[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].

Abstract:

:Neurofibromatosis type 1 is the most common of the phakomatoses and the clinical follow-up is an interdisciplinary challenge. The data of 27 patients with NF1 were systematically reviewed and compared to data from the literature. All of our patients had clinical signs of NF1. Besides the classic criteria café-au-lait spots (100%), freckling (48,1%), positive family history (44,1%), neurofibromas (40,7%), Lisch nodules (22,2%) and optic pathway tumors (22,2%) there were developmental delay (40,7%), macrocephaly (33,3%), strabism (29,6%), scoliosis (18,5%), epilepsy (14,8%), pubertal anomalies (14,8%), short stature (11,1%) and tics. Morphologically, CNS hamartomas (55,5%), astrocytomas (22,2%) and one pheochromocytoma became apparent. Special findings consist of one aneurysm of internal carotic arteria, juvenile xanthogranulomas, a case of pulmonary stenosis and an intracardial tumor. Four new mutations in the NF1 gene were found. Regular screening of optic glioma with MRI had no clinical significance. In contrast to other authors, one of our patients with optic glioma showed clinical progress after twelve years of age. The detection of astrocytomas led only to therapeutic consequences, when clinical signs or symptoms occurred. As with other authors, we found no potential for CNS hamartoma to proliferate. In three cases with pubertal anomalies we found CNS gliomas, which indicates the need for MRI. The expense of screening, apart from clinical surveillance, seems inadequate in relation to clinical relevance and costs. We describe four new mutations in the NF1 gene; there have been no specific genotype-phenotype correlations. Neurofibromatosis type 1 and associated clinical abnormalities in 27 children.

journal_name

Klin Padiatr

journal_title

Klinische Padiatrie

authors

Syrbe S,Eberle K,Strenge S,Bernhard MK,Herbertz S,Bierbach U,Hirsch W,Froster UG,Kiess W,Merkenschlager A

doi

10.1055/s-2007-973086

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

326-32

issue

6

eissn

0300-8630

issn

1439-3824

journal_volume

219

pub_type

杂志文章
  • Hematopoietic stem cell transplantation for severe combined immunodeficiency.

    abstract::Severe combined immunodeficiency (SCID) is a heterogeneous group of congenital diseases characterized by their presentation with life threatening infections in the first months of life. The clinical presentation and the therapeutic outcome is influenced by multiple factors: the genetic defect, infectious complications...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-0031-1287826

    authors: Hönig M,Schulz A,Friedrich W

    更新日期:2011-11-01 00:00:00

  • [Cow's milk allergy: guidelines for the diagnostic evaluation].

    abstract::About 2% of the general population and up to 6% of children suffer from food allergy. Cow's milk is charged with a important role in infancy after weaning, since conventional formula are based on its procession. IgE-mediated and Non-IgE- mediated allergic reactions, which are different in manifestation and pathogenesi...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2006-921357

    authors: Kirchlechner V,Dehlink E,Szepfalusi Z

    更新日期:2007-07-01 00:00:00

  • Multiplate whole blood impedance point of care aggregometry: preliminary reference values in healthy infants, children and adolescents.

    abstract:BACKGROUND:The aim of the present study was to evaluate paediatric reference values for platelet function using a point-of-care whole blood impedance aggregometry. METHODS, RESULTS & CONCLUSION: In 265 healthy infants and children aged

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0030-1249081

    authors: Halimeh S,Angelis Gd,Sander A,Edelbusch C,Rott H,Thedieck S,Mesters R,Schlegel N,Nowak-Göttl U

    更新日期:2010-05-01 00:00:00

  • A Snapshot of Pediatric Patients with COVID-19 in a Pandemic Hospital.

    abstract:AIM:Reports describing coronavirus disease 2019 (Covid-19) in children are fewer than adult studies due to milder clinical picture. We aimed to share our experience at a single center with an emphasis on collective decision making. MATERIALS AND METHODS:A suspected case was defined as the presence of symptoms suggesti...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1263-1222

    authors: Duramaz BB,Turel O,Korkmaz C,Karadogan MT,Yozgat CY,Iscan A,Sümbül B,Erenberk U

    更新日期:2021-01-01 00:00:00

  • Clinical outcome of patients with childhood acute lymphoblastic leukaemia and an initial leukaemic blood blast count of less than 1000 per microliter.

    abstract:BACKGROUND:One of the strongest predictive factors for therapy outcome in childhood acute lymphoblastic leukaemia (ALL), treated according to ALL-BFM protocols, is the response to initial prednisone treatment. Prednisone response is characterized by the peripheral leukaemic blast count. The threshold value for the char...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2001-16848

    authors: Lauten M,Stanulla M,Zimmermann M,Welte K,Riehm H,Schrappe M

    更新日期:2001-07-01 00:00:00

  • Allogeneic hematopoietic stem cell transplantation in Glanzmann thrombasthenia complicated by platelet alloimmunization.

    abstract:BACKGROUND:For Thrombasthenia Glanzmann (GT) patients presenting with a severe clinical phenotype due to complete lack of thrombocyte function or increased titres of anti-platelet antibodies hematopoietic stem cell transplantation (SCT) is the only curative therapy. CASE REPORT:We report the case of a 13-month-old boy...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0031-1273726

    authors: Wiegering V,Winkler B,Langhammer F,Wölfl M,Wirbelauer J,Sauer K,Kobsar A,Meyer T,Strauss A,Bakchoul T,Eyrich M,Schlegel PG

    更新日期:2011-05-01 00:00:00

  • [Measles epidemic in a highly developed country: low mortality, high morbidity and extensive costs].

    abstract:BACKGROUND:Vaccination with 2 doses of > 95% of the population is necessary to eliminate measles. In Switzerland and especially in the central part, vaccine coverage is low (2006: 65%). This led 2006-2009 to a measles epidemic with thousands of cases and high costs. One death was noted in a formerly healthy 12 year old...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0033-1363254

    authors: Donas A,Marty-Nussbaumer A,Roost HP,Neuhaus TJ

    更新日期:2014-01-01 00:00:00

  • [Antacids for postoperative prevention of stress ulcer in infants: a dose finding study].

    abstract:UNLABELLED:In the prophylaxis of stress ulcers with antacids in young infants there are no recommendations of dosages that consider the physiologic maturation of gastric acid secretion. During the first six month of life the amount of gastric acid secretion in relation to body weight and body surface area increases exp...

    journal_title:Klinische Padiatrie

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1055/s-2008-1043985

    authors: Kentrup H,Skopnik H,Wolter L,Engelhart W,Nauert C,Heimann G

    更新日期:1996-01-01 00:00:00

  • Assessment of Needs for Counseling After Prenatal Diagnosis of Congenital Heart Disease - A Multidisciplinary Approach.

    abstract:BACKGROUND:Congenital heart disease is the most common cause of major congenital anomalies. After prenatal diagnosis effective counseling is crucial. However, little research has been undertaken in determining the most effective techniques. OBJECTIVES:To develop a questionnaire suitable to assess parental needs for co...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-0633-3331

    authors: Kovacevic A,Simmelbauer A,Starystach S,Elsässer M,Sohn C,Müller A,Bär S,Gorenflo M

    更新日期:2018-09-01 00:00:00

  • [Cyclic agranulocytosis (author's transl)].

    abstract::Report about cyclic agranulocytosis in a 10 1/2 years old girls, having stomatitis, sore throat and fever up to 39 degrees C in the interval of approximately 3 weeks since the age of 6 months. By the prophylactic treatment with pulverized tetracyclin, which is already given 2 days prior to the expected decrease of the...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Schönberger W,Schönberger G,Stopfkuchen H

    更新日期:1975-03-01 00:00:00

  • [A case of X/X translocation: t(X;X) (q26;p11)].

    abstract::An eight-year old girl showing a X/X-translocation (45,X/46,Xt(X;X)(q26;p11)) is presented. Besides short stature and congenital heart-anomaly no other phenotypical abnormalities were present. In all cells containing the abnormal X-chromosome, the latter was late labeling as shown by autoradiography and BrdU-labeling....

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Wagenbichler P,Frisch H,Schnedl W

    更新日期:1975-11-01 00:00:00

  • [Acute Ethanol Intoxication among Children and Adolescents - Analysis of 287 Hospitalized Cases Severity and Characteristics in Children under 14 Years].

    abstract:BACKGROUND:  Despite a reduction in hospitalizations due to acute alcohol intoxication in minors, alcohol consumption among children and adolescents still presents an alarming social and clinical phenomenon. This is amplified by presumably more severe clinical symptoms of the alcohol intoxication in children and adoles...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/a-1186-2155

    authors: Lozada CAQ,Bartels MB,Kieslich M

    更新日期:2020-09-01 00:00:00

  • [New concepts of corticosteroid treatment in pulmonary diseases of the premature infant].

    abstract::Corticosteroids for treatment or prevention of pulmonary disease are milestones in the management of preterm infants nowadays. Prenatal maternal administration as well as postnatal treatment of the mechanically ventilated preterm infant with bronchopulmonary dysplasia (BPD) are considered to be established concepts. H...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1043969

    authors: Krause M

    更新日期:1997-09-01 00:00:00

  • X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission.

    abstract::In children with primary immunodeficiencies, the onset of symptoms precedes the diagnosis and the initiation of appropriate treatment by months or years. This delay in diagnosis is due to the fact that while these disorders are rare, some of the infections seen in immunodeficient patients are common. Defective antibod...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0033-1354415

    authors: Vancikova Z,Freiberger T,Vach W,Trojanek M,Rizzi M,Janda A

    更新日期:2013-11-01 00:00:00

  • [Pre- and retrorenal neuroblastoma without kidney displacement].

    abstract::Pre- and retrorenal growing neuroblastomas did not produce any displacement of the kidney or any obstruction in the intravenous pyelogram. The diagnosis was done by ultrasound-scanning as well as biochemically before surgery. The reported cases show that sonography and determination of the catecholamine metabolites ar...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1034041

    authors: Burdach SE,Bliesener JA,Evers KG,Gharib M

    更新日期:1983-01-01 00:00:00

  • [Neurenteric cyst of the mediastinum--case report and review of the literature].

    abstract::A case of an infant with a mediastinal neurenteric cyst is used to review this rare entity. By definition a neurenteric cyst is the combination of an entodermal cyst with a vertebral dysplasia. Neurenteric cysts are located in the posterior mediastinum, preferentially on the right side. In a third of the patients thes...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1026749

    authors: Köster B,Emons D,Kunath U,Födisch HJ

    更新日期:1987-01-01 00:00:00

  • [After-care of children and young adults surviving cancer. Initial recommendations by the late sequelae study group].

    abstract::An increasing number of children suffering from cancer has been treated successfully during the last 25 years using therapy protocols of the Gesellschaft für Pädiatrische Onkologie und Hämatologie. The patients had to undergo an interdisciplinary treatment modality and a mostly intensive chemotherapy. Late effects cou...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1046537

    authors: Beck JD,Winkler K,Niethammer D,Brandis M,Hertzberg H,von der Hardt K,Greil J,Uberall MA,Rossi R,Lamprecht-Dinnesen A

    更新日期:1995-07-01 00:00:00

  • [Unilateral agenesis of the common femoral vein in a young boy with Klippel-Trénaunay syndrome (author's transl)].

    abstract::A boy aged 4 years and 3 months with Klippel-Trénaunay syndrome showed a vein the thickness of a finger running suprapubicly. When he was standing it was filled tightly. Angiography showed agenesis of the right common femoral vein. Reflux from the right leg passed through this vein to the left common femoral vein. On ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Jeschke R,Viehweger G

    更新日期:1975-07-01 00:00:00

  • [Treatment and results of the first relapse of acute lymphatic leukemia in childhood (author's transl)].

    abstract::In our experience the prognosis of hematological relapse in patients with acute lymphatic leukemia treated according to the Pinkel programme is very bad. It may be a little better for patients in whom relapse occurred after the end of therapy and who were submitted to intensified cytostatic treatment. The chances for ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Gröbe H,Schellong G

    更新日期:1977-01-01 00:00:00

  • [Hereditary heterozygote factor VII deficiency].

    abstract::Hereditary Factor VII deficiency is one of the rare congenital coagulopathies. Prolonged prothrombin time (PT) with normal partial prothrombin time (PTT) may be an indicator for Factor VII deficiency. A family with hereditary heterozygous Factor VII deficiency is presented in whom no symptoms of a bleeding disorder we...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025388

    authors: Laws HJ,Harbrecht U,Köster B

    更新日期:1992-11-01 00:00:00

  • Does megatherapy contribute to survival in metastatic neuroblastoma? A retrospective analysis. German Cooperative Neuroblastoma Study Group.

    abstract::To evaluate the impact of megatherapy on the outcome of high risk neuroblastoma, 39 patients with stage IV neuroblastoma, who underwent megatherapy, were analyzed retrospectively and compared to 49 patients, who continued chemotherapy according to the German cooperative trial NB85. The groups were comparable concernin...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1043950

    authors: Hero B,Kremens B,Klingebiel T,Bender-Götze C,Burdach S,Schrappe M,Berthold F

    更新日期:1997-07-01 00:00:00

  • [Increased incidence of developmental hip dysplasia in hypertrophic newborn infants].

    abstract::"Lack of space" in utero is considered to be a major factor in the aetiology of the congenital dislocation of the hip. This study tries to answer the question whether hypertrophy of a newborn has to be regarded as a risk factor on the basis of the principle mentioned above. The results of postnatal clinical and sonogr...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025256

    authors: Peschgens T,Skopnik H,Casser HR,Rauschning-Sikora K,Heimann G

    更新日期:1993-11-01 00:00:00

  • Long-term outcome after neonatal parenchymatous brain lesions.

    abstract:BACKGROUND:Although considered of high prognostic impact, knowledge on the long-term outcome after neonatal parenchymatous brain lesions (PBL) is limited. PATIENTS:29 children with either unilateral (n = 19) or bilateral (n = 10) hemorrhagic/ischemic PBL. METHODS:The patients were reinvestigated at 9 9/12 +/- 3 4/12 ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2004-44900

    authors: Häusler M,Merz U,Van Tuil C,Ramaekers VT

    更新日期:2004-07-01 00:00:00

  • Children and adolescents with fetal alcohol syndrome (FAS): better social and emotional integration after early diagnosis.

    abstract:BACKGROUND:Alcoholism during pregnancy is one of the most common factors in western societies causing persisting congenital and multiple physical as well as neurological impairments. Finding the diagnosis at first sight puts medical professionals into a demanding situation. Therefore the objective of this study was to ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0031-1299682

    authors: Alex K,Feldmann R

    更新日期:2012-03-01 00:00:00

  • [Progressive combined immunity defect with ectomesodermal dysplasia (author's transl)].

    abstract::A boy with dysplastic features had to be treated for recurrent diarrhoea and bronchitis since his tenth month of life. Defects in humoral and cellular immunity were found. The ecto-mesodermal abnormalities are so characteristic that in connection with the immunological changes it seems to be justified to assume a yet ...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:

    authors: Tympner KD,Belohradsky B,Eife R,Klose PK

    更新日期:1978-11-01 00:00:00

  • [Pseudoarthrosis in neurofibromatosis type 1].

    abstract::Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. The clinical manifestations are diverse. Some of the skeletal changes are most relevant to the patient. We report on 9 patients with NF1 who presented with typical pseudarthrosis. In 8 of these children the lower extremity was involved. In 2 cas...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2000-9647

    authors: Ramelli GP,Slongo T,Weis J,Tschäppler H,Vassella F

    更新日期:2000-01-01 00:00:00

  • [Retrospective marker analyses performed with blood and bone marrow smears using an immunoenzyme procedure (alkaline phosphatase-anti-alkaline phosphatase technic)].

    abstract::In the present study the possibility of immunophenotyping of routinely prepared (air dried) peripheral blood and bone marrow smears is described after storage. The immunoenzymatical alkaline-phosphatase-anti-alkaline-phosphatase (APAAP)-method was carried out in differently stored blood smears (+4 degrees C and -80 de...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-1025311

    authors: Ebener U,Hauser S,Wehner S,Kornhuber B

    更新日期:1989-07-01 00:00:00

  • [Rheumatic iridocyclitis in childhood--differentiation on the basis of clinical and immunological parameters (author's transl)].

    abstract::In approximately 10% of the children suffering from juvenile chronic arthritis (JCA), rheumatic iridocyclitis was also diagnosed. In 90 JCA and iridocyclitis patients we studied relative risk, clinical course and prognosis by means of several clinical and immunological parameters. Antinuclear antibodies (ANA), selecti...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2008-1033783

    authors: Michels H,Schuchmann L,Truckenbrodt H,Renz K

    更新日期:1982-03-01 00:00:00

  • Ambulatory care of children treated with anticonvulsants - pitfalls after discharge from hospital.

    abstract:BACKGROUND:Anticonvulsants require special consideration particularly at the interface from hospital to ambulatory care. PATIENTS AND METHOD:Observational study for 6 months with prospectively enrolled consecutive patients in a neuropediatric ward of a university hospital (age 0-<18 years) with long-term therapy of at...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-0033-1345174

    authors: Bertsche A,Dahse AJ,Neininger MP,Bernhard MK,Syrbe S,Frontini R,Kiess W,Merkenschlager A,Bertsche T

    更新日期:2013-09-01 00:00:00

  • [Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy].

    abstract::Dimenhydrinate overdosage in a 3(1/2) year-old-girl with dilative cardiomyopathy. Dimenhydrinate (Vomex(R)) is frequently used in the treatment of sickness and vomiting. The symptoms of overdosage present like an anticholinergic syndrome. We report on the clinical findings of an intoxication with dimenhydrinate in a 3...

    journal_title:Klinische Padiatrie

    pub_type: 杂志文章

    doi:10.1055/s-2007-984371

    authors: Girisch M,Hofbeck M,Rauch R,Apitz C,Sieverding L

    更新日期:2009-01-01 00:00:00