Peter Haller

Hereditary Abductor-Opponens Agenesis

ZusammenfassungEs wird über eine Familie mit autosomal dominanter Abductor-Opponents-Agenesie berichtet. Die Störung manifestierte sich bei 3 Familienmitgliedern isoliert einseitig an der linken Hand. Ein Familienmitglied klagte über zunehmende Kraftminderung der oberen und unteren Extremitäten. Es bestanden beidseitige angeborene Ptose und eine beidseitige angeborene Abductor-Opponens-Agenesie. Die Pathogenese dieser bisher noch nicht beschriebenen Erbkrankheit wird diskutiert.

Epileptische Anfälle bei Hirngeschwülsten

SummaryAfter our work on the diagnostic value of epileptic seizures for location and morphology of brain tumors, the records of the same 946 patients were reviewed for any diagnostic value of the type of convulsive seizures. Again IBM computer 360/67 (program “Paula”) was used for the data processing.The type of convulsive seizures depends on the location of the tumor. Grand mal occurs most often with tumors of the frontal lobe but quite frequently with tumors in other locations. Occasionally they are seen with tumors expanding into the temporal or occipital lobe only. If Jacksonian epilepsy occurs, the tumor may be located in the frontoparietal or parieto-occipital area but is most often in the parietal area only. If the patient suffers from psychomotor epilepsy, the tumor is usually expanding into the temporal lobe or the frontotemporal or temporo-occipital area.The combination of grand mal with Jacksonian epilepsy is most often seen with tumors of the frontal and the parietal lobe, while grand mal and psychomotor epilepsy frequently occur together with tumors of frontal and temporal lobe. Expansion into subcortical regions often favors the manifestation of both combinations. Psychomotor epilepsy alone is frequently found with temporal tumors and Jacksonian epilepsy alone with parietal tumors, whereas the occurrence of isolated grand mal is independent of the location of the tumor.However, the type of the seizures also depends on the type of the tumor. Isolated psychomotor epilepsy is most often seen with astrozytomas of the frontal or temporal lobe. In addition, the combination of psychomotor and Jacksonian epilepsy and the combination of all three types of convulsions only occur in astrozytomas of the temporal lobe. If grand mal and psychomotor epilepsy appear, the tumor is most often an oligodendroglioma situated either in the frontotemporal lobe or in the temporo-occipital area. This combination is also often seen in astrozytomas of the temporal lobe. Grand mal and Jacksonian epilepsy are frequently found with frontal or parietal meningeomas, oligodendrogliomas or astrozytomas. If Jacksonian epilepsy occurs alone, the tumor is likely to be a meningeoma, metastasis, glioblastoma or astrozytoma of the parietal lobe. Isolated grand mal has no diagnostic value for the morphology.ZusammenfassungIn Ergänzung zu den jüngst in dieser Zeitschrift mitgeteilten ersten Ergebnissen unserer Untersuchung über die „Tumorepilepsie“ wurde der diagnostische Wert verschiedener Anfallsformen für Topik und Morphologie intrakranieller Blastome geprüft. Hierbei hat sich ergeben:1.Der Anfallstyp wird, wie zu erwarten war, von der Geschwulstlokalisation bestimmt. Grand mal werden am häufigsten von Stirnhirngeschwülsten hervorgerufen. Sie kommen jedoch überzufällig häufig auch bei anders lokalisierten Geschwülsten vor, nur nicht bei solchen, die isoliert im Temporal- oder Occipitallappen gelegen sind. Das Auftreten fokal-motorischer Anfälle ist an einen Geschwulstsitz in der Zentroparietalregion oder den angrenzenden Hirnregionen geknüpft. Psychomotorische Anfälle weisen auf einen frontotemporalen, temporalen oder temporooccipitalen Geschwulstsitz hin.2.Darüber hinaus läßt sich nachweisen, daß die Häufigkeit der verschiedenen Anfallsformen auch von der Morphologie der Geschwülste abhängt. Offensichtlich ebnen die einzelnen Geschwülste verschiedenen Anfallsarten den Weg. Bemerkenswert ist, daß isolierte psychomotorische Anfälle nur bei frontal oder temporal ausgebreiteten Astrocytomen überzufällig häufig zur Beobachtung gelangen.3.Die im einzelnen aufgezeigten Beziehungen machen wahrscheinlich, daß die phylogenetisch jüngsten und ontogenetisch spätentwickeltsten Hirnanteile die niedrigste Krampfschwelle und die geringste Fähigkeit zur Eingrenzung einer einmal entstandenen Krampfaktivität haben.

Zur Problematik der Früherkennung von Hirngeschwülsten, die als einziges Symptom epileptische Anfälle hervorrufen

SummaryThe diagnosis of brain tumour could not be made in 91 cases at the first investigation in a group of 1155 brain tumours. Slowly growing gliomas causing only epileptic fits and no other symptoms are especially difficult to diagnose.Of 21 personal observations of tumour seizures, in which the diagnosis of the neoplasm was missed at the first investigation in hospital, 9 were oligodendrogliomas, 5 astrocytomas, 3 glioblastomas, 2 spongioblastomas, 1 gangliocytoma and 1 a metastasis. They were all located in the frontal or centroparietal region. In most cases the seizures appeared during the third or fourth decade. The average interval between the first epileptic fit and the tumour diagnosis was 8.2 years in cases of oligodendrogliomas and 2.2 years in astrocytomas.5 patients had major seizures, 2 had psychomotor attacks and all the others suffered from partial epilepsy. Anticonvulsive therapy was often successfull; either the frequency of the fits diminished or, in 2 cases, the character of the seizures changed.18 patients had a normal neurostatus at time of the first investigation. Only 3 patients had a slight difference of physiological reflexes, but no other pathological signs. In none of the patients did investigation of the CSF, skull X-rays, brain scanning, pneumencephalography or cerebral angiography first lead to the diagnosis of a brain tumour. The EEG alone showed focal signs corresponding to the location of the tumour in about 50% of the cases.ZusammenfassungVon 1155 Hirngeschwülsten war in 91 Fällen die Diagnose bei der ersten stationären Durchuntersuchung in einer neurologischen Klinik nicht gestellt worden. Insbesondere langsam wachsende Gliome, die zunächst lediglich epileptische Anfälle hervorrufen, entziehen sich leicht dem Nachweis.An Hand von 21 eigene Beobachtungen, bei denen sich die zugrundeliegende Geschwulst zunächst nicht hat fassen lassen, werden die bei der Früherkennung der Tumorepilepsie anstehenden Probleme besprochen.The diagnosis of brain tumour could not be made in 91 cases at the first investigation in a group of 1155 brain tumours. Slowly growing gliomas causing only epileptic fits and no other symptoms are especially difficult to diagnose. Of 21 personal observations of tumour seizures, in which the diagnosis of the neoplasm was missed at the first investigation in hospital, 9 were oligodendrogliomas, 5 astrocytomas, 3 glioblastomas, 2 spongioblastomas, 1 gangliocytoma and 1 a metastasis. They were all located in the frontal or centroparietal region. In most cases the seizures appeared during the third or fourth decade. The average interval between the first epileptic fit and the tumour diagnosis was 8.2 years in cases of oligodendrogliomas and 2.2 years in astrocytomas. 5 patients had major seizures, 2 had psychomotor attacks and all the others suffered from partial epilepsy. Anticonvulsive therapy was often successfull; either the frequency of the fits diminished or, in 2 cases, the character of the seizures changed. 18 patients had a normal neurostatus at time of the first investigation. Only 3 patients had a slight difference of physiological reflexes, but no other pathological signs. In none of the patients did investigation of the CSF, skull X-rays, brain scanning, pneumencephalography or cerebral angiography first lead to the diagnosis of a brain tumour. The EEG alone showed focal signs corresponding to the location of the tumour in about 50% of the cases.