Holoprosencephaly with neurogenic hypernatremia: A new case

Child's Nervous System

Volumn 24, Issue 1, 2008, Pages 139-142

  Savasta, S ^a   Chiapedi, S ^a   Borali, E ^a   Perrini, S ^a   Sepe, V ^a   Caimmi, S ^a   Marseglia, G L ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Adipsia; Corpus callosum; Holoprosencephaly; Microcephaly; Midline malformations; Neurogenic hypernatremia

Indexed keywords

ALDOSTERONE; SODIUM; VASOPRESSIN;

ADULT; ALDOSTERONE BLOOD LEVEL; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; GROWTH RETARDATION; HOLOPROSENCEPHALY; HUMAN; HYPERNATREMIA; MALE; MICROCEPHALY; PLASMA OSMOLALITY; PRIORITY JOURNAL; QUADRIPLEGIA; SODIUM BLOOD LEVEL; SPASTIC PARESIS; VASOPRESSIN BLOOD LEVEL;

FRONTAL BONE; HOLOPROSENCEPHALY; HUMANS; HYPERNATREMIA; INFANT, NEWBORN; MALE;

EID: 36549024458     PISSN: 02567040     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00381-007-0431-5     Document Type: Article

References (23)

1. Arrants Gomez J, Vidal Sampedro J, Herrantz Fernandez JL (1987) Semilobar holoprosencephaly associated with central diabetes insipidus. An Esp Pediatr 27(5):385-389
2. Capobianco G, Cherchi PL, Ambrosini G, Cosmi E, Andrisani A, Dessole S (2007) Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: A 2D ultrasound diagnosis and review of the literature. Arch Gynecol Obstet 275(5):385-387
3. Castillo M, Mukherjisk SK (1995) Imaging of facial anomalies. Curr Probl Diagn Radiol 25(5):169-188
4. Cuisset JM, Cuvellier JC, Vallee L, Ryckewaert P, Soto-ares G, Nuyts JP (1999) Holoprosencephaly with neurogenic hypernatremia. Arch Pediatr 6(1):43-45
5. Den Hollander NS, Wessels MW, Los FJ, Ursem NT, Niermeijer MF, Wladimiroff JW (2000) Congenital microcephaly detected by prenatal ultrasound: Genetic aspect and clinical significance. Ultrasound Obstet Gynecol 15(4):282-287
6. El-Jaik KB, Powers SE, Bartholin L, Myers Kenneth R, Hahn J, Orioli I, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M (2007) Functional analyses of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab 90(1):97-111
7. Gaggero R, Pesce F, Barcella L, Boragno F, Corea D, Veneselli E (1991) La sindrome di ipernatremia neurogena nell'età evolutiva. Minerva Pediatr 43:39-43
8. Hahn JS, Hahn SM, Kammann H, Barkovich AJ, Clegg NJ, Delgrado MR, Levey E (2005) Endocrine disorders associated with holoprosencephaly. J Pediatr Endocrinol Metab 18(10):935-941
9. Jones K (1988) Smith's recognizable patterns of human malformation. Saunders, Philadelphia, pp 546-547
10. Karabay-bayazit A, Herguner O, Altunbasak S, Noyan A, Yukel B, Anarat A (2002) Hypodispsia-hypernatremia syndrome associated with holoprosencephaly in a child: A case report. Turk J Pediatr 44(3):263-266
11. Kinsman SL, Plawner LL, Hahn JS (2000) Holoprosencephaly: Recent advances and new insights. Curr Opin Neurol 13(2):127-132
12. Menkes JH, Sarnat HB, Maria BL (2000) Child neurology, 7th edn. Lippincott Williams and Wilkins, London
13. Olsen CL, Hughes JP, Youngblood LG, Sharpe-Stimac M (1997) Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New-York State, 1984-1989. Am J Med Genet 73:217-226
14. Perelman R, Czernichow P, Danis F, Nathanson M, Gaudelus J, Charitat M (1979) Hypernatrémie chronique neurogène avec arhinencéphalie. Ann Pédiatr 26:173-178
15. Picone O, Hirt R, Suarez B, Coulomb A, Tachdjian G, Frydman R, Senat MV (2006) Prenatal diagnosis of possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging. Ultrasound Obstet Gynecol 28(2):229-231
16. Sarnat HB, Flores-Sarnat L (2001) Neuropathologic research strategies in holoprosencephaly. J Child Neurol 16:919-931
17. Schaad U, Vassella F, Zuppinger K, Oetliker O (1979) Hypodipsia-hypernatremia syndrome. Helv Paediatr Acta 34(1):63-76
18. Segar WE (1966) Chronic hyperosmolarity. Am J Dis Child 112:318-327
19. Siddell EP, Longobucco DB (1995) Holoprosencephaly: A case presentation. Neonatal Netw 14(1):21-26
20. Simon EM, Barkovich AJ (2001) Holoprosencephaly: New concepts. Magn Reson Imaging Clin N Am 9:149-164
21. Takahashi S, Takahashi Y, Kondo N, Orii T (2001) Epileptic seizures and structural abnormalities in a patient with holoprosencephaly. Brain Dev 23(4):264-268
22. Thakur S, Singh R, Pradhan M, Phadke SR (2004) Spectrum of holoprosencephaly. Indian J Pediatr 71:593-597
23. Hasegawa Yukhiro, Hasegawa T, Yokoyama T, Kotoh S, Tsuchiya Y (1990) Holoprosencephaly associated with diabetes insipidus and Syndrome of inappropriate secretion of antidiuretic hormone. J Pediatr 117:756-757