ABSTRACT
Familial occurrence of spinal muscular atrophy(SMA) is not infrequent. Various modes of inheritance of the SMA have been reported and autosomal recessive inheritance appears the most frequent mode of transmission. A small number of observations indicate autosomal dominant inheritance with either complete or incomplete penetrance. To date, autosomal dominant SMA with complete penetrance in more than 4 generations has been reported very rarely. It is the Purpose of this report to decribe a family with familial SMA presenting as an autosomal dominant trait with occurrence in 4 subsequent generations. This may be the first report in Korea.
Subject(s)
Humans , Family Characteristics , Korea , Muscular Atrophy, Spinal , Penetrance , WillsABSTRACT
Presented a 39 year old man of cerebral malaria and pertinent literature were reviewed briefly. The patient was admitted because of fever and drowsy mental state. On admission, there were mild icteric sclerae and hepatomegaly. Brain C-T scan was normal. The cerebrospinal fluid study showed increased pressure (280 mmH20), and protein content (150 mg/dl) with mild pleocytosis. The EEG revealed diffuse delta waves throughout the head. At the 3rd hospital day, the patient was rapidly deteriorated to comatous state showing marked hyperbilirubinemia, thrombocytopenia and bleeding tendency and expired. Numerous plasmodium falciparum parasites were revealed in the peripheral blood smear.
Subject(s)
Adult , Humans , Brain , Cerebrospinal Fluid , Electroencephalography , Fever , Head , Hemorrhage , Hepatomegaly , Hyperbilirubinemia , Leukocytosis , Malaria, Cerebral , Parasites , Plasmodium falciparum , Sclera , ThrombocytopeniaABSTRACT
This is a case report of pernicious anemia with neurologic deficits. The patient is a 69 years old male with generalized tingling sense. On examination, slight pale conjunctiva and beefy red tongue are noted. Laboratory stud show megaloblastic anemia with low serum vitamin B12 level, positive Schilling test, gastric achlorhydria and mild gastric atrophy. Neurologic examination reveals cerebral, spinal and peripheral involovement and EEG and EMG study support those things. On parenteral vitamin B12, the hematologic and neurological abnormalities are improved dramatically.
Subject(s)
Aged , Humans , Male , Achlorhydria , Anemia, Megaloblastic , Anemia, Pernicious , Atrophy , Conjunctiva , Electroencephalography , Neurologic Examination , Neurologic Manifestations , Schilling Test , Tongue , Vitamin B 12ABSTRACT
No abstract available.