Billateral Polycystic Kidneys in a Girl with WAGR Syndrome

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation. An 8.5-year-old girl was initially investigated at the age of 18 months for congenital bilateral aniridia, cataracts, glaucoma and epicantus. The ultrasound (US) scan showed polycystic kidney disease. FISH study revealed deletion of the WT1 and PAX6 gene in the 11p13 WAGR region. Forty days after the first kidney US, the second US revealed a 3 cm tumor in the right kidney: a Wilms tumour, treated successfully with the Wilm’s tumor protocol. The authors conclude that the identification of the deletions in the WAGR region in patients with aniridia should definitely be done. In addition, Wilms tumor can have a very rapid growth, which, per se requires frequent and careful ultrasound kidney controls. Polycystic kidneys can be part of the WAGR presentation.     

Hepatic Rhabdomyomatous Tumor: Late Sequel of a Fetal Rhabdomyomatous Nephroblastoma

A mesenchymal tumor with the macroscopic and microscopic features of a fetal rhabdomyoma arose in the liver of a 14-year-old boy. Thirteen years previously this boy had been treated for a fetal rhabdomyomatous nephroblastoma with nephrectomy and—for subsequent peritoneal disseminations—with surgical excision, radiotherapy, and chemotherapy. The unusual hepatic location of the rhabdomyomatous tumor in this patient supports the view that this mature tumor developed from a metastasis of the original nephroblastoma. As such, this case may represent an example of irreversible change of a malignant process into a benign tumor probably caused by the action of systemic chemotherapy.     

Association d''une dysgénésie gonadique mixte et d''une forme non classique de bloc de la 21-hydroxylase

Background.

The rare association of mixed gonadal dysgenesis and non classical congenital hyperplasia by 21-hydroxylase deficiency poses the problem of their respective responsability in the development of sexual ambiguity.

Case report.

In a newborn with ambiguous genitalia, blood 17-OH progesterone was moderately elevated (3.9 to 14.1 ng/mL) leading to the diagnosis of non-classical 21 hydroxylase deficiency. Molecular studies later confirmed this diagnosis. However, the presence of a palpable gonad and the caryotype (45 X/46 XY mosaicism) indicated a mixed gonadal dysgenesis as the cause of sexual ambiguity. Histological examination revealed the presence of a testis and a streak gonad.

Conclusion.

This observation emphasizes the need for a complete clinical and biological analysis in all newborns with sexual ambiguity.     

La lithiase urinaire du nourrisson : étude de 14 cas

Background

Diagnosis of urolithiasis in infancy is uncommon. It imposes rational exploration resting on medical history, clinical features, radiologic assessment, metabolic investigation and stone analysis.

Aim

The aim of this study is to evaluate epidemiologic and etiologic features of the urolithiasis in infancy.

Methods

It's a retrospective study including 14 cases of urolithiasis in infants, enrolled in pediatric department of Charles-Nicolle Hospital during fourteen years (1995–2008).

Results

The median age was 13 months. Thirty five percent of the patients had a positive family history of urolithiasis. The main presenting symptoms were urinary tract infection (four cases) and macroscopic hematuria (three cases). Radio-opaque urolithiasis were diagnosed in nine patients (64%), multiple stones in four patients (28%). Six of patients were diagnosed as having metabolic urolithiasis, four anatomic, two infectious and two idiopathic.

Conclusion

In our study, metabolic causes remain the first cause of urolithiasis in infancy.     

WAGR syndrome with tetralogy of Fallot and hydrocephalus

Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome occurs sporadically due to deletion of chromosome 11p13. A variety of other abnormalities involving different systems have been reported in patients with WAGR syndrome. We report on a patient with WAGR syndrome with accompanying tetralogy of Fallot and hydrocephalus.     

Histology and prognosis of nephroblastoma--with special reference to special variants

101 cases of Wilms' tumor (nephroblastoma) were investigated by light microscopy. In 80 cases a diagnosis of triphasic nephroblastoma was made. 21 cases were classified as special variants of Wilms' tumor. These included congenital mesoblastic nephroma (n = 5), fetal rhabdomyomatous nephroblastoma (n = 2), cystic partially differentiated nephroblastoma (n = 3), nephroblastoma with focal or diffuse anaplasia (n = 2), clear cell sarcoma or bone metastasizing renal tumor of childhood (n = 4), rhabdoid tumor (n = 2) and rhabdomyosarcomatous nephroblastoma (n = 3). Based on our own follow-up data and on information from the literature we propose to separate the group of nephroblastomas into three categories of different prognosis: 1. Nephroblastomas of low risk (congenital mesoblastic nephroma, fetal rhabdomyomatous nephroblastoma, cystic partially differentiated nephroblastoma) - in most of these cases simple nephrectomy sufficient as adequate therapy. 2. Nephroblastomas of standard risk (triphasic nephroblastomas) - therapy according to stage of disease. 3. Nephroblastomas of high risk (nephroblastomas with focal or diffuse anaplasia, clear cell sarcoma, rhabdoid tumor, rhabdomyosarcomatous nephroblastoma) - successful therapy has as yet to be developed.     

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome

Denys-Drash syndrome is a rare genetic disorder featuring the triad of congenital nephropathy, Wilms tumor, and intersex disorders (XY under-virilization or XY female). Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor gene WT1. Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally caused by a dominant-negative mutation. We present a new case of Denys-Drash syndrome in a patient initially diagnosed with XY ambiguous genitalia/partial androgen insensitivity syndrome, who was found to have a novel nonsense mutation in exon 6 leading to a stop codon and hence a truncated protein. Based on lessons learned from this patient, the diagnosis of Denys-Drash syndrome should be considered in the presence of ambiguous genitalia and partial androgen insensitivity.     

Transplantation hépatique chez une adolescente atteinte de mucoviscidose

Background.

Orthotopic liver transplantation (OLT) is an effective treatment for patients with cystic fibrosis end stage liver disease, especially those with only mild pulmonary involvement. Long-term follow-up in such transplanted patients is still lacking.

Case report.

A 15-year-old girl with cystic fibrosis received an OLT because of severe decompensated cirrhosis. She had been colonized by Pseudomonas aeruginosa for 3 years and had pancreatic insufficiency; she also had mild glucose intolerance. Postoperatively she developed diabetes mellitus requiring insulin therapy for 9 months. Oral ciclosporin was poorly absorbed so that she was given a new emulsion of ciclosporin (Neoral^®) that was better absorbed. A rapid pubertal catch-up was obtained but the patient remained colonized by Pseudomonas aeruginosa.

Conclusion.

This 3-year post-operative follow-up confirms that OLT can represent a good alternative in those patients with severe liver disease and mild pulmonary involvement.     

Méningite à pneumocoque résistant à la pénicilline et transmission nosocomiale en milieu hospitalier pédiatrique confirmée par analyse génomique

Background.

Careful epidemiological studies and sophisticated diagnostic procedures are necessary to prove that bacterial infection is nosocomial in origin. DNA finger printing method can be useful with this aim in view.

Case reports.

A 11 month-old girl suffered from a febrile pneumonia. She developed acute meningitis 15 days later; culture of CSF grew Streptococcus pneumoniae, serotype 23 F, resistant to β-lactamines, erythromycin and cotrimoxazole. She died 24 hours later. Five days after this death, a 5 month-old infant hospitalized in the next bed developed an acute pulmonary infection due to the same strain with the same bacterial characteristics; this patient was cured with cefotaxime plus vancomycin and gentamicin. Randomly amplified polymorphic DNA analysis showed an identical profile of both strains.

Conclusion.

This is the first case of meningitis due to penicillin-resistant Streptococcus pneumoniae (PRSP) associated with nosocomial spread between two children in adjacent beds. This case suggests that it is necessary to isolate patients with PRSP infection during hospitalization.     

Outcome of pediatric renal tumor treated using the Japan Wilms Tumor Study-1 (JWiTS-1) protocol: a report from the JWiTS Group

Purpose

In 1996, the Japan Wilms Tumor Study (JWiTS) group was founded to elucidate the efficacy and safety of the regimen established by the National Wilms Tumor Study (NWTS) group in the USA, and a multicenter cooperative study (JWiTS-1) was started in Japan. This report reviews the results of JWiTS-1.

Methods

A total of 307 patients with malignant renal tumor were enrolled in the JWiTS-1 study between 1996 and 2005. Central pathological diagnosis and follow-up data were available in 210 cases. The protocol regimens were similar to the NWTS-5 regimens. Clinical stage was classified according to the Japanese Staging System.

Results

Five-year overall survival (OS) rate was 91.1% for nephroblastoma, 72.9% for clear cell sarcoma of the kidney (CCSK), and 22.2% for rhabdoid tumor of the kidney (RTK). In the nephroblastoma patients, 5-year OS was 90.5% for stage I disease, 92.2% for stage II, 90.9% for stage III, 86.7% for stage IV, and 78.7% for stage V.

Conclusions

The OS of patients in the JWiTS-1 study were comparable with the results of other multicenter studies in the USA and Europe. The outcome for patients with nephroblastoma and CCSK was fair. In contrast, the cure rate for those with RTK was not satisfactory. New treatment strategies are needed for patients with RTK.     

Predictive factor for intraoperative tumor rupture of Wilms tumor

Purpose

For Wilms tumor, intraoperative tumor rupture with wide tumor spillage during surgical manipulation raises the classification to stage 3. Then, postoperative chemotherapy must be more intensive, and abdominal radiotherapy is added. Therefore, intraoperative tumor rupture should be avoided if possible. However, predictive factors for intraoperative tumor rupture have not been sufficiently described. Here we examined the risk factors for intraoperative tumor rupture.

Methods

Patients with Wilms tumor who underwent treatment according to the National Wilms Tumor Study or the Japanese Wilms Tumor Study protocol at our institution were reviewed retrospectively. Collected cases were categorized into two groups: the ruptured group and the non-ruptured group. Risk factors for intraoperative tumor rupture, including the ratio of the tumor area to the abdominal area in a preoperative single horizontal computed tomography slice (T/A ratio), were investigated in both groups.

Results

The two groups were not different in age, body weight, tumor laterality, sex, or histological distribution. The T/A ratio in the ruptured group was significantly higher than that in the non-ruptured group. Receiver operating characteristic curve analysis identified a discriminative value for a T/A ratio >0.5.

Conclusion

The T/A ratio can be a predictive factor for intraoperative tumor rupture of Wilms tumor.

     

Syndrome de Jacobsen, thrombopénie et déficit immunitaire humoral

Background

Clinical features of Jacobsen syndrome include facial dysmorphism, congenital heart defects, digit anomalies and mild to moderate psychomotor retardation. Thrombocytopenia or pancytopenia is observed in one half of patients.

Patients

Two unrelated children, a 6-month- and a 12-year-old, presented with a moderate thrombocytopenia associated with the clinical features of Jacobsen syndrome. Bone marrow aspirates showed, in both patients, normal cellularity with an increased number of micromegacaryocytes. Chromosome analysis showed a partial deletion of the long arm of chromosome 11. The 12-year-old patient had a history of upper respiratory airways infections with immune humoral deficiency (decreased level of IgA and IgM) which, to our knowledge, has never been reported.

Conclusion

Jacobsen syndrome is a cause of inherited thrombocytopenia in children. Humoral immune functions must be explored in patients with a history of repeated infections.     

Croissance fœtale du prématuré de Haute-Normandie

Background.

Fetal growth standards of preterm infants are different from one study to another, especially for extremely preterm babies.

Population and methods.

Between 1976 and 1990, a cross-sectional study of the resulting intrauterine growth of premature newborns from Haute-Normandie (France) was conducted by collecting data of the compulsory health certificate set up in the first week after birth. In spite of exclusions, curves for obstetrical terms ranging from 28 to 36 weeks of gestational age were settled. Equivalents of 8,042 birth weights, 7,792 statures, 8,041 head circumferences and 6,737 ponderal index were used.

Results.

Comparing our results with those published in the literature, we observed short differences for mean or middle values: from less than 170 to more than 180 g for weight, from less than 1 to more than 2.6 cm for stature and from less than 1 to more than 1.9 cm for head circumference.

Conclusion.

The selected normal lower threshold for each parameter and the varieties of fetal growth inadequacy are under discussion.     

Torsion testiculaire périnatale : à propos de dix cas

Perinatal testicular torsion (PTT) is a rare disease. Two entities have been described: prenatal or postnatal. The aim of this study is to recall the different etiopathogenic and histological features of this disease, to highlight the difficulties of diagnosis and discuss treatment modalities and finally to establish a treatment protocol of PTT.

Patients and methods

This is a retrospective study through which we studied 10 patients admitted in the pediatric surgery department of Monastir hospital between 1990 and 2009.

Results

Seven newborns had the antenatal testicular torsion form and three had the postnatal form. The main clinical symptom was the scrotal swelling. The controlateral vaginal hydrocele was found in 50% of cases. Doppler ultrasonography was performed in five cases and found a PTT with no blood flow in four of the five cases. The no surgical treatment was opted for a single patient and semi-urgent surgical treatment by scrotal incision has been practiced for the nine other cases. The PTT was extravaginal in all the cases. The surgical procedure consisted of an ipsilateral orchiectomy in 100% of cases and we have realized a contralateral orchiopexy in six of the nine cases operated. Pathological examination found a hemorrhagic infarction in seven cases and testicular necrosis in three cases. The postoperative and subsequent evolution was favorable in all cases.

Conclusion

The PTT is a rare disease occurring in utero and during the first month of life. Its pathogenesis is still poorly understood and the therapeutic approach is controversial.     

Neutropénies allo-immunes néonatales. Intérêt du traitement par facteur de croissance granuleux (G-CSF). Deux nouvelles observations

Alloimmune neonatal neutropenia is a rare event. Usually asymptomatic, it may however in some cases result in a severe sepsis. Treatment with recombinant granulocyte colony-stimulating factor (G-CSF) has been recently proposed.

Case reports

We report two new cases in infected newborns of a successful treatment of alloimmune neonatal neutropenia with G-CSF, resulting in complete neutrophil recovery in less than 72 hours. Moreover, the treatment was well tolerated.

Conclusion

The analysis of these two cases and of those previously reported indicates that G-CSF represents the first-choice treatment in this affection when infectious signs are present in the neonate.     

Syndrome de hennekam

Hennekam syndrome is a disorder comprising intestinal lymphangiectasia, facial anomalies and moderate mental retardation. Eight cases have been previously reported

Case report

A 17-month-old girl was admitted to hospital for peripheral edema. On physical examination, she presented with a normal mental development. Facial anomalies were noted including a flat face, depressed and broad nasal bridge, puffy eye lids, mild down-slanting palpebral fissures, hypertelorism, epicanthat folds, bulbous nasal tip, small mouth, and low set ears. A simian line and haemangiomas on the arms, trunk and left limb were also noted. There was no organomegaty. Laboratory investigations showed iron deficiency anemia, hypoproteinemia, hypogammaglobulinemia and an elevated level of alpha-1 antitrypsin excreted in thefeces. Endoscopic investigation and the small bowel biopsy showed findings consistent with lymphangiectasia. The patient did well on 24 hour enterai nutrition including medium-chain triglyceride rich diet and infusion of human albumin.

Conclusion

We have aimed to remind that Hennekam syndrome should be included in differential diagnosis when intestinal lymphangiectasia are associated with facial anomalies.     

Association between WAGR syndrome and diaphragmatic hernia

Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R). In the early human fetus, WT-1 is expressed in the pleural and abdominal mesothelium, and consequently this gene may play a role in diaphragm development. The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. We present another infant with aniridia, left cryptorchidism with testicular dysgenesis, right-sided posterolateral diaphragmatic hernia and moderate psychomotor retardation, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.     

Paludisme sévère de l'enfant au Togo

Background

The definition of severe malaria is no longer limited to cerebral malaria, but is as well extended to other clinical forms of the disease. This work analyses epidemiological, clinical and evolutive aspects of severe malaria in Togo.

Patients and methods

This study included 549 children, aged from O to 15 years, hospitalized in 1994–5 in the pediatric department of the Lome-Tokoin University Teaching Hospital for severe malaria as defined by World Health Organization (WHO) criteria.

Results

The hospitalization frequency was 7.44%; the maximum frequency was from 1 to 5 years of age, but 6.56% of patients were more than 10 years old The most frequent clinical form was that of severe anemia, fallowed by cerebral complications, as seen in many African countries. The death rate was 18.94% and the proportional mortality was 8.21%; 2.73% of the patients had neurological sequelae (behaviour disturbances in five cases, aphasia in four, hemiplegia in three, munchment in one, oculomotor paralysis in one, and cerebellar ataxia in one). Hypoglycemia was fairly frequent (11.6%) and was associated with a poor prognosis.

Conclusion

It is possible to improve severe malaria prognosis in Africa by insisting not only on better equipment in intensive care wards, but also on improved and early management of hypoglycemia.     

Retrospective analysis to determine outcomes of patients with bilateral Wilms tumor undergoing nephron sparing surgery: 15-year tertiary single-institution experience

Purpose

To describe our clinical experience with nephron sparing surgery (NSS) for bilateral Wilms tumor and evaluate the outcomes of patients treated at one of the largest pediatric medical centers in China.

Methods

Medical records of children with bilateral Wilms tumor undergoing NSS in the Children’s Hospital of Chongqing Medical University during a 15-year period were retrospectively analyzed. Data collected were composed of age at surgery, tumor response, tumor rupture during resection, final pathologic margins, use of radiation therapy, pathology reports, renal function, and patient survival.

Results

A total of 18 eligible patients (10 males, 8 females) with bilateral Wilms tumor at a mean age of 2.28?±?1.12 years were identified. The administration of preoperative chemotherapy did not result in universally successful outcomes. All children underwent successfully unilateral or bilateral NSS, of which one had positive pathologic margins and five received radiation therapy postoperatively. The rates of tumor rupture and positive lymph nodes involvement were 11.1 and 19.4%, respectively. The pathological study showed favorable histology and unfavorable histology in 32 and 4 kidneys, respectively. The 4-year event-free survival and overall survival rates were 68.18 and 85.56%. In univariable analysis, tumor histology (p?=?0.0028) and disease stage (p?=?0.0303) appeared significantly associated with overall survival. After a median follow-up period of 41.5 months (range 10–89), three of the surviving patients were diagnosed with hypertension and one had renal insufficiency.

Conclusions

Our experience suggests that NSS has become a feasible and effective option with good oncologic outcomes. Further research, ideally in a multicenter randomized manner, is warranted to better assess the role of NSS in this challenging clinical scenario.