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Glucose 6-phosphate dehydrogenase deficiency with kernicterus: progressive late recovery from profound deafness
S Akhtar1, M Drenovak, H Bantock
1Royal National Throat Nose and Ear Hospital, London, UK.
Insights
Glucose 6-Phosphate Dehydrogenase (G6-PD) deficiency in infants can cause severe jaundice. This case report highlights a rare instance of significant neurological recovery from Kernicterus in a G6-PD deficient infant.
Area of Science:
- Neonatology
- Pediatric Neurology
- Hematology
Background:
- Glucose 6-Phosphate Dehydrogenase (G6-PD) deficiency is a common inherited condition.
- Severe unconjugated hyperbilirubinemia in G6-PD deficiency can lead to kernicterus.
Observation:
- A near-term infant with G6-PD deficiency presented with extremely high bilirubin levels (703 µmol/L) but maintained stable hemoglobin.
- At 4 months, the infant showed signs of kernicterus, including profound sensorineural deafness and encephalopathy.
Findings:
- Remarkable neurological and auditory recovery was observed by 15 months of age.
- Motor and cerebral signs regressed towards normal, with hearing returning to normal levels.
- Communication skills showed a 4-6 month delay but were improving.
Implications:
- This case suggests potential for significant neurodevelopmental recovery even after severe kernicterus in G6-PD deficient infants.
- Highlights the importance of monitoring neurodevelopmental outcomes in infants with G6-PD deficiency and hyperbilirubinemia.
- Suggests that early intervention and supportive care may play a role in recovery.
Abstract:
In this case report a near-term infant with Glucose 6-Phosphate Dehydrogenase (G6-PD) deficiency had an unconjugated bilirubin level of 703 on the 11th day of life but maintained his haemoglobin levels above 11 gm/dl. At 4 months of age he demonstrated the clinical picture of Kernicterus: profound sensorineural deafness and evidence of encephalopathy. However, by 15 months of age his abnormal cerebral and motor signs had regressed to a near-normal level in parallel with a gradual improvement in hearing, which also reached normal levels, first in the right ear, then in the left. At this age residual mental retardation has not been excluded but his communication skills, though delayed by 4-6 months, were moving towards the level when they would be appropriate for his age.