Marble brain disease in two Saudi Arabian siblings.
Marble brain disease, also known as Guibaud-Vainsel syndrome, is a syndrome consisting primarily of renal tubular acidosis, cerebral calcification and osteopetrosis. The majority of reports originate from the Middle East. It is an autosomal recessive condition owing to carbonic anhydrase type II deficiency in renal and brain cells with a variant form of osteopetrosis. We report two siblings with this condition from Saudi Arabia. Both cases improved in both somatic growth and mental development after commencing treatment for renal tubular acidosis in the form of alkaline therapy and potassium supplementation.
Muzalef
Abdullah
A
Department of Pediatrics, Asir Central Hospital and College of Medicine, King Khalid University, Abha, Saudi Arabia.
Alshehri
Mohammed
M
Al-Abidi
Abdulaziz
A
Al-Trabolsi
Hassan A
HA
D000141:Acidosis, Renal Tubular / Q000000981:diagnostic imaging* / Q000628:therapy; D000293:Adolescent; D001927:Brain Diseases / Q000000981:diagnostic imaging*; D002114:Calcinosis / Q000000981:diagnostic imaging*; D002648:Child; D005260:Female; D005529:Foot Bones / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010022:Osteopetrosis / Q000000981:diagnostic imaging*; D035781:Siblings; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed