Glucose 6-phosphate dehydrogenase deficiency with kernicterus: progressive late recovery from profound deafness.
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.
Akhtar
S
S
Royal National Throat Nose and Ear Hospital, London, UK.
Drenovak
M
M
Bantock
H
H
Mackinnon
H
H
Graham
J
J
D001300:Audiometry, Evoked Response; D042843:Glucose 1-Dehydrogenase; D005948:Glucose Dehydrogenases / Q000172:deficiency*; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007647:Kernicterus / Q000150:complications* / Q000628:therapy; D008297:Male; D012075:Remission, Spontaneous
D005948:Glucose Dehydrogenases; D042843:Glucose 1-Dehydrogenase