Techniques in Pediatric Surgery: Congenital Hyperinsulinism

For surgery in congenital hyperinsulinism (CHI), a distinct surgical strategy and technique is required for focal, diffuse and atypical CHI. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results of surgical therapy are unpredictable and cure is an exception. Therefore, a strong tendency exists nowadays that medical therapy should be preferred in diffuse CHI. In atypical CHI the situation is more complex: if the focal lesion or the segmental mosaic are not too extensive, cure by resection should be possible. But care must be taken in atypical cases not to resect too much of the gland in order not to induce diabetes

Clinical and Genetic Evaluation of Patients with KATP Channel Mutations from the German Registry for Congenital Hyperinsulinism

Congenital hyperinsulinism (CHI) causes hypoglycemia due to irregular insulin secretion. In infants, a rapid diagnosis and appropriate management to avoid severe hypoglycemia is mandatory. CHI is a heterogeneous condition at the clinical and genetic level, and disease-causing genes have been identified in about half of the patients. The majority of mutations have been identified in the ABCC8 and KCNJ11 genes encoding subunits of the KATP channel responsible for two distinct histological forms. The diffuse form is caused by autosomal recessive or dominant inherited mutations, whereas the focal form is caused by a paternally transmitted recessive mutation and a second somatic event. We report on an unselected cohort of 136 unrelated patients from the German CHI registry. Mutations in either the ABCC8 or KCNJ11 gene were identified in 61 of these patients (45%). In total, 64 different mutations including 38 novel ones were detected in this cohort. We observed biparental (recessive) inheritance in 34% of mutation-positive patients, dominant inheritance in 11% and paternal transmission of a mutation associated with a focal CHI type in 38%. In addition, we observed inheritance patterns that do not exactly follow the classical recessive or dominant mode, further adding to the genetic complexity of this disease

Pasireotide treatment for severe congenital hyper-insulinism due to a homozygous ABCC8 mutation

ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI

Assessing Cognitive Development with the Kaufman Assessment Battery for Children (K-ABC): A Pilot Study with Speech- and Language-Disordered Children

29 sprachentwicklungsgestörte Kinder zwischen 7;4 und 11; 11 Jahren, die sich in Behandlung auf einer kinderpsychiatrischen Station befanden, wurden mit der Kaufman Assessment Battery for Children, einem neuen Test zur Intelligenzbeurteilung, der demnächst im deutschen Sprachraum zur Verfügung stehen wird, untersucht. An Hand von Korrelationen wurden die Testergebnisse dieser Kinder mit Daten aus HAWIK-R, AID und Raven verglichen; des weiteren wurde geprüft, ob ein Leistungsunterschied zwischen Aufgaben, die einzelheitliches bzw. ganzheitliches Verarbeiten voraussetzen, besteht. Die Ergebnisse lassen erwarten, dass mit diesem Verfahren die intellektuelle Kapazität solcher Kinder trotz des verbalen Handicaps auf einer breiteren Basis beurteilt und Hinweise zur adäquaten Forderung erzielt werden können. (DIPF/ Orig.)The German version of the Kaufman Assessment Battery for Children, which will soon be available commercially, was administered to 29 children with developmental speech and language disorders between 7,4 and 11,11 years of age who were patients on an inpatient child psychiatry unit. The correlations of the test results with the WISC-R (German version), the AID (a German intelligence test) and the Raven Coloured Progressive Matrices were calculated, furthermore, an assessment was made for differences in Performance on tasks requiring sequential processing and those requiring simultaneous processing. The results of the study indicate that the K-ABC enables a relatively broad-based assessment of cognitive development in speech- and language-disordered children despite the children\u27s verbal handicaps and that the Instrument yields information of relevance in planning remedial programs. (DIPF/ Orig.

Techniques in Pediatric Surgery: Congenital Hyperinsulinism

For surgery in congenital hyperinsulinism (CHI), a distinct surgical strategy and technique is required for focal, diffuse and atypical CHI. In focal CHI, a confined, localized and parenchyma-sparing resection which is guided by the PET-CT is always indicated in order to cure the patient. In diffuse CHI, however, the results of surgical therapy are unpredictable and cure is an exception. Therefore, a strong tendency exists nowadays that medical therapy should be preferred in diffuse CHI. In atypical CHI the situation is more complex: if the focal lesion or the segmental mosaic are not too extensive, cure by resection should be possible. But care must be taken in atypical cases not to resect too much of the gland in order not to induce diabetes

A rare case of an isolated triquetrum body fracture in a 14-year-old boy

Isolated carpal fractures are uncommon injuries usually caused by a fall on the outstretched hand. The patient might present with non-specific clinical signs and X-ray diagnosis might be difficult due to bone overlay. An isolated triquetrum body fracture is an absolute rarity. The treatment is easy and the outcome excellent but if missed, degenerative changes with chronic pain and impaired movement might be the consequence.Key words: Carpal bone fracture, triquetrum bone fracture, wrist fractur