RESUMO
Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.
RESUMO
Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.
RESUMO
Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.
RESUMO
@#Various cancer types have been associated with cancer-related cerebral infarction. In this study, we describe the first case of cancer-related cerebral infarction in which the underlying disease was primary bone marrow lymphoma (PBML). A 79-year-old man presented with abruptly developed bilateral lower extremity weakness and confusion. Diffusion-weighted imaging on admission showed multiple cortical and subcortical embolic infarction lesions in multiple vascular territories. Diagnostic evaluations to determine the embolic source revealed no abnormalities. Laboratory testing demonstrated elevated D-dimer (2.59 μg/mL) but no other prothrombotic abnormalities. In suspicion of cancer-related stroke, we performed chest CT, abdomen CT, and FDG-PET to detect the hidden malignancy. Findings revealed no evidence of cancer; however, they did reveal signs of anemia (hemoglobin 9.0 g/dL). Bone marrow aspiration biopsy showed large atypical B cell involvement suggestive of high-grade B cell lymphoma. The patient was diagnosed with primary bone marrow diffuse large B-cell lymphoma initially presenting with ischemic stroke. Our case suggests that primary bone marrow cancer may be a candidate for the differential diagnosis of hidden malignancy in patients with suspected cancer-related stroke. Bone marrow biopsy may be essential for establishing an appropriate differential diagnosis in patients with abnormal hematologic findings.
