Diagnostic yield and accuracy of postmortem cytological sampling from the brain surface of animals with neurological abnormalities.

Clarification of central nervous system (CNS) disorders frequently requires pathological investigation via brain biopsy or postmortem examination. The use of cytology is usually restricted to diagnosis of mass lesions and septic meningitis. The value of brain cytology at postmortem examination has not been explored sufficiently. This study aimed to clarify the diagnostic value of meningeal imprint cytology at postmortem brain examination. Samples were taken from cerebrum and cerebellum and stained with the modified Wright stain and with haematoxylin-eosin. The slides were evaluated and findings were compared to brain histopathology with respect to resemblance, discrepancy and diagnostic validity. The study included 169 cases involving multiple animal species. Histopathology identified inflammatory disorders in 60/135 (44.4%) cases, neoplasia in 19/135 (14.1%) and non-infiltrative diseases in 56/135 (41.5%). Cytology revealed pathological changes in 79/135 (58.5%) of these cases. The histopathological diagnosis was reproduced in 57/135 (42.2%) cases, 43/57 (75.4%) of which were inflammatory. Non-diagnostic cases included 16/135 (11.9%) with sub-diagnostic cytological features and 3/135 (2.2%) with unclear phenomena. In 55/135 (40.7%) of brains with histological lesions, cytology proved inferior, providing negative results, including 40/55 (72.7%) cases with non-infiltrative diseases, 12/55 (21.8%) with inflammation and 3/55 (5.5%) with neoplasia. Conversely, 3/34 (8.8%) of controls showed cytological abnormalities. Cytological sampling from CNS adds to the sensitivity of neuropathological investigations, even if restricted to non-invasive surface imprints. The diagnostic accuracy exceeds 40%, with infiltrative diseases being five times more likely to be detected than non-infiltrative diseases.

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.

PURPOSE: Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. SUBJECTS AND METHODS: Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. RESULTS: In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. CONCLUSION: In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions.