Precocious puberty in two girls with PEHO syndrome: A clinical feature not previously described

Journal of Child Neurology

Volumn 26, Issue 7, 2011, Pages 851-857

  Alfadhel, Majid ^a   Yong, Siu Li ^a   Lillquist, Yolanda ^a   Langlois, Sylvie ^a  

^a CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

cerebellar atrophy; edema; hypsarrhythmia; optic atrophy; PEHO syndrome; precocious puberty; progressive encephalopathy

Indexed keywords

LAMOTRIGINE; PYRIDOXINE; VIGABATRIN;

ARTICLE; ASTIGMATISM; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; CHILD; CLINICAL FEATURE; CLUBFOOT; DISEASE COURSE; FEEDING DISORDER; FEMALE; FOLLOW UP; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; MYOPIA; OPTIC NERVE ATROPHY; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; ADULT; BRAIN DAMAGE, CHRONIC; BRAIN EDEMA; CHILD; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; HUMANS; INFANT; NEURODEGENERATIVE DISEASES; OPTIC ATROPHY; PUBERTY, PRECOCIOUS; SPASMS, INFANTILE;

EID: 79959744903     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810396582     Document Type: Article

References (27)

1. Salonen R, Somer M, Haltia M, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet. 1991;39:287-293.
2. Somer M. Diagnostic criteria and genetics of the PEHO syndrome. J Med Genet. 1993;30:932-936. (Pubitemid 23330042)
3. Somer M, Salonen O, Pihko H, Norio R. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR Am J Neuroradiol. 1993;14:861-867. (Pubitemid 23213378)
4. Field MJ, Grattan-Smith P, Piper SM, et al. PEHO and PEHO-like syndromes: report of 5 Australian cases. Am J Med Genet. 2003; 122A:6-12. (Pubitemid 37071416)
5. Burkett G, Yasin SY, Palow D, et al. Patterns of cocaine binging: effect on pregnancy. Am J Obstet Gynecol. 1994;171:372-378.
6. Chasnoff IJ, Burns WJ, Schnoll SH, Burns KA. Cocaine use in pregnancy. N Engl J Med. 1985;313:666-669. (Pubitemid 15238087)
7. Kasuya H, Shimizu T, Nakamura S, Takakura K. Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst. 1998;14:230-235. (Pubitemid 28317411)
8. North KN, Fulton AB, Whiteman DA. Identical twins with Cohen syndrome. Am J Med Genet. 1995;58:54-58.
9. Katzos G, Triantafyllou P, Gombakis N, et al. Thelarche variant in a girl with Angelman syndrome. Brain Dev. 2004;26:339-341. (Pubitemid 38692438)
10. Partsch CJ, Japing I, Siebert R, et al. Central precocious puberty in girls with Williams syndrome. J Pediatr. 2002;141:441-444.
11. Fryns JP, Devriendt K. Precocious puberty in Klinefelter syndrome: non-specific result of neurological deficit? Am J Med Genet. 1997;72:122.
12. Grosso S, Balestri P, Anichini C, et al. Pubertal disorders in inv dup (15) syndrome. Gynecol Endocrinol. 2001;15:165-169.
13. Saletti V, Canafoglia L, Cambiaso P, et al. A CDKL5 mutated child with precocious puberty. Am J Med Genet. 2009;149A: 1046-1051.
14. Riikonen R, Somer M, Turpeinen U. Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with PEHO syndrome (progressive encephalopathy, hypsarrhythmia and optic atrophy) and cerebellar degeneration. Epilepsia. 1999;40: 1642-1648. (Pubitemid 29518096)
15. Vanhatalo S, Riikonen R. Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Epilepsia. 2000;41:705-708. (Pubitemid 30390422)
16. Riikonen R. The PEHO syndrome. Brain Dev. 2001;23:765-769. (Pubitemid 32999162)
17. Caraballo R, Carignani M, Chamoles N, Fejerman N. PEHO syndrome in 3 non-Finnish patients. Pediatr Neurol. 1994;11:170.
18. Fujimoto S, Yokochi K, Nakano M, Wada Y. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. Neuropediatrics. 1995;26:270-272.
19. Shevell MI, Colangelo P, Treacy E, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Pediatr Neurol. 1996;15(4):337-339. (Pubitemid 26418935)
20. Chitty LS, Robb S, Berry C, et al. PEHO or PEHO-like syndrome? Clin Dysmorphol. 1996;5:143-152.
21. Tanaka M, Tanaka Y, Hamano S, et al.Acase of PEHO(progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings [in Japanese]. No To Hattatsu. 1997;29:488-493. (Pubitemid 27492278)
22. Tekgül H, Tütüncüoǧlu S. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. Turk J Pediatr. 2000;42:246-249.
23. Vanhatalo S, Somer M, Barth PG. Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. Neuropediatrics. 2002;33(2):100-104.
24. Longman C, Tolmie J, McWilliam R, MacLennan A. Cranial magnetic resonance imaging mistakenly suggests prenatal ischemia in PEHO-like syndrome. Clin Dysmorphol. 2003; 12:133-136.
25. Goizet C, Espil-Taris C, Husson M, et al. A patient with hydranencephaly and PEHO-like dysmorphic features. Ann Genet. 2003;46:25-28. (Pubitemid 36736283)
26. Klein A, Schmitt B, Boltshauser E. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child. Eur J Paediatr Neurol. 2004;8:317-321. (Pubitemid 39497258)
27. D'Arrigo S, Grazia BM, Faravelli F, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? J Child Neurol. 2005;20:454-456. (Pubitemid 40873056)