Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 2.5-year-old boy with severe mental retardation, choreoathetosis, dystonia, muscle rigidity, opisthotonus and severe hearing impairment. He had history of severe hyperbilirubinaemia immediately after birth presumably due to ABO incompatibility. The history and the clinical picture suggested the diagnosis of Kernicterus. The MR imaging examination upon admission revealed bilateral signal intensity increase in the globus pallidum on T2-weighted sequences. Additionally, our patient showed signal intensity changes within the subthalamic nuclei, which is known to be another characteristic area of bilirubin deposition in Kernicterus.
 ...
PMID:MR findings in a patient with Kernicterus. 1060 75

Bilateral basal ganglia lesions are a common non-specific finding seen in many diseases. One of the differential diagnoses for it, in a child, is kernicterus occurring due to hyperbilirubinemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common cause of severe hyperbilirubinemia. A 1-year old child presented to the hospital with history of generalized dystonia in the previous 3 days. MRI showed evidence of symmetrical lesions in bilateral globus pallidus, which were hyperintense on T2/FLAIR and isointense on T1. Patient's blood test revealed G6PD deficiency. Hence, a diagnosis of G6PD deficiency leading to kernicterus was made. In a child, the diseases that may affect the basal ganglia symmetrically and bilaterally include kernicterus, hypoxia, carbon monoxide poisoning, hypoglycemia, inherited metabolic and dysmyelinating disorders like Leigh disorder, Canavan and Krabbe, Neurofibromatosis, Herpes encephalitis, congenital HIV infection, manganese poisoning and extrapontine myelinolysis. Important causes of kernicterus are Rh incompatibility, ABO incompatibility, sepsis, hemolytic anaemia and G6PD deficiency. G6PD deficiency leading to kernicterus should be considered a differential diagnosis of bilateral basal ganglia lesions in children. Proper elicitation of history with appropriate blood biochemical tests will help in arriving at a proper diagnosis.
 ...
PMID:B/L Basal Ganglia Lesions in a Child Leading to a Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency. 2988 84