Marble brain syndrome: Osteopetrosis, renal acidosis and calcification of the brain

Neuroradiology

Volumn 40, Issue 10, 1998, Pages 662-663

  Jacquemin, C ^a   Mullaney, P ^a   Svedberg, E ^a  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

Calcification intracranial; Computed tomography; Marble brain syndrome; Osteopetrosis; Renal acidosis

Indexed keywords

CARBONATE DEHYDRATASE II;

ALBERS SCHOENBERG DISEASE; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; HUMAN; KIDNEY TUBULE ACIDOSIS; MARBLE BRAIN SYNDROME; PRIORITY JOURNAL;

ACIDOSIS, RENAL TUBULAR; BRAIN; BRAIN DISEASES; CALCINOSIS; CARBONIC ANHYDRASES; CHILD; FEMALE; HUMANS; OSTEOPETROSIS; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0031726013     PISSN: 00283940     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002340050660     Document Type: Article

References (5)

1. Ohlsson A, Stark G, Sakati N (1980) Marble brain disease: recessive osteopetrosis, renal tubular acidosis and cerebral calcification in three Saudi Arabia families. Dev Med Child Neurol 22: 72-96
2. Sly WS, Whyte MP, Sundaram V, et al (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 313: 138-145
3. Al Rajeh S, El Mouzan MI, Ahlberg A, Ozaksoy D (1988) The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. Neuropediatrics 19: 162-165.
4. Gwinn JL, Lee FA (1976) Radiological case of the month. Am J Dis Child 130: 973-974
5. Lee JB, Tashjian Armen H Jr. Streeto JM, Frantz AG (1968) Familial pseudo-hypoparathyroidism, role of parathyroid hormone and thyrocalcitonin. N Engl J Med 279: 1179-1184