Botulinumtoxin als Teil einer integrierten Behandlung

After the publication of the interdisciplinary German consensus on botulinum toxin (BoNT) and the treatment of gross motor function disorders in children with cerebral palsy (CP) in 2007, the integrative therapeutic concept has progressively been incorporated into the clinical routine. Paediatric neurologists, social paediatricians, paediatric orthopaedic surgeons, orthoptists, and therapists gathered to hold the first interdisciplinary CP conference of the German-speaking countries in June 2009 (Freiburg, Germany), which received great feedback. Besides the topics described in the preceding articles of this issue, four subjects regarding BoNT treatment in children with CP have (re)emerged: (1) the safety of BoNT treatment, (2) a paradigm shift to BoNT as a modulator of muscular imbalance, (3) newly approved BoNT preparations, and (4) the effect of BoNT treatment over the course of time. This review focuses on these four topics and tries to integrate the information on the basis of the updated European consensus 2009 (in press) and the graphics-supported consensus on the treatment of movement disorders in children with bilateral spastic CP, which was published in this journal in summer 2009.     

Alopecia universalis congenita,XY gonadal dysgenesis and laryngomalacia: a novel malformation syndrome

We report on five individuals with the following consistent findings: alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. The clinical presentation of the XY gonadal dysgenesis was ambiguous genitalia, appearing as male or, more commonly, female. In one affected individual müllerian structures were present. The affected individuals come from two unrelated families. While in the first family the two affected individuals come from two related sibships, three affected individuals come from one sibship in the second family. Parents of affected individuals in the three sibships are first cousins. To our knowledge, this association has not been reported before. We speculate that the mode of inheritance of this disorder is autosomal recessive with probable sex limitation.     

Behandlung der akuten Immunthrombozytopenie des Kindesalters mit einer Einzeldosis Immunglobulin

Zusammenfassung In der retrospektiven Studie untersuchten wir 27 Kinder mit akuter Immunthrombozytopenie (ITP), die bei Diagnosestellung Blutungszeichen und Thrombozytenwerte von < 20 000/μl aufwiesen. Die Behandlung erfolgte mit i. v. gegebenen Immunglobulinen (IVIG) in einer Dosis von 0,4 g/kgKG. 24 h nach einer Einzeldosis IVIG hatten 19 von 27 Kindern (70 %) Thrombozytenwerte von > 20 000/μl erreicht. Bei 12 der 19 Kinder wurde daraufhin die Behandlung beendet und bei 7 Kindern über 2–4 Tage fortgeführt. Der Thrombozytenverlauf der 12 Kinder mit nur einer Einzeldosis IVIG unterschied sich nicht von dem der 7 Kinder, die l?nger behandelt wurden. Patienten, deren Thrombozyten nach der ersten IVIG-Gabe nicht innerhalb von 24 h über 20 000/μl anstiegen, zeigten trotz weiterer Therapie einen protrahierteren Krankheitsverlauf. Eine Einzeldosistherapie mit 0,4 g/kgKG IVIG erscheint uns ausreichend für die meisten Kinder mit akuter ITP, Blutungszeichen und niedrigen Thrombozytenwerten.      

Calcinosis universalis

Summary A case of calcinosis universalis is reported with a follow-up of two years. No definite etiology could be found. A ketogenic diet, corticosteroids and chloroquine did not prove to be of any use in this case. “Edathamil” produced clinical improvement but an increase in radiological calcification persisted. From the departments of Pediatrics and Radiology, All India Institute of Medical Sciences, New Delhi-16.     

Behandlung einer akuten monoblastären Leukämie bei einem Säugling mit einer Glutarazidurie Typ I

Glutaric aciduria type 1 (GA1) is caused by an inherited deficiency of the enzyme glutaryl coenzyme A dehydrogenase (GDH) involved in the degradation of lysine, hydroxylysine, and tryptophan. Affected infants develop unspecific neurological symptoms and macrocephaly. Deterioration of the neurological status, so-called encephalopathic crisis can be triggered by catabolism and is usually incompletely reversible. We report on a 4-year-old girl with GA1 who presented with acute monoblastic leukemia at the age of 8 months. She was treated with combination chemotherapy according to current standards. Despite the elevated risk of metabolic imbalance during infections in neutropenia, encephalopathy crises could be avoided by reduced intake of lysine and tryptophan, a high-energy diet, and supplementation with carnitine.     

Alopecia congenita universalis,microcephaly, cutis marmorata,short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome

Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyotype analysis revealed a male constitution (46,XY) with no deletion of STS or SRY. She showed entirely normal female external genitalia and absence of female internal genitalia. Histological examination of the very small testicles found on laparascopy showed developed spermatic cords and paratesticular tissue with no testicular parenchyma, no Sertoli or Leydig cell development, and no seminiferous tubular development. Hormonal profile was that of a normal female child. Southern blotting and PCR assays showed an intact Y chromosome. Limited sequencing of the SRY gene revealed no mutations. Conclusion: this patient, together with the recently reported consanguineous families, represent a previously unrecognised autosomal recessive trait with pleiotropic effects including XY gonadal dysgenesis.     

Sketched x-rays: Calcinosis universalis

Calcinosis universalis (CU) is a known complication of dermatomyositis manifesting as calcified nodules and plaques localized in subcutaneous tissue, fascial planes, tendons, or intramuscular regions. We report a case and image of CU in a 9-year-old boy diagnosed with juvenile dermatomyositis (JDM).     

Calcinosis universalis associated with tuberculosis

A 12-year-old girl with clinical evidence of abdominal tuberculosis also had a widespread soft tissue calcification termed calcinosis universalis. Despite antituberculous therapy the patient died and autopsy confirmed tuberculous peritonitis. No cause could be found for the soft tissue calcification. The co-existence of the two diseases is probably incidental.     

Eitrige Vulvovaginitis bei einem neugeborenen Mädchen als seltene Form einer Trichomonas vaginalis-Infektion und ihre Behandlung

Zusammenfassung Der durch Trichomonadeninfektion bedingte Anteil ist bei kindlichen Vulvovaginitiden viel geringer als im gebärfähigen Alter. Es wird der Fall einer Trichomonadenkolpitis bei einem neugeborenen Mädchen dargestellt, bei dem eine Infektion unter der Geburt anzunehemen ist. Nach Besprechung der Erreger werden die entwicklungsbedinten Änderungen von Scheidenschleimhaut und-milieu behandelt. Neben epidemiologischen Gesichtspunkten scheinen diese für das seltenere Vorkommen der Trichomonadenkolpitis im Kindesalter wichtig zu sein. Zuletzt wird auf Fragen der Therapie eingegangen; mit Clont^® steht ein auch im Säuglings-und Kindesalter gut wirksames und verträgliches Medikament zur Verfügung.

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Summary In vulvovaginitis of the child the percentage of infections by Trichomonas vaginalis is much smaller than in adult patients. A case of trichomonas — colpitis in a newborn girl is reported, presumably acquired paranatally. After a review of the organisms causing vulvovaginitis the developmental changes of the vagina are discussed. In addition to epidemiologic factors these seem to be important for the rare occurrence of trichomonas-colpitis in childhood. Finally the problems of therapy are discussed: Clont^® (Metronidazol) is effective and well tolerated in infants and children.

     

Eine besondere Verlaufsform bei Calcinosis universalis

Ohne ZusammenfassungMit 2 Textabbildungen.