Erich Reusche

Chordoid Glioma of the Third Ventricle: Immunohistochemical and Molecular Genetic Characterization of a Novel Tumor Entity

Chordoid glioma of the third ventricle was recently reported as a novel tumor entity of the central nervous system with characteristic clinical and histopathological features (Brat et al., J Neuropathol Exp Neurol 57: 283–290, 1998). Here, we report on a histopathological, immunohistochemical and molecular genetic analysis of five cases of this rare neoplasm. All tumors were immunohistochemically investigated for the expression of various differentiation antigens, the proliferation marker Ki‐67, and a panel of selected proto‐oncogene and tumor suppressor gene products. These studies revealed a strong expression of GFAP, vimentin, and CD34. In addition, most tumors contained small fractions of neoplastic cells immunoreactive for epithelial membrane antigen, S‐100 protein, or cytokeratins. The percentage of Ki‐67 positive cells was generally low (< 5%). All tumors showed immunoreactivity for the epidermal growth factor receptor and schwan‐nomin/merlin. There was no nuclear accumulation of the p53, p21 (Waf‐1) and Mdm2 proteins. To examine genomic alterations associated with the development of chordoid gliomas, we screened 4 tumors by comparative genomic hybridization (CGH) analysis. No chromosomal imbalances were detected. More focussed molecular genetic analyses revealed neither aberrations of the TP53 and CDKN2A tumor suppressor genes nor amplification of the EGFR, CDK4, and M DM2 proto‐oncogenes. Our data strongly support the hypothesis that chordoid glioma of the third ventricle constitutes a novel tumor entity characterized by distinct morphological and immunohistochemical features, as well as a lack of chromosomal and genetic alterations commonly found in other types of gliomas or in meningiomas.

A mild juvenile variant of type IV glycogenosis

The mild juvenile form of type IV glycogenosis, confirmed by a profound deficiency of the brancher enzyme in tissue specimens is reported from three Turkish male siblings who, foremost, suffered from chronic progressive myopathy. Muscle fibers contained polyglucosan inclusions of typical fine structure i.e. a mixture of granular and filamentous glycogen. They reacted strongly for myophosphorylase, but were resistant to diastase. These inclusions were ubiquitinated and reacted with antibody KM-279 which previously has been shown to bind to Lafora bodies, corpora amylacea and polyglucosan material in hepatic and cardiac cells of type IV glycogenosis as well as polyglucosan body myopathy without brancher enzyme deficiency. Our findings confirm that although rate, a mild form of type IV glycogenosis is marked by polyglucosan inclusion not only in myofibers, but also in smooth muscle and sweat gland epithelial cells. This further implies that when polyglucosan inclusions are observed within myofibers it is mandatory to examine the muscle tissue for brancher enzyme activity since the brancher enzyme activities in circulating erythrocytes and leucocytes were normal in all three affected siblings and their parents. Therefore, it can be concluded that the patients reported on here represent a variant form of type IV glycogenosis, in which the defect is limited to muscle tissue. This further indicates that there are several different types of type IV glycogenosis with variable clinical manifestations.

Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature

A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey‐scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post‐mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis.

Water‐Jet Dissection in Parotid Surgery: An Experimental Study in Dogs

Objective The objective of the present study was to investigate the application of the water‐jet dissection method in parotid surgery by way of animal experiments, paying particular attention to the clinical and histological reactions of the facial nerve.

First trimester diagnosis of holoprosencephaly with a Dandy-Walker malformation by transvaginal ultrasonography

Transvaginal ultrasonography allows a more detailed study of the structure of the embryo in the first trimester. This technique has permitted prenatal diagnosis of various congenital anomalies in recent years. Assessment of normal brain developmentt-3 and early detection of various fetal brain malformations have been described.4-7 We describe a singleton pregnancy in which holoprosencephaly associated with the Dandy-Walker malformation and a limb defect was diagnosed by transvaginal ultrasonography in the first trimester. All sonographic examinations were carried out using a 5 MHz high-frequency vaginal sonographic probe (Acuson 128 XP 10 ob; Acuson; Mountain View, CA).

Acute bleeding into a filum terminale ependymoma

We present a case of a 63-year-old male patient who was admitted to our hospital due to an acute compression syndrome of the cauda equina. He had complained about a sciatica for at least one year. CT-diagnosis appeared to be negative, whereas a lumbar myelogram revealed a complete block at L2/3. Emergency surgery was performed, and an ependymoma of the filum terminale was removed into which it had bled massively. The case is compared to the literature findings. These relate ependymomas in the described region with acute onset more often to symptoms caused by subarachnoid bleeding. Mechanical and/or histopathological factors are discussed as the cause of acute bleeding. Spinal ependymomas represent a rare event compared to other neurosurgical diseases. Even more seldom are tumors of this kind causing an acute cauda equina compression syndrome.

Prenatal Diagnosis of ‘True Tail’ with Cartilage Content?

A human tail is a rare congenital anomaly with a prominent lesion from the lumbosacrococcygeal region. According to Dao and Netzky human tails are classified into ‘true tails’ and ‘pseudotails’. True tails comprise only mesenchymal tissue (adipose, connective, muscle, nerve tissue, blood vessels, and cutis). They are presumed to be remnants of the embryologic tail. All other lumbosacrococcygeal protrusions are summarized as pseudotails. Superficially they may resemble true tails. They contain normal or abnormal tissue, e.g. cartilage, lipoma and glioma. We report a case of prenatal diagnosis of a human tail in association with omphalocele, hydrocephalus and antiphospholipid-antibody syndrome resulting in a severe fetal growth restriction. Due to cartilage content the appendage had to be classified as ‘pseudotail’. However, anatomical position and the decrease of length observed by consecutive ultrasound examinations at 14 and 21 weeks of gestation was suggestive of delayed regression of a ‘true tail’. Furthermore, the association of antiphospholipid-antibody syndrome with congenital malformations is discussed.

Lumbosacral glioblastoma and leptomeningeal gliomatosis complicating the course of a cervicothoracic astrocytoma WHO grade II

Case reportThe reported female patient underwent sub-total resection of an intra-medullary cervicothoracic astrocytoma classified as WHO grade II in 1984 at the age of 18 months and received local irradiation. In 1989, a local recurrence was diagnosed and a partial resection was performed. Sixteen years later, a small recurrent cervicothoracic tumour was found and spinal seeding to the equine nerve roots and the left cerebellar cortex was apparent on MRI. The patient was implanted with a ventriculoperitoneal shunt for a pseudo-tumour cerebri producing papilloedema, which eventually lead to amaurosis. After an extended biopsy, the invasive lumbosacral tumour was classified as glioblastoma multiforme. Two months later, the patient died after rapid progression of the caudal cranial nerve dysfunction.Discussion and conclusionAnaplastic progression and dissemination of spinal astrocytomas even two decades after initial diagnosis and treatment are rare. Therapies and diagnostic follow-up strategies are discussed.

Sudden death from primary intraventricular haemorrhage in childhood

Abstract We report on two girls, 10 and 13 years old, who died suddenly from ruptured vascular malformations of the choroid plexus. Both presented with headache, vomiting, loss of conciousness and coma. The rare cause of massive primary intraventricular haemorrhage and malignant, rapidly increasing brain pressure was not recognized. The communication highlights the urgency of an early accurate diagnosis with prompt surgical intervention.