Lissencephaly in Shih Tzu dogs.

BACKGROUND: Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine. Here, we characterize the first cases of lissencephaly in four Shih Tzu dogs, including clinical presentations and findings of magnetic resonance imaging of lissencephaly and several concomitant brain malformations. CASE PRESENTATION: Early-onset acute signs of forebrain abnormalities were observed in all dogs, which were mainly cluster seizures and behavioral alterations. Based on neurological examination, the findings were consistent with symmetrical and bilateral forebrain lesions. Metabolic disorders and inflammatory diseases were excluded. Magnetic resonance imaging for three dogs showed diffuse neocortical agyria and thickened gray matter while one dog had mixed agyria and pachygyria. Other features, such as internal hydrocephalus, supracollicular fluid accumulation, and corpus callosum hypoplasia, were detected concomitantly. Antiepileptic drugs effectively controlled cluster seizures, however, sporadic isolated seizures and signs of forebrain abnormalities, such as behavioral alterations, central blindness, and strabismus persisted. CONCLUSIONS: Lissencephaly should be considered an important differential diagnosis in Shih Tzu dogs presenting with early-onset signs of forebrain abnormalities, including cluster seizures and behavioral alterations. Magnetic resonance imaging was appropriate for ante-mortem diagnosis of lissencephaly and associated cerebral anomalies.

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.

Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified.

Lissencephaly-pachygyria and cerebellar hypoplasia in a calf / Lisencefalia-paquigiria e hipoplasia cerebelar em um bovino

A case of lissencephaly-pachygyria and cerebellar hypoplasia diagnosed in a Charolais x Tabapuã calf is described. The calf presented since birth, clinical signs characterized by apathy, prolonged recumbency, tremors of the head and neck, ataxia, hypermetria, difficulty walking, blindness and swelling of the joints of the four limbs. Due to the unfavorable prognosis, the animal was euthanized and necropsied at 34 days of age. At necropsy, a rudimentary development of the brain folds (gyri) and grooves (sulci) was observed, and the cerebellum was hypoplastic. The cut surface of the brain exhibited thickening of the gray matter (pachygyria) in the frontal, parietal, temporal and occipital cortices and narrowing of the white matter. In the organs of the thoracic and abdominal cavities, no significant lesions were observed. Histologically, cerebral cortex was thick and exhibited neuronal disorganization of the gray matter. The cerebellum had a thin molecular layer, and neuronal disorganization with ectopia of the Purkinje neurons in the region of the granular and molecular layers. There were no bacterial growths in cultures of joint swabs. This was the only case on the property, which suggests that this malformation, which has not previously been described in cattle, was a sporadic case, and it was not possible to determine its cause. Neurological lesions and clinical sings presented here should be considered in the differential diagnosis of congenital diseases of the central nervous systems of cattle.(AU)

Descreve-se um caso de lisencefalia-paquigiria e hipoplasia cerebelar diagnosticado em um bovino, macho, cruza Charolês x Tabapuã que apresentava, desde o nascimento, sinais clínicos caracterizados por apatia, decúbito prolongado, tremores da cabeça e do pescoço, ataxia, hipermetria, dificuldade na marcha, cegueira e aumento de volume nas articulações dos quatro membros. Devido ao prognóstico desfavorável, o bovino foi eutanasiado e necropsiado aos 34 dias de idade. Na abertura da caixa craniana, observou-se formação rudimentar dos giros do telencéfalo e cerebelo hipoplásico. Ao corte o encéfalo, apresentava espessamento da substância cinzenta (paquigiria) do córtex frontal, parietal, temporal e occipital e estreitamento da substância branca. Nos órgãos das cavidades torácica e abdominal, não foram observadas lesões significativas. Histologicamente, no córtex cerebral havia desorganização neuronal da substância cinzenta que estava espessa. No cerebelo, havia diminuição da camada molecular e desorganização neuronal com ectopia dos neurônios de Purkinje na região das camadas granular e molecular. Não houve crescimento bacteriano das culturas de suabes das articulações. O fato de ser o único caso na propriedade sugere que a malformação, sem descrição anterior em bovinos, trata-se de caso esporádico, não sendo determinada sua causa. As alterações neurológicas aqui observadas devem ser levadas em consideração no diagnóstico diferencial de enfermidades congênitas do sistema nervoso central de bovinos.(AU)

Lissencephaly-pachygyria and cerebellar hypoplasia in a calf / Lisencefalia-paquigiria e hipoplasia cerebelar em um bovino

A case of lissencephaly-pachygyria and cerebellar hypoplasia diagnosed in a Charolais x Tabapuã calf is described. The calf presented since birth, clinical signs characterized by apathy, prolonged recumbency, tremors of the head and neck, ataxia, hypermetria, difficulty walking, blindness and swelling of the joints of the four limbs. Due to the unfavorable prognosis, the animal was euthanized and necropsied at 34 days of age. At necropsy, a rudimentary development of the brain folds (gyri) and grooves (sulci) was observed, and the cerebellum was hypoplastic. The cut surface of the brain exhibited thickening of the gray matter (pachygyria) in the frontal, parietal, temporal and occipital cortices and narrowing of the white matter. In the organs of the thoracic and abdominal cavities, no significant lesions were observed. Histologically, cerebral cortex was thick and exhibited neuronal disorganization of the gray matter. The cerebellum had a thin molecular layer, and neuronal disorganization with ectopia of the Purkinje neurons in the region of the granular and molecular layers. There were no bacterial growths in cultures of joint swabs. This was the only case on the property, which suggests that this malformation, which has not previously been described in cattle, was a sporadic case, and it was not possible to determine its cause. Neurological lesions and clinical sings presented here should be considered in the differential diagnosis of congenital diseases of the central nervous systems of cattle.

Descreve-se um caso de lisencefalia-paquigiria e hipoplasia cerebelar diagnosticado em um bovino, macho, cruza Charolês x Tabapuã que apresentava, desde o nascimento, sinais clínicos caracterizados por apatia, decúbito prolongado, tremores da cabeça e do pescoço, ataxia, hipermetria, dificuldade na marcha, cegueira e aumento de volume nas articulações dos quatro membros. Devido ao prognóstico desfavorável, o bovino foi eutanasiado e necropsiado aos 34 dias de idade. Na abertura da caixa craniana, observou-se formação rudimentar dos giros do telencéfalo e cerebelo hipoplásico. Ao corte o encéfalo, apresentava espessamento da substância cinzenta (paquigiria) do córtex frontal, parietal, temporal e occipital e estreitamento da substância branca. Nos órgãos das cavidades torácica e abdominal, não foram observadas lesões significativas. Histologicamente, no córtex cerebral havia desorganização neuronal da substância cinzenta que estava espessa. No cerebelo, havia diminuição da camada molecular e desorganização neuronal com ectopia dos neurônios de Purkinje na região das camadas granular e molecular. Não houve crescimento bacteriano das culturas de suabes das articulações. O fato de ser o único caso na propriedade sugere que a malformação, sem descrição anterior em bovinos, trata-se de caso esporádico, não sendo determinada sua causa. As alterações neurológicas aqui observadas devem ser levadas em consideração no diagnóstico diferencial de enfermidades congênitas do sistema nervoso central de bovinos.

Trastornos de la migración neuronal: un caso de lisencefalia / Neuronal migration disorders: a lissencephaly case

Las malformaciones del desarrollo cortical originan un grupo de patologías, que cursan con diversas manifestaciones las cuales marcan un grado de minusvalía significativo en quienes las padecen. La Lisencefalia es una de las alteraciones de la migración neuronal caracterizada por una corteza cerebral de superficie lisa o con pocas circunvoluciones. Este trastorno está frecuentemente asociado a epilepsias de difícil manejo. Se presenta el caso de un paciente masculino de 18 meses de edad con diagnóstico de Lisencefalia quien cursa con convulsiones tónicas generalizadas desde los 8 meses de edad. Se le realizó TAC de cráneo simple y resonancia magnética de cerebro para confirmar el diagnóstico y se dio manejo farmacológico a las convulsiones.

Malformations of cortical development originate a group of pathologies that involve diverse manifestations that mark a significant degree of disability in those who suffer from. The Lissencephaly is one of alterations in neuronal migration characterized by a smooth surface or with few convolutions in the cerebral cortex. This disorder is often associated with difficult management Epilepsies. We report the case of a male patient from 18 months of age with a diagnosis of Lissencephaly, who presents generalized tonic seizures from 8 months of age. Was performed a simple skull CT and brain magnetic resonance to confirm the diagnosis and the pharmacological management was given to seizures.