| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From Stanford University School of Medicine, Stanford, CA, and Lucile Packard Children’s Hospital (Drs. Plawner and Hahn and V.T. Sweet), Palo Alto, CA; Texas Scottish Rite Hospital (Drs. Delgado, Miller, and Clegg), Dallas, TX; Kennedy Krieger Institute (Drs. Levey, Kinsman and Stashinko), Baltimore, MD; University of California at San Francisco (Dr. Barkovich); and Children’s Hospital of Philadelphia (Dr. Simon), PA.
Address correspondence and reprint requests to Dr. Jin S. Hahn, Department of Neurology, A343, 300 Pasteur Drive, Stanford, CA 94305-5235; e-mail: jhahn{at}stanford.edu
Background: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described.
Objective: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function.
Methods: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation.
Results: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p < 0.05). Hypotonia correlated with the grade of HPE (p < 0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p < 0.01).
Conclusions: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.
This article has been cited by other articles:
|
|
 |
|
  F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domene, J I Velez, N Zhou, D Hadley, J Z Balog, R Long, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function J. Med. Genet., June 1, 2009; 46(6): 389 - 398. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Biancheri, A. Rossi, P. Tortori-Donati, S. Stringara, S. Bonifacino, and C. Minetti Middle interhemispheric variant of holoprosencephaly: A very mild clinical case Neurology, December 14, 2004; 63(11): 2194 - 2196. [Full Text] [PDF]
|
|
|
|
 |
|
 J. S. Hahn and D. M. Olson Etiology of Neonatal Seizures NeoReviews, August 1, 2004; 5(8): e327 - e335. [Full Text] [PDF]
|
|
|
|
 |
|
 S. B. Pulitzer, E. M. Simon, T. M. Crombleholme, and J. A. Golden Prenatal MR Findings of the Middle Interhemispheric Variant of Holoprosencephaly AJNR Am. J. Neuroradiol., June 1, 2004; 25(6): 1034 - 1036. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A.J. Lewis, E.M. Simon, A.J. Barkovich, N.J. Clegg, M.R. Delgado, E. Levey, and J.S. Hahn Middle interhemispheric variant of holoprosencephaly: A distinct cliniconeuroradiologic subtype Neurology, December 24, 2002; 59(12): 1860 - 1865. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
