Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome

Clinical Dysmorphology

Volumn 12, Issue 2, 2003, Pages 133-136

  Longman, Cheryl ^a   Tolmie, John ^a   McWilliam, Robert ^a   MacLennan, Alexander ^a  

^a ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Encephalopathy; Hypsarrhythmia; Leucomalacia; Optic atrophy

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DISEASE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; ENCEPHALOMALACIA; EPILEPSY; FEMALE; HUMAN; HYPSARRHYTHMIA; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PEHO SYNDROME; PRIORITY JOURNAL; RECURRENCE RISK;

BRAIN ISCHEMIA; CHILD; DIAGNOSTIC ERRORS; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; OPTIC ATROPHY; PREGNANCY; PRENATAL DIAGNOSIS; SPASMS, INFANTILE;

EID: 0037542602     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200304000-00012     Document Type: Article

References (5)

1. Chitty L, et al. (1996). PEHO or PEHO-like syndrome? Clin Dysmorphol 5:143-152.
2. Kristjansdottir R, Uvebrant P, Wiklund L-M (2000). Clinical characteristics of children with cerebral white matter abnormalities. Eur J Paediatr Neurol 4:17-26.
3. Salonen R, et al. (1991). Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet 39:287-293.
4. Somer M (1993a). Diagnostic criteria and genetic of the PEHO syndrome. J Med Genet 30:932-936.
5. Somer M, et al. (1993b). PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. Am J Neuroradiol 14:861-867.