1. Thanatophoric dysplasia: neuropathological findings of two cases
- Author
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Luciano Monte Serrat Prevedello, Luiz Fernando Bleggi Torres, Maria José Serapião, Lucia de Noronha, and Everton M. Maggio
- Subjects
thanatophoric dysplasia ,Thanatophoric dysplasia ,Appendicular skeleton ,Neurosciences. Biological psychiatry. Neuropsychiatry ,lcsh:RC321-571 ,Temporal lobe ,Pulmonary hypoplasia ,chondrodysplasia ,Polymicrogyria ,Medicine ,displasia tanatofórica ,lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry ,malformações ,business.industry ,Cloverleaf skull ,Macrocephaly ,Meninges ,Anatomy ,medicine.disease ,craniosynostosis ,medicine.anatomical_structure ,Neurology ,craniosinostose ,malformations ,Neurology (clinical) ,medicine.symptom ,business ,RC321-571 ,condroplasia - Abstract
O relato tem como objetivo apresentar dois casos de displasia tanatofórica (DT), um caso do tipo I e outro do tipo II, com especial atenção ao sistema nervoso central. No caso compatível com DT tipo I foram observados macrocefalia, tórax estreito, hipoplasia pulmonar acentuada, abdome protuberante. Exames radiológicos revelaram platispondilia e ossos curtos encurvados com achatamento e fusão metafisária. No caso compatível com DT tipo II foram observados megaencefalia, fenda palatina, membros curtos e crânio em "folha de trevo". Os achados radiológicos ósseos foram platispondilia, alargamento dos espaços intervertebrais, ossos do esqueleto apendicular mais retilíneos que o primeiro caso e macrocefalia. Ao exame microscópico de ambos os casos foram encontrados polimicrogiria, principalmente temporal; agenesia hipocampal e heterotopia neuroglial no espaço subaracnoideo. As alterações eram mais intensas no segundo caso. We report two cases of thanatophoric dysplasia (TD) with detailed neuropathologic evaluation. One case was representative of TD type I and the other TD type II. The case with TD type I showed macrocephaly, narrow thoracic cage, pulmonary hypoplasia and bowed limbs. Radiological study showed flat vertebral bodies, short curved appendicular skeleton and flaring of metaphyses. The other case (TD type 2) showed macrocephaly, cleft palate, short limbs and cloverleaf skull. Radiological findings were generalized platyspondy with excessive intervertebral disc space heights and a large head. Microscopic examination of both cases revealed temporal lobe polymicrogyria, abnormalities of the hippocampus and heterotopic neuroglial tissue within the meninges. There were no noticeable differences in CNS abnormalities between TD type I and II.
- Published
- 2002