Morpheaartige Hautmanifestation einer Sarkoidose : Morpheaform skin lesions in sarcoidosis.

Sarcoidosis is an idiopathic systemic disease, which is characterized by the presence of non-caseating granulomas in the affected organs. Cutaneous manifestations are frequently the first clue to the diagnosis; however, the clinical picture of the lesions is heterogenous. Here we report on a 66-year-old woman with localized indurations of the skin on both forearms that were diagnosed as a rare morphea-like skin involvement of a systemic sarcoidosis.

Inhibition of NGF-induced neurite outgrowth of rat pheochromocytoma cells (PC12) following administration of dioxyamphetamine.

Amphetamine analogs are known to induce not only neurotoxicity at serotonergic axon terminals but also neocortical neuronal degeneration. However, a much less studied aspect involves the impact of amphetamine exposure on neuronal development. The present study investigated whether pretreatment of PC12 cells with dioxyamphetamine (DA) alters differentiation of PC12 cells by NGF and, if so, which components of the Ras/Raf/MEK/ERK pathway known to be involved in the differentiation response to NGF are particularly affected. Though exposure of PC12 cells to DA 1h prior to NGF treatment resulted in apopotosis, several PC12 cells survived. However, neurite outgrowth of these NGF-responsive cells was repressed. Immunoblots of whole cell extracts revealed a strong induction rather than inhibition of ERK phosphorylation up to 48h after DA/NGF treatment. Our results indicate that NGF-mediated neurite outgrowth was inhibited by pretreatment with DA, and this blockage of NGF-induced neuritogenesis was not due to an inhibition of ERK phosphorylation.

[Sellar tumors]. / Tumoren der Sellaregion.

Because of the complex anatomy, examination of the sella turcica and hypophysis needs a dedicated MR sequence protocol. Not every sellar lesion is a pituitary adenoma. Thus, this review article summarizes the most frequently encountered intra-, supra-, and parasellar tumors and lesions. Differential diagnoses comprise besides adenoma among others craniopharyngioma, meningioma, glioma, germinoma, hamartoma, aneurysm, trigeminal schwannoma, pituitary carcinoma, chordoma, metastasis, infection, and empty sella. Characteristic imaging findings are presented and correlated to micro- and macro-pathology.

[Atypical monoclonal plasma cell hyperplasia. Infiltration of ZNS]. / Atypische monoklonale Plasmazellhyperplasie. Infiltration des ZNS.

Atypical monoclonal plasma cell hyperplasia is extremely rare in the central nervous system without involvement of bone or other systemic disease. This neuropathological entity was first described by Weidenheim and colleagues in 1989. It is considered an inflammatory pseudotumor that can evolve into malignant myeloma. We report on an atypical monoclonal plasma cell hyperplasia with bilateral occipital and cerebellar involvement in a 38-year-old woman. The diagnosis was confirmed by brain biopsy immunohistochemical and molecular tests.

Diagnostic performance of spectroscopic and perfusion MRI for distinction of brain tumors.

OBJECTIVE: To assess the value of spectroscopic and perfusion MRI for glioma grading and for distinguishing glioblastomas from metastases and from CNS lymphomas. METHODS: The authors examined 79 consecutive patients with first detection of a brain neoplasm on nonenhanced CT scans and no therapy prior to evaluation. Spectroscopic MRI; arterial spin-labeling MRI for measuring cerebral blood flow (CBF); first-pass dynamic, susceptibility-weighted, contrast-enhanced MRI for measuring cerebral blood volume; and T1-weighted dynamic contrast-enhanced MRI were performed. Receiver operating characteristic analysis was performed, and optimum thresholds for tumor classification and glioma grading were determined. RESULTS: Perfusion MRI had a higher diagnostic performance than spectroscopic MRI. Because of a significantly higher tumor blood flow in glioblastomas compared with CNS lymphomas, a threshold value of 1.2 for CBF provided sensitivity of 97%, specificity of 80%, positive predictive value (PPV) of 94%, and negative predictive value (NPV) of 89%. Because CBF was significantly higher in peritumoral nonenhancing T2-hyperintense regions of glioblastomas compared with metastases, a threshold value of 0.5 for CBF provided sensitivity, specificity, PPV, and NPV of 100%, 71%, 94%, and 100%. Glioblastomas had the highest tumor blood flow values among all other glioma grades. For discrimination of glioblastomas from grade 3 gliomas, sensitivity was 97%, specificity was 50%, PPV was 84%, and NPV was 86% (CBF threshold value of 1.4), and for discrimination of glioblastomas from grade 2 gliomas, sensitivity was 94%, specificity was 78%, PPV was 94%, and NPV was 78% (CBF threshold value of 1.6). CONCLUSION: Perfusion MRI is predictive in distinguishing glioblastomas from metastases, CNS lymphomas and other gliomas vs MRI and magnetic resonance spectroscopy.

Hemorrhagic acoustic schwannoma: radiological and histopathological findings.

A 49-year-old man on anticoagulation treatment with phenprocoumon presented with acute right sided 7th and 8th cranial nerve palsy, acute hearing loss, headache, vertigo, and vomiting. CT and MRI revealed a cerebellopontine angle tumor 15mm in diameter and acute intratumoral hematoma. A cellular schwannoma composed predominantly of Antoni A tissue with dilated thin-walled vessels, surrounded by old hemorrhage with hemosiderin-laden macrophages was found histologically.

Fatal subarachnoid hemorrhage after carotid stenting.

BACKGROUND AND PURPOSE: Cerebral hyperperfusion syndrome with intracerebral hemorrhage (ICH) following carotid angioplasty and stent placement (CAS) of the internal carotid artery (ICA) is well known. We report the occurrence of fatal subarachnoid hemorrhage in a patient undergoing CAS. CASE REPORT: A 77-year-old woman experiencing a left-hemispheric transient ischemic attack underwent CAS for a 95% stenosis of the left ICA. CAS was performed without acute complications. At 5 hours the patient suddenly deteriorated. Her level of consciousness changed and she developed neck stiffness. CT of the brain revealed diffuse SAH with acute hydrocephalus. CONCLUSIONS: Like ICH, SAH may develop as a severe complication after CAS. There are no reliable clinical symptoms preceding this fatal complication. However, several factors such as long-standing severe carotid stenosis with contralateral occlusion and increasing blood pressure after CAS accompanied by the extensive use of antithrombotic agents may predispose to this fatal complication.

[Does the result of thrombolysis with recombinant tissue-type plasminogen activator (rt-PA) in rabbits depend on the erythrocyte- and fibrin-content of a thrombus?]. / Hängt das Ergebnis einer Thrombolyse mit rekombinantem Gewebe-Plasminogenaktivator (rt-PA) beim Kaninchen vom Erythrozyten- und Fibringehalt eines Thrombus ab?

PURPOSE: It is known from autopsy studies that thromboembolic stroke can be caused by red, white and mixed clots. We therefore examined whether the efficacy of thrombolysis with recombinant tissue-type plasminogen activator (rt-PA) depends on the proportions of fibrin and erythrocytes within thromboembolic material. METHODS: In 23 rabbits intraarterial thrombolysis with 3 mg rt-PA/kg body weight was started 30 minutes after middle cerebral artery occlusion with either red or white autologous emboli 20 hours old. 20 rabbits served as control. Cerebral perfusion was monitored by MRI. RESULTS: rt-PA enhanced lysis of red but not of white emboli and decreased the infarct volume only if vascular occlusion was due to red emboli (p <.01). Cerebral perfusion improved only in the red treatment group where the normalized first moment (NFM) decreased (p <.05) and the relative regional cerebral blood volume (rrCBV) reached normal values (p <.05). CONCLUSION: We suggest that in our animal model the efficacy of thrombolysis increases with the proportion of erythrocytes within thromboembolic material and decreases with its content of fibrin. lf these findings would also be applicable to patients, pretherapeutic estimation of the efficacy of thrombolysis might become feasible because the CT values of red and white thrombi differ.

Intramedullary subependymoma of the lower spinal cord.

A 22-year-old woman developed an increasing distal paraparesis, which resulted in a severe ataxic gait. MRI demonstrated a very large intramedullary tumour mass from D11 to L2, which could not be identified as one of the common neoplastic diseases of the spinal cord. The tumour was removed completely and the diagnosis of subependymoma confirmed. With respect to our patient and to the limited reports in the literature, we describe some typical features that may help in the diagnostic and preoperative assessment of this very rare spinal cord tumour.

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.

We report a Turkish family with parental consanguinity and at risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency. The proband was a premature male infant that presented with hydrops, hepatomegaly, respiratory distress syndrome, and anemia and that died of respiratory insufficiency 2 months after birth despite intensive care. An abnormally increased [14C]methylamine incorporation and an isolated deficiency of lysosomal alpha-N-acetyl-neuraminidase were found in cultured skin fibroblasts. A previous pregnancy of the mother terminated in a spontaneous abortion in the 13th week of gestation. A successive pregnancy showed hydrops fetalis, and an enzymatic assay of cultured amniotic fluid cells indicated a deficiency of alpha-N-acetyl-neuraminidase. Following pregnancy termination at 20 weeks gestation, light microscopy of fetal tissues revealed classic vacuolation not only in liver, bone marrow, brain, and kidney, but also in endocrine organs such as the thyroid gland, adrenal gland, hypophysis, and testes, and in the thymus. DNA analysis of the family showed that both the proband and the third sibling had a novel homozygous nonsense point mutation at nucleotide 87 in exon 1 of the alpha-N-acetyl-neuraminidase (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X). DNA sequencing of polymerase chain reaction products identified the parents as heterozygous carriers. To detect neu1 mRNA expression, a real-time reverse transcription/polymerase chain reaction was performed, and similar rates of neu1 mRNA expression were found in the fibroblasts of the fetus, the 2nd sibling, and in controls. The very early termination codon with complete loss of neuraminidase activity is probably the molecular basis of the unusually severe vacuolation pattern in this form of congenital sialidosis.

Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification.

We report a 25-week fetus with lethal Ellis-van Creveld syndrome who was diagnosed prenatally from the US detection of a narrow chest, postaxial polydactyly of the hands, short acro-/mesomelic limbs and a ventricular septal defect. The postnatal radiographic features of the skeleton confirmed the diagnosis. Literature review of the histopathology of the physeal growth plate is contradictory, varying between retardation of the hypertrophic chondrocytes without disorganization and marked disorganization of the proliferating chondrocytes. We investigated numerous sites of the enchondral ossification and observed retardation of the physeal growth plate in all sites and retardation with pronounced disorganization of the physeal growth plate in the upper mesomelic bone segments only. These data support the concept that Ellis-van Creveld syndrome is mainly a generalized disorder of the maturation of enchondral ossification.

Norman-Roberts syndrome: prenatal diagnosis and autopsy findings.

We report on the autopsy findings of a male fetus in the 27th week of gestation with Norman-Roberts syndrome. The unaffected parents are first cousins and have a five-year-old child with a low, sloping forehead, broad and prominent nasal bridge, widely set eyes, severe psychomotor retardation, and an agyric cortex. Prenatal diagnosis showed a small head at the 25th week of gestation. At this time, a slowing-down of the growth of the sonographic measurements of the biparietal diameter and head circumference was found. Both the biparietal diameter (57 mm, <5th percentile) and the head circumference (207 mm, <5th percentile) showed a delay of at least two weeks in comparison with other non-cephalic somatometric parameters, that were normal for the gestational age (femur length: 46 mm=median value). After termination of pregnancy, post-mortem examination showed a normotrophic fetus with microcrania and marked microcephaly (brain weight: 50 g), low, sloping forehead, broad and prominent nasal bridge, and widely set eyes. The cerebral hemispheres displayed an almost completely smooth surface with poorly defined sylvian fissures and failure of operculization of the insula. Microscopic examination showed a predominantly four-layered cortex (lissencephaly type I). Karyotype was normal and in situ hybridization did not show any deletion in the Miller-Dieker/isolated lissencephaly critical region on 17p13.3. The syndromes with lissencephaly are reviewed.

Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.

A Syrian newborn with coarse facies, hepato-splenomegaly, and refractory ascites is reported. Examination of the ascitic fluid showed vacuolated lymphocytes and thin-layer chromatography of urinary oligosaccharides revealed an abnormal pattern indicative of sialidosis. Despite intensive care, the baby died of respiratory insufficiency 28 days after birth. In cultured skin fibroblasts an increase of the incorporation of [14C]methylamine pointed to excessive lysosomal storage and the demonstration of an isolated deficiency of alpha-N-acetylneuraminidase (sialidase) led to the diagnosis of a sialidosis. At postmortem examination, foam cells were found mostly in bone marrow, liver, and brain. To date very few cases of neonatal sialidosis have been reported, and, to the best of our knowledge, this is the first child with neonatal sialidosis from Syria and the first case of neonatal sialidosis studied by the [14C]methylamine incorporation assay.

Massive lethal cerebral bleeding in a patient with melanoma without intracranial metastasis.

The case history is reported of a patient with melanoma and advanced metastases, who died from massive cerebral bleeding. The lethal event was not caused by intracerebral metastasis but by thrombocytopenia. Depression of the bone marrow resulted from tumour infiltration of the skeleton, chemotherapy and vertebral irradiation. An increase of intracranial pressure triggered the cerebral bleeding, caused by haematemesis from a gastric metastasis directly preceding sudden somnolence.