Aggressive pituitary adenoma in the context of Lynch syndrome: a case report and literature review on this rare coincidence.

PURPOSE: Lynch Syndrome (LS) is a cancer-predisposing condition resulting from hereditary mutation of DNA mismatch repair genes. Gastrointestinal, urogenital, and endometrial carcinomas are well-known to predominantly occur in LS patients. In contrast, there are only few reports on brain tumours in the context of LS and to date intracranial tumour manifestation appear to be rather coincidental. METHODS: We present the case of a 56-year-old female developing aggressive lactotroph pituitary adenoma following a history of multiple Lynch-associated malignomas and having a confirmed MSH2 mutation. Furthermore, we performed a literature review via PubMed using the search terms 'Lynch Syndrome', 'HNPCC', 'MMR mutation' combined with 'intracranial tumour', 'sellar tumour', 'pituitary adenoma', or 'pituitary carcinoma', focusing on other reported cases and treatment regimens. RESULTS: A handful of studies have indicated an increased frequency of brain tumours in the context of LS, predominantly glioblastoma and less frequently low-grade glioma or other brain tumours. Based on our literature review, we summarized the known instances of pituitary adenoma in LS patients, including the present case. Furthermore, we reviewed the common recommendation of using temozolomide (TMZ) for treatment of aggressive pituitary adenoma or carcinoma and found strong indication that it might be insufficient in LS patients, while PD-1 blockade could be a promising treatment option. CONCLUSIONS: Combined with our case, there is a growing body of evidence that intracranial tumours and in particular those of the sellar region might be more prevalent in LS patients than previously assumed, due to their genetic profile substantially affecting viability and efficacy of treatment options. Clinical signs of aggressive tumour growth in combination with irresponsiveness to standard treatment in case of recurrence should lead to further diagnostic measures, because revelation of germline MMR mutations would call for an extended screening for other neoplastic manifestations and would markedly influence further treatment.

Steroid-Responsive Relapsing-Remitting Neutrophilic Encephalitis: A Case Report.

We report a case of a rapidly progressing, relapsing-remitting, steroid-responsive granulocytic encephalitis without any signs of peripheral nervous system or other organ involvement. It apparently had an immune-mediated etiology that could not be attributed to any known disease entity. A 22-year-old man presented with rapidly progressive severe neurological symptoms caused by encephalitis. Examination of the cerebrospinal fluid as well as brain biopsy showed extensive accumulation of neutrophilic granulocytes with no hints of an infectious agent. Magnetic resonance imaging revealed multiple T2/FLAIR demarcated lesions. Subsequent to a steroid pulse therapy, the clinical symptoms and imaging abnormalities improved rapidly. Ten months later, the patient experienced a disease relapse, which again responded well to steroids. Forty months after the relapse, he is currently doing well on azathioprine. This case highlights that an immunosuppressive treatment should be considered in patients with extensive neutrophilic encephalitis when no infectious agent is detected. A new immune-mediated relapsing-remitting CNS disease entity might need to be considered.

Operative correction and follow-up of craniofacial duplication.

BACKGROUND: Anterior craniofacial duplication (diprosopus) is an extremely rare form of conjoined twins. The children share a single trunk with normal extremities and varying degrees of facial malformation. Duplication of specific structures, such as the nose (diprosopus dirrhinus), eyes (diprosopus tetraophthalmus), and ears, is possible. The authors present a case of partial facial duplication (diprosopus dirrhinus) in a male infant. METHODS: The clinical and radiographic findings and the surgical correction and follow-up are described. RESULTS: In a single surgical session, the authors were able to achieve not only a functionally but also an aesthetically acceptable result. In the postoperative course, the child showed nearly normal growth and satisfactory psychosocial and motor development. However, 40 months postoperatively, we noticed a tendency of the orbitae to diverge (i.e., toward hypertelorism). CONCLUSIONS: The surgical management of complex craniofacial malformations such as diprosopus needs a precise morphologic analysis of the patient's deformity followed by a clear treatment plan. A staged reconstructive approach is carried out to coincide with facial growth patterns and brain and eye function. If the interorbital distance in our patient increases progressively, a second operation for reduction of the interorbital distance may be necessary.

Age- and tooth-related pulp cavity signal intensity changes in healthy teeth: a comparative magnetic resonance imaging analysis.

OBJECTIVE: To determine if it is possible to measure age-related pulp cavity signal intensity changes by using magnetic resonance imaging (MRI). STUDY DESIGN: Dental pulp cavity signal intensities were assessed in 92 test subjects on the basis of MRI signal intensity measurements at freely defined regions of interest by using T1 gradient echo sequences before and after contrast-agent administration. Relative signal intensity differences were calculated and provided the basis for age- and tooth-related comparisons. RESULTS: Significant signal intensity differences were noted between the oldest (born between 1930 and 1959) and the youngest (born after 1980) test subjects and the other groups (P < .05). In addition, the first molars showed significantly lower signal intensity differences than the second molars (P < .05). CONCLUSION: Magnetic resonance imaging can be used to determine pulp cavity signal-intensity changes with age.

Robust localization and lateralization of human language function: an optimized clinical functional magnetic resonance imaging protocol.

An optimized clinical functional magnetic resonance imaging (fMRI) protocol with a total scanning time of 8 min is presented that localizes Broca's and Wernicke's areas robustly and determines hemispheric dominance. Language function was visualized using two different sentence generation (SG) and word generation (WG) tasks. Block designed blood oxygenation level dependent (BOLD) fMRI was applied in 14 right-handed volunteers at 1.5 T during visual stimulation. BOLD-clusters were assessed individually for anatomical localization. Reference data are provided for the maximum correlation of the measured BOLD-signal time course to the applied reference function (r(max)), for the maximum relative signal change (dS%), cluster size and Euklidian coordinates of Broca and Wernicke activation and of the anatomical homologues in the right hemispheres. Statistical means and a lateralization index (LI) were calculated. Broca activation focussed on the inferior frontal gyrus, and Wernicke activation on the superior temporal, supramarginal or middle temporal gyri. Mean BOLD-signals for Broca ranged from 1.53% (SG) to 2.56% (WG), and for Wernicke from 1.47% (SG) to 1.80% (WG). LI indicated left language dominance. The data provided further evidence for the high anatomical variability of language areas, which underlined the relevance of an individual language localization and lateralization prior to brain surgery.

Local intra-arterial fibrinolysis of thromboemboli occurring during neuroendovascular procedures with recombinant tissue plasminogen activator.

BACKGROUND AND PURPOSE: There is a lack of systematic data regarding local intra-arterial fibrinolysis (LIF) of thromboemboli occurring during neuroendovascular procedures with the use of recombinant tissue plasminogen activator (rtPA). We report our technique for treating LIF of intracerebral thromboemboli occurring during neuroendovascular procedures. METHODS: Nine of 723 patients (1.2%) who underwent neuroendovascular procedures during the period from January 1997 to September 2002 suffered thromboembolic complications. These patients were treated by LIF with a maximum dose of 0.9 mg rtPA per kilogram body weight. Recanalization was categorized as successful (Thrombolysis in Myocardial Infarction [TIMI] grade 2 or 3) versus unsuccessful (TIMI grade 0 or 1), and clinical outcome was categorized as independent (Rankin Scale score 0 to 2) versus dependent or dead (Rankin Scale score 3 to 6). RESULTS: The minimum time between thrombus detection and beginning of LIF was 10 minutes, and the maximum time was 90 minutes. Successful recanalization was achieved in 4 of 9 patients (44%). All 9 patients suffered cerebral ischemic infarctions, and none of the patients sustained intracerebral hemorrhage. Two patients (22%) died from malignant brain infarctions. Four patients (44%) remained moderately disabled, and 3 patients (33%) were severely disabled 3 months after LIF. CONCLUSIONS: Although we used relatively high doses of rtPA, the recanalization rates and clinical outcome of LIF in our patients were not satisfactory. Strategies for the prevention of thromboemboli during neuroendovascular procedures must be improved, and novel fibrinolytic or thrombolytic techniques should be developed.