Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085632 (apathy)
 4,089 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cyanocobalamin (vitamin B12) deficiency can cause polyneuropathy, myelopathy, blindness, confusion, psychosis and dementia. Nonetheless, its deficiency as the sole cause of dementia is infrequent. We report a 59 years old man with a 6 months history of progressive loss of memory, disorientation, apathy, paranoid delusions, gait difficulties with falls, and urinary incontinence. He had suffered a similar episode 3 years before, with a complete remission. On examination there was frontal type dementia with Korsakoff syndrome, a decrease in propioception and ataxic gait. Cerebrospinal fluid examination showed a protein of 0.42 g/L. Brain computed tomography showed sequelae of a frontal left trauma. Brain single photon computed tomography (SPECT) was normal. Complete blood count showed a macrocytic anemia with a hematocrit 29% and a mean corpuscular volume of 117 micron3. Plasma vitamin B12 levels were undetectable, erythrocyte folate levels were 3.9 ng/ml and plasma folate was normal. The myelogram showed megaloblastosis and the gastric biopsy showed atrophic gastritis. Treatment with parenteral B12 vitamin and folic acid reverted the symptoms, with normalization of the neuropsychological tests and reintegration to work.
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PMID:[Dementia caused by vitamin B12 deficiency. Clinical case]. 1455 47

Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.
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PMID:West syndrome due to vitamin B12 deficiency. 2688 97