Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.
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PMID:Neurological symptoms of vitamin B12 deficiency: analysis of pediatric patients. 3181 26

Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mothers are particularly at risk. We report the case of a 7-month-old boy with West syndrome born to a mother with subclinical vitamin B12 deficiency due to autoantibodies. Electroencephalography revealed the characteristic hypsarrhythmia pattern, whereas cranial magnetic resonance imaging revealed cerebral atrophy and hypomyelination. Biochemical analysis revealed elevated urinary methylmalonic acid and homocysteine and reduced plasma methionine. Serum vitamin B12 levels were extremely low in both the child and his mother. The mother tested positive for both anti-intrinsic factor and anti-parietal cell antibodies. Low-dose adrenocorticotropic hormone was effective for seizure control. Contrary to previous reports, age-appropriate neurodevelopment was not achieved despite rapid normalization of metabolic profile with vitamin B12 supplementation. Further investigations failed to detect any causative mutations in the genes associated with developmental and epileptic encephalopathy as well as metabolic and other identifiable disorders known to cause West syndrome. To the best of our knowledge, this is the first reported case in which maternal anti-intrinsic factor antibody was considered to be the reason for infantile vitamin B12 deficiency with West syndrome. Differential diagnosis of West syndrome should include vitamin B12 deficiency due to its treatable nature, and early diagnosis is essential to prevent permanent neurological consequences.
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PMID:West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother. 3195 46


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