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Introduction Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, the spinal cord, and the retina, occurring sporadically or associated with the autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children or adults with VHL disease have one of > 300 known germline mutations of the VHL gene located on chromosome 3. They are prone to develop hemangioblastomas, extremely rarely starting at age 6, rarely at age 12–18, and, typically and almost all, as adults. There is a plethora of VHL-associated tumors and cysts, mainly in the kidney, pancreas, adrenals, reproductive organs, and central nervous system. Due to a lack of causal treatment, alleviation of symptoms and prevention of permanent neurological deficits as well as malignant transformation are the main task. Paucity of data and the nonlinear course of tumor progression make management of pediatric VHL patients with hemangioblastomas challenging. Methods The Freiburg surveillance protocol was developed by combining data from the literature and our experience of examinations of > 300 VHL patients per year at our university VHL center. Results Key recommendations are to start screening of patients at risk by funduscopy with dilated pupils for retinal tumors with admission to school and with MRI of the brain and spinal cord at age 14, then continue biannually until age 18, with emergency MRI in case of neurological symptoms. Indication for surgery remains personalized and should be approved by an experienced VHL board, but we regard neurological symptoms, rapid tumor growth, or critically large tumor/cyst sizes as the key indications to remove hemangioblastomas. Since repeated surgery on hemangioblastomas in VHL patients is not rare, modern neurosurgical techniques should encompass microsurgery, neuronavigation, intraoperative neuromonitoring, fluorescein dye-based intraoperative angiography, intraoperative ultrasound, and minimally invasive approaches, preceded in selected cases by endovascular embolization. Highly specialized neurosurgeons are able to achieve a very low risk of permanent morbidity for the removal of hemangioblastomas from the cerebellum and spinal cord. Small retinal tumors of the peripheral retina can be treated by laser coagulation, larger tumors by cryocoagulation or brachytherapy. Conclusion We consider management at experienced VHL centers mandatory and careful surveillance and monitoring of asymptomatic lesions are required to prevent unnecessary operations and minimize morbidity.

Der Pyruvatkinase(PK)-Mangel der Erythrozyten wird autosomal-rezessiv vererbt und durch Mutationen im PKLR-Gen verursacht. Das Gen kodiert fur das letzte Enzym der anaeroben Glykolyse der Erythrozyten, die Pyruvatkinase (PK-R [Pyruvatkinase-R-Isoform]). Die Folge ist eine nichtautoimmunvermittelte, nichtspharozytare hamolytische Anamie. Dieser Beitrag beleuchtet die klinischen, laborchemischen und molekulargenetischen Charakteristika von Patienten mit PK-Mangel in Deutschland. Mithilfe von standardisierten Fragebogen wurden von den 28 deutschen Patienten mit PK-Mangel, die alle an der PKD Natural History Study teilnahmen, retrospektiv Daten erhoben. Die Patienten wurden auserdem prospektiv uber einen Zeitraum von 2 Jahren beobachtet. Besondere Schwerpunkte wurden auf die Genotyp-Phanotyp-Korrelation sowie die Analyse der Lebensqualitat der Patienten mit PK-Mangel gelegt. Ziel dieses Beitrags ist es, die vielfaltigen klinischen und molekulargenetischen Eigenschaften dieser seltenen Erkrankung darzustellen, um durch eine erhohte Wachsamkeit die Erkrankung fruher zu diagnostizieren und adaquat zu behandeln.

Streptococcus mitis is a common pathogen causing infections in oncological patients. However, cases of abscesses caused by Streptococcus mitis in oncological patients have not been reported so far. We report on 5-year-old child with nephroblastoma and pulmonary and hepatic metastases at diagnosis who went into complete remission undergoing chemotherapy and nephrectomy, and who developed new round lesions in liver and lungs under continuous chemotherapy suggestive of new metastases. Biopsy of the lesions revealed abscesses with detection of Streptococcus mitis. The child was successfully treated with antibiotics, finished chemotherapy per protocol and has been in complete remission for 14 months. Infectious lesions involving organs of typical metastatic dissemination can easily be misdiagnosed as metastases, especially in the absence of symptoms. Histologic proof of lesions suspicious of metastases is mandatory if it leads to a change of prognosis and therapy. Streptococcus mitis can be a causative organism of pulmonary and hepatic abscesses in oncological patients.