MRI diagnosis of infantile Alexander disease in a 14 month old African boy.
نویسندگان
چکیده
Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, in combination with positive genetic blood analysis, confirm the diagnosis.
منابع مشابه
Psychiatric onset Alexander disease: an important challenge in neuropsychiatric diagnosis
Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...
متن کاملگزارش یک مورد بیماری کاناوان در یک پسر بچه 5/2 ساله
Canavan disease is an autosomal recessive leukodystrophy due to accumulation of N-acetyl aspartic acid (NAA) in brain, cerebrospinal fluid (CSF), and urine characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, sleep disturbance and macrocephaly. Brain magnetic resonance imaging (MRI) shows white-matter changes. The best method for diagnosis is determined...
متن کاملA 6-Month-Old Girl with Infantile Hemangioma of Left Lower Limb, a Case Report
Introduction: Hemangiomas are the most common tumors of infancy and infantile hemangiomas are the most common vascular tumors. The etiology of this tumor is unknown. Hemangiomas commonly occur in the skin followed by the deep tissues (intramuscular) and rarely within bones. Case Presentation: Hereby, the case of a 6-month-old girl whose whole left lower limb f...
متن کاملA Case of Infantile Alexander Disease Accompanied by Infantile Spasms Diagnosed by DNA Analysis
Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually ...
متن کاملIs a negative cranial CT-scan adequate to support a diagnosis of pseudotumor cerebri
In a patient with features indicating the presence of pseudotumor cerebri, a negative cranial CT-scan is not adequate to rule out less benign pathology and an MRI of brain should be performed. In this study, a 10-year old boy with daily headaches for one month and diplopia for one week was found to have a partial abducens palsy and bilateral papilledema; otherwise, his examination was normal. A...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of radiology case reports
دوره 10 10 شماره
صفحات -
تاریخ انتشار 2016