Neuropathology of Raine syndrome

Acta Neuropathologica

Volumn 103, Issue 3, 2002, Pages 281-287

  Rickert, Christian H ^a   Rieder, Harald ^b   Rehder, Helga ^b   Hülskamp, Georg ^a   Hörnig Franz, Isabel ^a   Louwen, Frank ^a   Paulus, Werner ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Autosomal recessive; Calcospherites; Congenital malformation; Consanguinity; Intracranial calcification

Indexed keywords

AMYGDALOID NUCLEUS; ARTICLE; ASTROCYTOSIS; BASAL GANGLION; BLOOD VESSEL WALL; BRAIN BLOOD FLOW; BRAIN BLOOD VESSEL; BRAIN CALCIFICATION; BRAIN CORTEX; BRAIN NERVE CELL; BRAIN PERFUSION; BRAIN STEM; CAPILLARY DENSITY; CAPSULA INTERNA; CASE REPORT; CAUDATE NUCLEUS; CELL LOSS; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLUM; CHOROID PLEXUS; CONSANGUINITY; CONTROLLED STUDY; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DYSTROPHY; EPENDYMA CELL; FEMALE; FETUS; FRONTAL LOBE; GERM CELL; GESTATIONAL AGE; GLIOSIS; GLOBUS PALLIDUS; GRAY MATTER; HIPPOCAMPUS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPHYSIS; MACROPHAGE; MALE; MENINX; NEUROPATHOLOGY; NEUROPIL; NEWBORN; OCCIPITAL LOBE; OSTEOSCLEROSIS; PARIETAL LOBE; PRIORITY JOURNAL; PUTAMEN; SIBLING; SUBSTANTIA NIGRA; THALAMUS; WHITE MATTER;

BRAIN DISEASES; CALCINOSIS; CENTRAL NERVOUS SYSTEM; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; FEMALE; HUMANS; INFANT, NEWBORN; MALE; OSTEOSCLEROSIS; PREGNANCY; SYNDROME;

EID: 0036942142     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-001-0469-5     Document Type: Article

References (16)

1. Acosta AX, Peres LC, Chimelli LC, Pina-Neto JM (2000) Raine dysplasia: a Brazilian case with a mild radiological involvement. Clin Dysmorphol 9:99-101
2. Al Mane K, Al-Dayel F, McDonald P (1998) Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol 28:820-823
3. Al Mane K, Coates RK, McDonald P (1996) Intracranial calcification in Raine syndrome. Pediatr Radiol 26:55-58
4. Auer RN, Benveniste H (1997) Hypoxia and related conditions. In: Graham DI, Lantos PL (eds) Greenfield's neuropathology, 6th edn. Arnold, London, pp 264-265
5. Borch K, Greisen G (1998) Blood flow distribution in the normal human preterm brain. Pediat Res 43:28-33
6. FitzPatrick DR, Keeling JW, Evans MJ, Kann AE, Bell JE, Porteous MEM, Mills K, Winter RM, Clayton PT (1998) Clinical phenotype of desmosterolosis. Am J Med Genet 75:145-152
7. Friede RL (1989) Classification of cerebral mineralizations. In: Friede RL (ed) Developmental neuropathology. Springer, Berlin, pp 541-542
8. Kan AE, Kozlowski K (1992) New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43: 860-864
9. Kingston HM, Freeman JS, Hall CM (1991) A new lethal sclerosing bone dysplasia. Skelet Radiol 26:117-119
10. Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77: 371-381
11. Patel PJ, Kolawole TM, Al-Mofada S, Malabarey TM, Hulailah A (1992) Osteopetrosis: brain ultrasound and computed tomography findings. Eur J Paediatr 151:827-828
12. Raine J, Winter RM, Davey A, Tucker SM (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 26:786-788
13. Rejjal A (1998) Raine syndrome. Am J Med Genet 78:382-385
14. Rickert CH, August C, Brandt M, Wagner V, Paulus W (2000) Cerebral malakoplakia associated with Escherichia coli infection. Acta Neuropathol 99:595-598
15. Shalev SA, Shalev E, Reich D, Borochowitz ZU (1999) Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. Am J Med Genet 86:274-277
16. Stevens A, Chalk BT (1996) Pigments and minerals. In: Bancroft JD, Stevens A (eds) Theory and practice of histological techniques. Churchill Livingstone, New York, pp 243-267