Immunohistochemical analysis of CDX2 expression in normal choroid plexus epithelium and choroid plexus tumors.

BACKGROUND: The Wnt and BMP signaling pathways are involved in the morphogenesis of both gastrointestinal and choroid plexus epithelium. In the intestine, Wnt signaling represses the expression of the tumor suppressor gene CDX2 via SOX9, a transcription factor, which is also expressed in the choroid plexus. Recently, an inverse correlation between CDX2 expression and tumor grade, tumor stage and lymph node metastasis in colorectal adenocarcinomas has been reported. Besides intestinal tissues, expression of CDX2 has also been reported in various other epithelial tissues and carcinomas. To date, no data exist on expression of CDX2 in normal and neoplastic choroid plexus epithelium. AIM: To investigate CDX2 expression in normal and neoplastic choroid plexus. MATERIALS AND METHODS: Paraffin-embedded samples from 60 normal choroid plexus, including 23 fetal tissue samples and from 65 choroid plexus tumors (47 choroid plexus papillomas WHO grade I, 16 atypical choroid plexus papillomas and 2 choroid plexus carcinomas WHO grade III) were examined by immunohistochemistry. Samples from normal choroid plexus were collected from 45 autopsy cases and from 15 neurosurgical specimens. RESULTS: Normal and neoplastic choroid plexus lacked CDX2 expression. CONCLUSION: In our series, immunohistochemistry shows no evidence for a role of CDX2 in development or differentiation of normal choroid plexus from the 9th gestational week until adulthood. Since choroid plexus tumors reliably lack CDX2 immunoreactivity, this marker may be helpful in distinguishing cerebral metastases from CDX2-positive adenocarcinomas and choroid plexus neoplasms.

Hereditary motor and sensory neuropathy with absence of large myelinated fibers due to absence of large neurons in dorsal root ganglia and anterior horns, clinically associated with deafness, mental retardation, and epilepsy (HMSN-ADM).

Hereditary motor and sensory neuropathy (HMSN) with autosomal recessive inheritance represents a genetically heterogeneous group of disorders with variable clinical, pathologic and electrophysiologic manifestations. A new variant of autosomal recessive HMSN, clinically defined by sensorimotor polyneuropathy associated with deafness and mental retardation, has recently been described. We report on the first autopsy case with this type of HMSN: a girl of non-consanguineous parents with a presumably autosomal recessive type of motor and sensory neuropathy clinically associated with deafness, mental retardation, and epilepsy. The autopsy showed complete absence of large myelinated fibers in peripheral motor and sensory nerves corresponding to a lack of large neurons in dorsal root ganglia and anterior horns of the spinal cord, moderate neurogenic muscle atrophy, and nearly complete absence of neurons in the dentate nucleus of the cerebellum. Molecular genetic analyses in our case revealed neither genetic alterations in the survival motor neuron gene nor in the PMP-22 gene.

[Diffuse fasciitis after Borrelia infection--a case report]. / Diffuse Fasziitis nach einer Borrelien-Infektion--ein kasuistischer Beitrag.

Diffuse fasciitis (DF) [diffuse fasciitis with eosinophilia-Shulman's syndrome] has occasionally been linked to a precedent infection with Borrelia burgdorferi. Here, we report on another case of DF in a 25 year old male, in whom Borrelia burgdorferi infection as possible inciting agent could be identified based on the patient's history and laboratory data. Efforts to microscopically demonstrate spirochetes or to amplify Borrelia-DNA by nested PCR in lesional tissue failed after antibiotic treatment had already been initiated. Although only a few cases of Borrelia associated diffuse fasciitis have been reported in the literature, the link between typical signs and symptoms as well as laboratory findings of Borrelia infection and the onset of diffuse fasciitis, starting at the primary site of EM, provide indirect evidence for a causative role of Borrelia burgdorferi as a potential infectious agent for DF.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized clinically by recurrent cerebral infarcts, subcortical dementia and pseudobulbar palsy, and morphologically by a granular degeneration of cerebral and, to a lesser degree, extracerebral blood vessels. We present morphological findings in a further German family affected by CADASIL. The index case showed the typical periodic acid-Schiff-positive granular degeneration of vascular smooth muscle cells (VSMC) in cerebral vessels, which did not react with antibodies against various immunoglobulins or complement factors. Ultrastructurally, granular osmiophilic material (GOM) covered the VSMC in different cerebral regions as well as in extracerebral organs (muscle, nerve, skin, small and large intestine, liver, kidney and heart). Skin biopsy samples from other family members of the last two generations also revealed GOM irrespective of the clinical symptomatology (CADASIL, migraine only or asymptomatic). Patients in the third generation had higher amounts of GOM in skin vessels than did asymptomatic or migraine patients in the fourth generation. We conclude that skin biopsy is a useful and less invasive screening method for the differential diagnosis of CADASIL.