Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute encephalopathy from childhood lead poisoning is fortunately rare. However, in pediatric patients with developmental disabilities and pica, there is a risk of lead exposure at a dose commensurate with encephalopathy, coupled with a risk of delayed diagnosis because of difficulty in distinguishing between baseline and altered behavior. We report here a 4-year old autistic boy who presented to the pediatrician's office with gastrointestinal symptoms and behavioral changes and was at first thought to have a viral syndrome. He returned 2 days later with a worsening illness; increasing pallor, vomiting, abdominal colic, and changes in consciousness were recognized in the emergency department as lead-induced anemia and encephalopathy, associated with a positive abdominal film for paint chips and a blood lead level equal to 216 microg/dL (10.43 micromol/L) (reference, <10 microg/dL or 0.483 micromol/L). As this case illustrates, prompt recognition is dependent on the skills and suspicions of an astute clinician, especially in the busy emergency department.
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PMID:Encephalopathy from lead poisoning masquerading as a flu-like syndrome in an autistic child. 2045 92

Homocysteine remethylation disorders are rare inherited disorders caused by a deficient activity of the enzymes involved in the remethylation of homocysteine to methionine. The adolescent/adult-onset remethylation disorders are rarely reported. We analyzed the clinical and genetic characteristics of seven cases with adolescent/adult remethylation disorders, including 5 cases of the cobalamin C disease (cblC) and 2 cases of the methylenetetrahydrofolate reductase deficiency. The average onset age was 21.1 (range 14 to 40) years. All patients complained of gait disturbances. Other common symptoms included psychiatric symptoms (5/7) and cognitive decline (4/7). Acute encephalopathy, dysarthria, anorexia, vomiting, ketoacidosis, anemia, cataract, and hand tremor were also observed. The mean total homocysteine in serum when the patients were diagnosed was 94.6 (range 53.1-154.5) mol/L. Electrophysiological studies revealed neuropathy in the lower limbs (6/7). The brain MRI showed reversible altered signal from the dorsal portions of the cerebellar hemispheres (1/7), periventricular hyperintensity (2/7), and delayed/impaired myelination (2/7). The sural nerve biopsy performed in one case showed a modest loss of myelinated fibers. Five patients showed heterozygous mutations of the MMACHC gene, including c.482G>A (5/5), c.609G>A (2/5), and c.658-660delAAG (3/5). Two patients showed heterozygous mutations of the MTHFR gene, including c.698C>A (2/2), c.698C>G (1/2), and c.236+1G>A (1/2). The patients responded well to the treatments with significant improvements. Adolescent/adult-onset remethylation disorders are easily misdiagnosed. We recommend testing the serum homocysteine concentrations in young/adult patients with unexplained neuro-psychotic symptoms. Furthermore, individuals with significantly elevated serum homocysteine concentrations should be further tested by organic acid screening and genetic analysis.
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PMID:Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases. 3300 Mar 30