An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury

European Journal of Pediatrics

Volumn 163, Issue 7, 2004, Pages 420-421

  Francis, Peter J ^a   Calver, David M ^a   Barnfield, Peter ^a   Turner, Charles ^a   Dalton, R Neil ^a   Champion, Mike P ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CYANOCOBALAMIN;

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FEMALE; HOMOCYSTINURIA; HUMAN; INFANT; LABORATORY TEST; METHYLMALONIC ACIDURIA; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RETINA HEMORRHAGE; SUBDURAL HEMATOMA; TREATMENT OUTCOME;

EID: 3142681704     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1440-y     Document Type: Article

References (4)

1. Hoffmann G, Naughton E (1998) Abuse or metabolic disorder. Arch Dis Child 78: 399
2. Hogeveen M, Blom HJ, van Amerongen M, Boogmans B, Beynum M, van der Bor M (2002) Hyperhomocysteinemia as risk factor for ischaemic and hemorrhagic stroke in newborn infants. J Pediatr 141: 429-431
3. Rosenblatt D, Aspler A, Shevell M, Pletcher B, Fenton W, Seashore M (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20: 528-538
4. Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino M, Fonda C, Zammarchi E (2001) Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. Am J Neuroradiol 22: 554-563