Mediobasal and mantle defect of the prosencephalon

Lobar holoprosencephaly, schizencephaly and diabetes insipidus

L. Sztriha, E. Várady, J. Hertecant, M. Nork

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

An infant is described who had a combination of lobar holoprosencephaly and open-lip schizencephaly. Midline fusion of the basal ganglia was associated with bilateral absence of abundant parts of the brain mantle. Agenesis of the corpus callosum, hypoplasia of the optic nerves and chiasm, absence of the septum pellucidum, posterior pituitary and olfactory bulbs were further components of the malformation. Blindness, intractable seizures, spastic tetraplegia, somatomental retardation and diabetes insipidus were the main clinical features. A defect in the induction of the mediobasal part of the prosencephalon and failure of cell proliferation can be responsible for this complex malformation. Recent results of homeobox gene research relevant to the development of the prosencephalon are discussed.

Original languageEnglish
Pages (from-to)272-275
Number of pages4
JournalNeuropediatrics
Volume29
Issue number5
DOIs
Publication statusPublished - Oct 1998

Fingerprint

Holoprosencephaly
Diabetes Insipidus
Prosencephalon
Agenesis of Corpus Callosum
Optic Chiasm
Quadriplegia
Homeobox Genes
Olfactory Bulb
Blindness
Optic Nerve
Lip
Basal Ganglia
Seizures
Cell Proliferation
Brain
Research
Schizencephaly
Absence of septum pellucidum

Keywords

  • Diabetes insipidus
  • Homeobox genes
  • Lobar holoprosencephaly
  • Mediobasal prosencephalic defect
  • Schizencephaly

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Mediobasal and mantle defect of the prosencephalon : Lobar holoprosencephaly, schizencephaly and diabetes insipidus. / Sztriha, L.; Várady, E.; Hertecant, J.; Nork, M.

In: Neuropediatrics, Vol. 29, No. 5, 10.1998, p. 272-275.

Research output: Contribution to journalArticle

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