Infantile refsum disease in four Amish sibs.
Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.
Bader
P I
PI
Department of Cytogenetics, Parkview Hospital, Fort Wayne, Indiana, USA. PBader2792@aol.com
Dougherty
S
S
Cangany
N
N
Raymond
G
G
Jackson
C E
CE
D000293:Adolescent; D000928:Antidepressive Agents / Q000627:therapeutic use; D002648:Child; D003241:Consanguinity; D005260:Female; D005473:Fluoxetine / Q000627:therapeutic use; D006801:Humans; D008140:Lorazepam / Q000627:therapeutic use; D008297:Male; D012035:Refsum Disease / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018967:Risperidone / Q000627:therapeutic use
D000928:Antidepressive Agents; D005473:Fluoxetine; D018967:Risperidone; D008140:Lorazepam