Klaus Brühl

Cerebral haemorrhage in long-term survivors of childhood acute lymphoblastic leukaemia

Abstract Modern treatment of childhood acute lymphoblastic leukaemia (ALL) has dramatically improved the prognosis for children with this disease. Therapeutic approaches consist of multimodal chemotherapy and radiotherapy with significant long-term side-effects. We report on 4 children out of a group of 120 newly diagnosed patients with ALL, who survived the disease for more than 2 years and developed a cerebral haemorrhage after chemotherapy and fractionated cranial irradiation. Following a period of 2–12 years the four children presented with acute neurological signs and symptoms, i.e. seizures, ataxia and hemiparesis. CT and MRI revealed intracerebral mass lesions, interpreted as haemorrhage. After neurosurgery the patients neurological state improved. Histological examination confirmed the suspected diagnosis of bleeding cavernous haemangioma or capillary telangiectases. There are two possibilities to explain these rare alterations: they may be pre-existent to the disease and therapy or they may be caused by irradiation. Conclusion Acute neurological symptoms in patients treated for ALL may be caused by spontaneous cerebral haemorrhaging of cavernous haemangiomas or capillary telangiectases induced by chemotherapy and/or radiotherapy.

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children : impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction

Abstract In order to investigate the diagnostic properties of MRI of the brain and spine in achondroplastic children with regard to decompressive surgery, 25 patients were examined by conventional morphological and by “functional” imaging of CSF flow and magnetic resonance angiography (MRA) of the veins and sinuses at the cranial base following a special protocol. The results were compared to those from age-matched controls and were correlated with each other and retrospectively with the neurological findings. Measurements of distances and angulations at the cranio-cervical junction (CCJ) from MR scans showed similar values to those from conventional radiographs and CTs and thus can be used without correction for spatial distorsion. Signs of cervical medullary compression, myelomalacia and intramedullary cyst formation were found in six, seven and three children respectively. These alterations correlated significantly with each other (P < 0.05). Semiquantitative evaluation of CSF flow demonstrated interruption of CSF pathways at the CCJ, which correlated with CCJ narrowing (P < 0.05). MRA showed a significant narrowing of the jugular foramina with a variable compensatory enlargement of the emissary veins and a significant reduction of the total outflow area (P < 0.01). There were no significant correlations between these MR changes and neurological deficits. Conclusion Due to this unexpectedly poor correlation between magnetic resonance and clinical findings in achondroplastic children, the present role of magnetic resonance in the clinical setting is limited to the demonstration of spinal cord compression in individual cases. In three of our patients with prominent neurological abnormalities, the severe changes demonstrated by magnetic resonance imaging strongly supported the indication for surgical decompression.

Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia

Abstract Children with achondroplasia may have high cervical myelopathy due to stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials (SEPs) after median nerve stimulation in 30 patients with achondroplasia aged 13 months to 18 years (mean 6 years). In addition to the conventional technique of recording the cortical N20 and the central conduction time (CCT), we employed a noncephalic reference electrode recording the subcortical waveforms N13b and P13, generated near the cranio-cervical junction. The findings were related to the clinical status and MRI results. Eighteen patients had MRI evidence of spinal cord compression with indentation or narrowing of the upper cervical cord, and 13 showed signs of myelomalacia. Seven patients had neurological abnormalities. The sensitivities of the SEPs were 0.89 for cervical cord compression, 0.92 for myelomalacia and 1.0 for the clinically symptomatic patients. There were no false-positive results. The subcortical SEPs were more sensitive than the conventional recordings. However, the conventional SEPs were highly specific in the most severely affected patients; here the specificity was 1.0 for patients with myelomalacia and 0.96 for symptomatic patients. Postoperative SEPs improved after occipital decompression in two children. Conclusion The analysis of somatosensory evoked potentials, in particular of subcortical tracings, is useful in the detection of early cervical myelopathy in children with achondroplasia. Early neurosurgical decompression may prevent irreversible damage.

Clinical aspects and prognosis of ependymoma in infants and children. A single institution experience.

Abstract Thirty-two patients (22 boys and 10 girls) with a histologically confirmed diagnosis of ependymoma were treated between 1972 and 1999. A total macroscopic resection was achieved in 16 of these patients, whereas 15 resections were classified by the surgeon as subtotal. In 1 patient a ventriculostomy was created as part of a palliative strategy. All children over 3 years old were treated with postoperative radiotherapy. Chemotherapy consisted of procarbazine, ifosfamide, etoposide, methotrexate, cisplatin and cytosine arabinoside. There was 1 perioperative death. Twenty children developed a relapse of disease within 2 months to 13 years and 1 month after the initial therapy. A maximal number of five recurrences were seen in 1 patient. The value of adjuvant chemotherapy on the prognosis of children with ependymoma seems to be limited. With regard to the poor outcome, the advisability of further treatment after multiple recurrences is debatable.

A sphenoorbital encephalocele — clinical, radiological, and morphological findings

We report here on congenital sphenoorbital encephalocele which could not be disclosed by computed tomography including contrast medium application or by orbital sonography. Surgery and histological examination were necessary to establish correct the diagnosis.

Congenital diastematomyelia in the upper thoracic spine. Diagnostic comparison of CT, CT-myelography, MRI, and US

Diastematomyelia (DM) in the upper thoracic spine is a rare congenital abnormality.The case presented is a comparison of CT, CT myelography, magnetic resonance imaging (MRI), and high resolution ultrasound imaging (US) in a female newborn.

Orbital rhabdomyosarcoma in childhood

Background: Rhabdomyosarcoma is the most common malignant orbital tumor in children. Treatment modalities (individualized therapy or study protocol) have been changed radically. Surgery was supplemented by radiation therapy and chemotherapy. The objective of our retrospective analysis was to define the prognosis in correlation to changes of treatment in an unselected patient group of a single institution. Patients and methods: Between 1954 and 1995, 18 patients (age at presentation 1 month to 17 years, 11 male and 7 females) with orbital rhabdomyosarcoma were diagnosed and treated at our institution. Results: The 5-year survival rate was 76 %. Primary exenteration was replaced by tumor resection (microsurgery), radiation therapy and chemotherapy. Favorable outcome in the precytostatic era (with permanent loss of function) was not significantly improved by polychemotherapy. Microsurgery seems to increase the risk of recurrence. Conclusion: Considering the high risk of recurrence, primary exenteration in selected patients with expanded primary tumor is still a therapeutic option.Fragestellung: Rhabdomyosarkome sind die häufigsten malignen Tumoren der Orbita im Kindesalter. Die Behandlungskonzepte (Individualtherapie, Studienprotokolle) der Erkrankung haben sich deutlich verändert. Operative Verfahren wurden um Radio- und Chemotherapie erweitert. Ziel der retrospektiven Analyse war es, anhand eines selektionsfreien Patientenkollektivs Auswirkungen der veränderten Therapie auf die Prognose darzustellen. Patienten und Methode: An unserer Klinik wurden zwischen 1954 und 1995 insgesamt 18 Patienten (Alter bei der Diagnose 1 Monat bis 17 Jahre, 11 Knaben und 7 Mädchen) mit orbitalem Rhabdomyosarkom diagnostiziert und therapiert. Ergebnisse: Die 5-Jahres-Überlebensrate liegt insgesamt bei 76 %. Die primäre Exenteratio orbitae wurde von Tumorresektion (mikrochirurgisch), Radiotherapie und Chemotherapie abgelöst. Die Heilungsrate war bereits in der vorzytostatischen Ära bei der Inkaufnahme eines dauerhaften Funktionsverlusts ähnlich günstig wie nach Einführung der Polychemotherapie. Beim mikrochirurgischen Vorgehen erscheint das Rezidivrisiko erhöht. Schlußfolgerung: Bei einem ausgeprägten Primärbefund hat die Exenteratio orbitae wegen des hohen Rezidivrisikos weiterhin ihre Berechtigung.

Confluens-sinuum-Obstruktion durch Langerhanszell-Histiozytose

ZusammenfassungDie Langerhanszell-Histiozytose, bis vor wenigen Jahren als Histiozytose X bezeichnet, umfaßt 3 verschiedene Syndrome, nämlich das eosinophile Granulom, die Hand-Schüller-Christian-Krankheit sowie die Abt-Letterer-Siwe-Krankheit, und gehört zu den seltenen Erkrankungen des Kindesalters. Wir berichten über einen 10 jährigen Jungen, der mit einer Schwellung am Hinterkopf und beginnender Hirndrucksymptomatik zur stationären Aufnahme kam. Klinik, konventionelle radiologische Diagnostik und Computertomographie ließen differentialdiagnostisch ein eosinophiles Granulom als wahrscheinlich erscheinen. MRT und MRT-Angiographie zeigten jedoch die akute Bedrohung des Patienten durch das intrakraniale Wachstum der Raumforderung mit weitestgehender Obstruktion des Confluens sinuum. Thrombose bzw. Blutungsrisiko konnten durch eine frühzeitige und komplette Exstirpation des Tumors vermieden werden. Rezidive wurden innerhalb von 2 Jahren Nachbetreuung nicht beobachtet.SummaryThe term Langerhans cell histiocytosis, previously “Histiocytosis X”, encompasses three different syndromes: eosinophilic granuloma of bone, Hand-Schüller-Christian disease and Abt-Letterer Siwe disease. All are rare manifestations in childhood. We report on a 10 year old boy presenting with a swelling in the occipital region and clinical signs of elevated intracranial pressure. The tentative diagnosis after examination, conventional radiologic procedures and computerized tomography was eosinophilic granuloma. Magnetic resonance imaging and magnetic resonance imaging-angiography revealed the acute threat to the child caused by the intracranial expanding mass lesion with almost complete obstruction of the confluens sinuum. Thrombosis and the risk of bleeding were decreased by early and complete exstirpation of the tumor. After two years follow-up, no new lesions had appeared.