Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: A rare brain malformation syndrome associated with mental retardation and seizures

Neuropediatrics

Volumn 35, Issue 6, 2004, Pages 353-359

  Mirzaa, G ^a   Dodge, N N ^b   Glass, I ^c   Day, C ^d   Gripp, K ^e   Nicholson, L ^e   Straub, V ^f   Voit, T ^f   Dobyns, William B ^g  

^a ARABIAN GULF UNIVERSITY   (Bahrain)

^b TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e DUPONT COMPANY   (United States)

^f UNIVERSITY OF DUISBURG ESSEN   (Germany)

^g UNIVERSITY OF CHICAGO   (United States)

Author keywords

Hydrocephalus; Megalencephaly; MPPH syndrome; Polymicrogyria; Postaxial polydactyly

Indexed keywords

ALEXANDER DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; FEMALE; HUMAN; HYDROCEPHALUS; INFANT; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROGYRIA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PRIORITY JOURNAL; REVIEW; SEIZURE; SYNDROME DELINEATION;

BRAIN; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYDROCEPHALUS; HYPERTROPHY; INFANT; MALE; POLYDACTYLY; SYNDROME;

EID: 11144322795     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-830497     Document Type: Review

References (20)

1. Adamsbaum C, Robain O, Cohen PA, Delalande O, Fohlen M, Kalifa G. Focal cortical dysplasia and hemimegalencephaly: Histological and neuroimaging correlations. Pediatr Radiol 1998; 28: 583-590
2. Amir N, Gross-Kieselstein E, Hirsch HJ, Lax E, Silverberg-Shalev R. Weaver-Smith syndrome. A case study with long-term follow-up. Am J Dis Child 1984; 138: 1113-1117
3. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL et al. Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999; 84: 389-395
4. Dekaban AS, Priestly BL. Megalencephaly. In: Vinken PJ, Bruyn G (Eds). Handbook of Clinical Neurology. Amsterdam: North Holland, 1977: 647-660
5. DeMyer W. Megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. Neurology 1972; 22: 634-643
6. DeMyer W. Megalencephaly: Types, clinical syndromes, and management. Pediatr Neurol 1986; 2: 321-328
7. Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL. Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. Arch Dermatol 1996; 132: 1214-1218
8. Gohlich-Ratmann G, Baethmann M, Lorenz P, Gartner J, Goebel HH, Engelbrecht V et al. Megalencephaly, mega corpus callosum, and complete lack of motor development: A previously undescribed syndrome. Am J Med Genet 1998; 79: 161-167
9. Gooskens RH, Willemse J, Bijlsma JB, Hanlo PW. Megalencephaly: Definition and classification. Brain Dev 1988; 10: 1-7
10. Hanssen AM, Werquin H, Suys E, Fryns JP. Cowden syndrome: Report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin Genet 1993; 44: 281-286
11. Ho KL, Chang CH, Yang SS, Chason JL Neuropathologic findings in thanatophoric dysplasia. Acta Neuropathol 1984; 63: 218-228
12. Laubscher B, Deonna T, Uske A, van Meile G. Primitive megalencephaly in children: Natural history, medium term prognosis with special reference to external hydrocephalus. Eur J Pediatr 1990; 149: 502-507
13. Okumura K, Sasaki Y, Ohyama M, Nishi T. Bannayan syndrome - generalized lipomatosis associated with megalencephaly and macrodactyly. Acta Pathol Jpn 1986; 36: 269-277
14. Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP et al. Epidermal nevus syndrome: A neurological variant with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. Neurology 1991; 41: 266-271
15. Rypens F, Sonigo P, Aubry MC, Delezoide AL, Cessot F, Brunelle F. Prenatal MR diagnosis of a thick corpus callosum. AJNR Am J Neuroradiol 1996; 17: 1918-1920
16. Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. The neuroimaging findings in Soto's syndrome. Am J Med Genet 1997; 68: 462-465
17. Torregrosa A, Marti-Bonmati L, Higueras V, Poyatos C, Sanchis A. Klippel-Trenaunay syndrome: Frequency of cerebral and cerebellar hemihypertrophy on MRI. Neuroradiology 2000; 42: 420-423
18. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: Application of diagnostic criteria to published cases. Am J Med Genet 2004; 130A: 111
19. Williams DW 3rd, Elster AD. Cranial MR imaging in hypomelanosis of Ito. J Comput Assist Tomogr 1990; 14: 981-983
20. Winship IM. Soto's syndrome - autosomal dominant inheritance substantiated. Clin Genet 1985; 28: 243-246