Congenital skull fracture as a presentation of Menkes disease

نویسندگان
چکیده

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis

The severity of seizures presenting to the emergency department ranges from benign to life threatening. There are also a wide number of possible etiologies. Computed tomography (CT) emergency imaging may be required at presentation to elucidate a possible cause and assess signs of intracranial trauma. This case describes a serious seizure episode in a young man while on holiday. A CT brain show...

متن کامل

Menkes disease as a differential diagnosis of child abuse.

Division of Child Neurology / Department of Neurology and Neurosurgery / Federal University of São Paulo, São Paulo SP, Brazil (UNIFESP-EPM): Resident, Division of Child Neurology, UNIFESP-EPM; Resident, Department of Radiology, Heliopolis Hospital, Sao Paulo SP, Brazil; Post-Graduate Researcher, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM; Associated Phy...

متن کامل

Neonatal erythroderma as a first manifestation of Menkes disease.

Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease wit...

متن کامل

Menkes kinky hair disease (Menkes syndrome). A case report.

Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...

متن کامل

skull metastasis as the first presentation of hepatocellular carcinoma

skull metastasis from hepatocellular carcinoma, specially as the first presentation is very rare. we report a case with a history of head trauma in bam earthquake and craniotomy due to lytic tumor of the skull, presented with upper gastrointestinal symptoms which hepatocellular carcinoma with skull metastasis was revealed .the patient was infected with hepatitis b virus without cirrhosis.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Developmental Medicine & Child Neurology

سال: 2007

ISSN: 0012-1622,1469-8749

DOI: 10.1111/j.1469-8749.2000.tb00103.x