haploidentical brother. After conditioning with busulfan, cyclophosphamide, and Vepesid, the first bone marrow transplantation was performed using 3.53 10 6/kg of CD34+ cells. Initial engraftment was followed by graft rejection. The second conditioning consisted of melphalan and anti-thymocyte globulin. The boy was then transplanted with 5.15 10 6/kg of CD34+ cells, harvested from bone marrow (BM) and peripheral blood. Graft versus host disease (GvHD) prophylaxis consisted of cyclosporine A+ short methotrexate. Hematological recovery was rapid and stable. Acute GvHD I (skin) resolved after 2 weeks of steroid treatment. A relapse occurred on day + 140. At that time NK cells decreased from 20 to 7% with the lowest CD4+/CD8+ratio, 0.07. Just after relapse, the percentage of cytokine-induced killer cells (CIK-CD3+CD56+)dropped from 3.34 to 0.1%. CsA treatment was stopped and the patient received T cell (CD3+cells)add-back four times on days +146, + 199, + 234, and + 262 in doses of 0.5 10 5,1.0 105,2.0 105, and 4.0 105/kg, respectively. No acute GvHD occurred. Additionally, bone marrow biopsy before the second add-back showed complete remission. Analysis of lymphocyte subsets before the fourth add-back showed the highest values of CD4+, NK, and CIK cells and also the highest CD4 + /CD8 + ratio.     

MALE GONADAL FUNCTION IN SURVIVORS OF CHILDHOOD HODGKIN AND NON-HODGKIN LYMPHOMA

The aim of this study was to investigate the impact of therapy on long-term gonadal function of young people cured of childhood lymphomas and to assess whether a prepubertal state during the treatment protects the gonads from chemotherapy and/or radiotherapy late effects. Clinical evaluation, semen analysis, and endocrine status were studied in 20 survivors of childhood lymphomas. Five patients received Inverted Y radiotherapy, 2320 cGy (1550-4000); all 20 received chemotherapy as follows: MOPP/ABVD protocol, 9 patients; COMP protocol, 5 patients; MOPP protocol, 3 patients; other protocols, 3 patients. Semen analysis results were as follows: normal values, 4/20 patients; oligospermia, 8/20 patients; azoospermia, 8/20 patients; FSH above normal level, 10/20 patients; 4/5 who received Inverted Y irradiation were azoospermic and 1 was severely oligospermic. Treatment damage to the testis involves tubular germinal elements. Radiotherapy and chemotherapy combinations that included nitrogen mustard or cyclophosphamide were associated with high rates of oligospermia and azoospermia. MOPP/ABVD combination did not have a significant better outcome of sperm counts compared to MOPP alone. Age at chemotherapy did not correlate with the sperm count; hence a prepubertal state did not protect the gonad from the late effects of treatment.     

ANTIBODY DEFICIENCY SYNDROME AND AUTOIMMUNE HAEMOLYTIC ANAEMIA IN A BOY WITH ISOLATED IgM DEFICIENCY DYSIMMUNOGLOBULINAEMIA TYPE 5

This paper describes a boy who suffered from severe recurrent infections from the first year of life. A brother with similar symptoms died from meningococcal meningitis. Virtually no IgM was demonstrable in the patient's serum, and it is suggested that the antibody deficiency syndrome in this case was based on a familial congenital disturbance in IgM synthesis. A study of antibody formation disclosed that disturbances existed in the formation of antibodies assumed to be contained in IgM; other antibodies were produced in adequate amounts. The significance of these findings is discussed in some detail. The boy subsequently developed autoimmune haemolytic anaemia. The question whether this was caused by the IgM deficiency or whether the immunological imbalance was based on a general disorder must remain unanswered.     

CLINICAL CHARACTERISTICS AND TREATMENT RESULTS OF PEDIATRIC B-CELL NON-HODGKIN LYMPHOMA PATIENTS IN A SINGLE CENTER

The aim of this study was to evaluate and compare the clinical characteristics of the B-cell non-Hodgkin lymphoma (NHL) patients and therapeutic efficacy of modified NHL BFM-90 and NHL BFM-95 protocols in the authors’ center. From January 1993 to December 2003, 61 newly diagnosed children with B-NHL were enrolled to the study. The patients were stratified by risk factors and treated either with a modified B-NHL BFM-90 or BFM-95 protocols. The use of 1 or 3 g/m² of methotrexate instead of 5 g/m²/24 h was the only important modification in BFM-90 protocol. Sixty-one children (12 girls, 49 boys) with a median age of 6.5 years (range: 2.5–16) were treated in the center. There were 14 patients in stage II, 28 in stage III, and 19 in stage IV. The most common initial primary tumor sites were abdomen, head, and neck. Forty-five patients were treated with modified B-cell BFM-90 and 16 patients were treated with B-cell BFM-95 regimens. The 5-year overall survival (OS) for all patients was 85.8%, and event-free survival (EFS) was 82.8%. The 5-year OS rates in modified BFM-90 and in BFM-95 protocols were 85.2 and 87.5%; the 5-year EFS rates in these 2 protocols were 84.6 and 70%, respectively (p >.05). Factors associated with lower EFS by univariate analysis were bulky disease, risk groups, and LDH level ≥ 500 IU/L. By multivariate analysis only LDH level was significant. In conclusion, the treatment results in this study were similar to those of BFM group.     

LYMPHOMATOID GRANULOMATOSIS IN A BOY WITH LONG-TERM FOLLOW-UP

Lymphomatoid granulomatosis is an angiocentric lymphoreticular proliferative disease. Some patients go on to develop frank neoplasia. The authors describe a patient who presented at the age of 12 years with pulmonary nodules and hepatosplenomegaly and was followed up for 6 years, and who subsequently developed lymphoma after cessation of therapy.     

THE CUTIS VERTICIS GYRATA AND MENTAL RETARDATION SYNDROME IN A 4-YEAR-OLD BOY

A 4-year-old profoundly mentally retarded boy with cutis verticis gyrata is described. He had four folds on the left parietal region, small asymmetric head, micrognathia, short neck, marmorated skin, thoracic scoliosis, spastic tetraplegia and epilepsy. Encephalography revealed marked asymmetric macroventriculy with hypoplastic brain stem and cerebellum. Thorn's test and corticotrophin stimulation test gave normal responses. The boy is the youngest patient with the cutis verticis gyrata and mental retardation syndrome described in the literature. The numerous malformations of the patient strongly support the theory of prenatal origin of the cutis verticis gyrata and mental retardation syndrome.     

FACIAL NERVE PALSY IN AN INFANT WITH HEMOPHILIA A

A 5-month-old infant with hitherto undiagnosed hemophilia A, who developed a unilateral lower motor neurone type of facial palsy, is described. A high-resolution CT scan confirmed the nerve palsy to be a consequence of a hemotympanum. The patient recovered completely in 7-10 days after therapy with factor V III concentrate.     

ADDISON'S DISEASE ASSOCIATED WITH PRECOCIOUS SEXUAL DEVELOPMENT IN A BOY

ABSTRACT. Marilus, R., Dickerman, Z., Kaufman, H., Varsano, I. and Laron, Z. (Institute of Pediatric and Adolescent Endocrinology, Steroid Laboratory and Pediatric Department B, Beilinson Medical Center, Petah Tikva, Sackler School of Medicine, Tel Aviv University, Israel). Addison's disease associated with precocious sexual development in a boy. Acta Paediatr Scand, 70:587,.–An eleven-year-old boy was diagnosed to have Addison's disease with an ACTH level of over 4 500 pg/ml after a short episode of fever and dehydration. From the age of 6 years his skin and buccal mucosa had been hyperpigmented but there were no other subjective complaints. The clinical examination also revealed signs of advanced puberty for his age (3rd-4th stage according to Tanner's criteria), with advanced bone age (13 years). The elevated levels of plasma testosterone and gonadotropins and their response to LH-RH stimulation were appropriate for his clinical stage of puberty and supported the diagnosis of true precocious puberty. It is proposed that the concomitant appearance of Addison's disease and precocious puberty is due to a "drift" phenomenon of LH-RH and/or gonadotropins following the prolonged elevation of ACTH secretion.     

ACQUIRED VON WILLEBRAND DISEASE IN A TURKISH BOY WITH GAUCHER DISEASE

Wilms’ tumors (WT) constitute approximately 6–14% of all childhood cancers and about 95% of all pediatric renal malignancies. While prognostic factors for this malignancy are relatively well-defined, few studies have specifically examined the role of Hispanic ethnicity in pediatric WT survival. The purpose of this study was to compare WT survival among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic cases using data from the Surveillance, Epidemiology, and End Results (SEER) program. WT cases (ICD-O-3 histological code 8960) under age 20 were isolated from a recent subset of the SEER dataset (1990–2009). Demographics and tumor characteristics were compared by race/ethnicity, and 5- and 10-year survival probabilities were calculated. Multivariable Cox proportional hazards regression was used to assess the effects of race/ethnicity on WT survival, adjusting for relevant covariates. Hispanic ethnicity was significantly associated with WT-specific mortality hazard, controlling for age, sex, diagnosis/treatment era, laterality, SEER stage, cancer-directed surgery, and radiation therapy (HR: 1.52, 95% CI: 1.02–2.25). The results of this study suggest that Hispanic pediatric WT cases may have a higher risk of WT-related death, compared to NHW cases. Additional research on racial/ethnic disparities in WT survival is warranted.     

LEGIONNAIRES' DISEASE COMBINED WITH ERYTHEMA MULTIFORME IN A 3-YEAR-OLD BOY

ABSTRACT. Andersen, R., Bergan, T., Halvorsen, K., Kallings, I. and ørstavik, I. (Departments of Anaesthesia, Microbiology, and Paediatrics, Aker Hospital; Department of Microbiology, Ullevål, Oslo, Norway; and the State Bacteriological Laboratory, Stockholm, Sweden). Acta Paediatr Scand, 70:427, 1981.–A case of Legionnaires' disease (LD) is described in a 3-year-old boy. He had fulminant disease with typical signs like bilateral pneumonia, gastrointestinal symptoms, and somnolence indicating involvement of the central nervous system. There was no premorbidity. An outstanding development was erythema multiforme, which has never previously been described in LD. The basic disease was caused by Legionella pneumophila . This is evidenced by specific serum IgM at admission and a subsequent significant rise in titers against L. pneumophila . At an early stage respiratory syncytial virus (RSV) was isolated from the patient's throat, although there was no antiviral serological response at the outset of erythema multiforme or 3 weeks after onset of disease; anti-RSV appeared later. The prolonged course of the disease can be explained by the successive occurrence of two infections. The possibility that the virus could have contributed to the development of erythema multiforme cannot be ruled out. The role of concomitant medication cannot be separated out, but on the basis of general knowledge of their immuno-genicity and the fact that immunosuppressive cortisone was given at the time it is less likely that the antibiotics contributed significantly.