RESUMO
The case of a 5-month-old male Weimaraner dog with severe osteodystrophia fibrosa (rubber jaw) and renal insufficiency is presented. Kidneys were smaller than normal with a granular cortical surface and a histopathological end-stage diagnosis consistent with juvenile nephropathy. Analysis of four described genetic mutations associated with Alport syndrome in dogs revealed no evidence for familiar inheritance in this dog.
Assuntos
Doenças do Cão/patologia , Doenças Maxilomandibulares/veterinária , Insuficiência Renal/veterinária , Animais , Doenças do Cão/diagnóstico , Cães , Doenças Maxilomandibulares/complicações , Doenças Maxilomandibulares/diagnóstico , Doenças Maxilomandibulares/patologia , Insuficiência Renal/complicações , Insuficiência Renal/diagnóstico , Insuficiência Renal/patologiaRESUMO
Aprosencephaly is a rare condition in veterinary and human medicine characterized by the complete absence of telencephalon and diencephalon. Some cases are accompanied by a facial dysmorphism designated as otocephaly. A stillborn lamb had splanchnocranial anomalies that were classified by computed tomography, magnetic resonance imaging, and pathologic examination as aprosencephaly and otocephaly. The brain included parts of the cerebellum and brainstem but no telencephalon, diencephalon, or mesencephalon. The cerebellum had a structurally normal cortex with expression of neuronal nuclear antigen in the inner and doublecortin in the outer granular cell layers, as well as an irregularly situated nucleus dentatus. Aprosencephaly with otocephaly has been described in mice with heterozygous mutations in the Otx2 gene; however, no causative polymorphisms were detected in the Otx2 gene region of this lamb.
