Evidence of recurrent atypical meningioma with rhabdoid transformation and expression of pyrogenic cytokines in a child presenting with a marked acute-phase response: case report and review of the literature.

Children presenting with acute systemic illnesses that lack specific clinical or serological defining features may be diagnosed as having a chronic infection, an atypical systemic vasculitis or a connective tissue disease, but often turn out to have occult neoplasias. Cytokines have been implicated in causing many of the systemic effects in such cases. In this study, we describe the case of a 9-year-old boy presenting at an interval of 18 months with a marked acute-phase response due to a recurrent atypical meningioma with rhabdoid transformation of the tentorium cerebelli. Resection of the recurrent tumor was curative. We evaluated in detail the local and systemic production of cytokines released by the primary and the recurrent tumor. Blood and CSF samples were taken pre-, intra-, and postoperatively, and the production of IL-6, IL-1beta, and TNF-alpha was measured by enzyme-linked immunosorbent assays (ELISA). The level of IL-6 in CSF was about 150-fold increased before tumor resection, normalizing postoperatively. On the contrary, the levels of IL-1beta and TNF-alpha in CSF and of IL-6, IL-1beta, and TNF-alpha in serum were pre-, intra-, and postoperatively within normal limits. Cytokine production was also evaluated immunohistochemically, and confirmed strong IL-6 and TNF-alpha expression in the primary and the recurrent tumor, while expression of IL-1beta was lacking. The scattered MHC class II- and leukocyte common antigen (LCA)-expressing inflammatory cells, which were infiltrating exclusively the tumoral stroma, had no detectable cytokine immunoreactivity. We conclude that chronic IL-6 and TNF-alpha production by the tumor cells in this patient was responsible for the severe systemic illness with which he presented.

Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.

Core binding factor A1 (CBFA1/RUNX2) is a runt-like transcription factor essential for osteoblast differentiation. Haplotype insufficiency causes cleidocranial dysplasia (CCD), a syndrome featuring supernumerary tooth buds, delayed tooth eruption, patent fontanels, Wormian bones, short stature, dysplasia of the clavicles, growth retardation and hypoplasia of the distal phalanges. We identified novel CBFAI/RUNX2 mutations after PCR and direct sequencing of patient leukocyte DNA. In family 1 mother and son are affected by CCD. Both carry the missense mutation R190W (CGG > TGG). This nucleotide change introduced a BsmI restriction site, which was used to independently confirm the mutation. It was absent in healthy members of the family. Family 2, in which father and daughter are affected by CCD, shows a deletion of nucleotide C821. This deletion causes a frameshift mutation with premature stop after the insertion of 18 aberrant amino acids. Healthy family members did not have this mutation. The clavicular dysplasia was more pronounced with the R19OW mutation, while the bone density was markedly reduced in individuals with either mutation, suggesting a previously underemphasized increased risk for osteoporosis in CCD.

[Preserving and improving the profile in primary and secondary orbital reconstruction]. / Profilerhalt und -verbesserung bei primärer und sekundärer Orbitarekonstruktion.

Computed tomographies in 15 patients following reconstruction of multiple-wall defects of the orbit following trauma and tumor demonstrate a correlation between moderate overcorrection of the orbital bony frame and a good aesthetic profile. Reconstruction of the deep orbital cone, the transition level between the orbital floor and medial orbital wall, as well as the convex shape of the medial orbital wall, are of great importance for good results.

[In spinal symptoms remember toxoplasmosis]. / Bei spinaler Symptomatik an Toxoplasmose denken.

A 4 weeks old girl presented a macrocephalus, elevated intracranial pressure and paralysis of both legs. The CT scan showed a hydrocephalus internus with stenosis of the aqueduct and periventricular calcifications. The cranial and spinal MRT scan revealed numerous lesions of the cerebral parenchyma and the spinal cord, which were detected after injection of Gadolinium Dimethylentriaminaceticacid (Gd DTPA). The serological examination confirmed the diagnosis of congenital toxoplasmosis.

Traumatic brain swelling and operative decompression: a prospective investigation.

Since 1978, decompressive craniotomy was performed according to a standardized protocol. Exclusion criteria were age greater than or equal to 40 years, deleterious primary brain damage, operable space occupying lesions, larger infarctions in CT scan or irreversible brain stem incarceration/ischaemic damage as shown by bulbar syndrome, loss in BAEP or oscillating flow in TCD. Indication was given by progressive intracranial hypertension not controllable by conservative methods, if ICP decompensation was correlated with clinical (GCS, extension spasms, mydriasis) and electrophysiological (EEG, SEP, CCT) deteriorations. 18 patients were decompressed by unilateral. 19 by bilateral craniotomy with large fronto-parieto-temporal bone flap and a dura enlargement by use of temporal muscle/fascia. 37 patients at an age of 18 +/- 7 (4-34) years were operated 5 h-10 d after trauma. Recovery was surprisingly good: only 5 died, 2 due to an ARDS; 3 remained vegetative, all others achieved full social rehabilitation or remained moderately disabled. The best predictor of a favourable outcome was an initial posttraumatic GCS greater than or equal to 7. These in younger patients with delayed posttraumatic decompensation before irreversible ischaemic damage occurs.