No abstract

No abstract

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transient ischaemic events, psychiatric disturbances, dementia, and migraines. We report a case of a Thai man with a severe CADASIL phenotype who presented with recurrent seizures and acute ischaemic stroke and classic vascular risk factors. Case presentation A 50-year-old man with a history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presented with recurrent generalized seizures and acute right-sided weakness. An MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesions. Molecular genetic testing identified a homozygous pathologic variant, c.1672C > T (p. Arg558Cys), in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of tracheobronchitis with secretion obstruction. Conclusion This case raises awareness of an uncommon cause of acute ischaemic stroke in patients with classic vascular risk factors and emphasizes the need for a complete evaluation in cases with unexpected clinical presentation or unexpected diagnostic study results.

The rare cheiro-oral-pedal syndrome (COPS) is characterized by sensory disturbances around the corner of the mouth, and in the hand and foot of the same side. The causative lesion is located in the thalamocortical projections, thalamus or brainstem and is usually due to ischemic or hemorrhagic stroke. We report a case of a patient with brain stem cavernous malformations presented as pure COPS with additional sensory disturbance in the thorax. We report this case to raise awareness of these very rare syndromes and demonstrate that mildly presenting symptoms can be caused by an underlying devastating condition.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transient ischaemic events, psychiatric disturbances, dementia, and migraines. We report a case of a Thai man with a severe CADASIL phenotype who presented with recurrent seizures and acute ischaemic stroke and classic vascular risk factors. Case presentation: A 50-year-old man with a history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presented with recurrent generalized seizures and acute right-sided weakness. An MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesions. Molecular genetic testing identified a homozygous pathologic variant, c.1672C>T (p. Arg558Cys), in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of tracheobronchitis with secretion obstruction. Conclusion: This case raises awareness of an uncommon cause of acute ischaemic stroke in patients with classic vascular risk factors and emphasizes the need for a complete evaluation in cases with unexpected clinical presentation or unexpected diagnostic study results.

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with NOTCH3 gene. Clinical manifestations include strokes, transient ischemic events, psychiatric disturbances, dementia, as well as migraines. We report a case of a Thai man with severe phenotype of CADASIL presenting with recurrent seizures and acute ischemic stroke in whom classic vascular risk factors are also present. Case presentation A 50 year-old-man who has had history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presenting with recurrent generalized seizures and acute right-sided weakness. The MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesion. Molecular genetic testing identified homozygous pathologic variants, c.1672C>T (p. Arg558Cys) in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of fever of unknown origin with secretion obstruction. Conclusion This case raises the awareness of an uncommon cause of acute ischemic stroke in patients with classic vascular risk factors and highlights the complete evaluation for an unexpected clinical presentation or unexpected diagnostic study results.

No abstract

No abstract