Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
نویسندگان
چکیده
Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive bilateral symmetrical calcification of the basal ganglia with cerebrospinal fluid pleocytosis.
منابع مشابه
Behçet's Disease Long Time after Sulfur Mustard Poisoning
Dear Editor, A 35-year-old man presented with severe headache and left sided hemiparesis since one day prior to admission. He reported frequent bouts of oral and genital aphthous ulcers, an attack of deep venous thrombosis of left lower extremity, one episode of right knee arthritis, and several attacks of headache, neck rigidity, and fever. He had been a victim of mustard-gas poisoning at the ...
متن کاملThe Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).
Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest, intracerebral calcification, and white matter disease in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid interferon-alpha (IFN-alpha). Diagnosis requires the presence of progressive encephalo...
متن کاملParainfectious encephalomyeloradiculitis associated with herpes simplex virus 1 DNA in cerebrospinal fluid.
We describe a patient with acute encephalomyeloradiculitis associated with herpes simplex virus 1 (HSV-1) DNA in the cerebrospinal fluid (CSF), and we also review 4 similar cases previously reported from Japan. A 59-year-old man presented with acute encephalitis and urinary retention. Initially, coma and CSF pleocytosis improved with acyclovir treatment, but brain stem encephalitis, transverse ...
متن کاملPseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.
OBJECTIVE To report the clinical findings of 10 patients diagnosed with pseudomigraine with lymphocytic pleocytosis and the results of mutational analysis of the CACNA1A gene in 8 of these patients. BACKGROUND Pseudomigraine with lymphocytic pleocytosis, also referred to as headache with neurologic deficits and cerebrospinal fluid lymphocytosis (HaNDL), is characterized by episodic transient ...
متن کاملEastern Equine Encephalitis in Children, Massachusetts and New Hampshire,USA, 1970–2010
We describe the clinical, laboratory, and radiographic characteristics of 15 cases of eastern equine encephalitis in children during 1970-2010. The most common clinical and laboratory features were fever, headache, seizures, peripheral leukocytosis, and cerebrospinal fluid neutrophilic pleocytosis. Radiographic lesions were found in the basal ganglia, thalami, and cerebral cortex. Clinical outc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Journal of medical genetics
دوره 23 2 شماره
صفحات -
تاریخ انتشار 1986