A case of holoprosencephaly: With possible association of Dandy-Walker cyst

Hayashi, Takashi; Takagi, Shigeyuki; Kuramoto, Shinken

doi:10.1016/s0387-7604(81)80012-5

Cited by 9 publications

(2 citation statements)

References 4 publications

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“…ZIC5 may, thus, also represent a susceptibility locus for neural tube defects in humans. It is interesting to also note that several reports in literature allude to a possible role of Zic5 and Zic2 interaction in cerebellar development, as patients with and without known deletions of 13q sometimes have both HPE and DWM (45)(46)(47)(48). This leads to the hypothesis that loss of ZIC5 together with ZIC2 results in a DWM phenotype in addition to HPE, while loss of ZIC2 only results in HPE.…”

Section: Zic5 Deficiency Neural Tube Defects and Neural Crest Abnormmentioning

confidence: 99%

The ZIC gene family in development and disease

2005

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The human ZIC gene family is comprised of five members encoding zinc-finger transcription factors, which are the vertebrate homologs of the Drosophila odd-paired gene. Mutations in ZIC genes in humans have recently been implicated in a wide variety of congenital malformations, including Dandy-Walker malformation, holoprosencephaly, neural tube defects, and heterotaxy. Mutant analysis of these genes in mice has underscored the conserved developmental roles of these genes. Further, this analysis has begun to elucidate the molecular and developmental mechanisms underlying these important birth defects.

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Section: Zic5 Deficiency Neural Tube Defects and Neural Crest Abnormmentioning

confidence: 99%

The ZIC gene family in development and disease

2005

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“…Cerebellar agenesis (CA) occurs either as an isolated defect [9] or in association with other, mostly severe, developmental abnormalities of the CNS such as holoporosencephaly, arrhinencephaly or microcephaly [6,8,10]. In two specific instances, cerebellar agenesis has been characterized as syndromic: in the context of a complex syndrome associated with X-linked hydrocephalus [11] and in association with autosomal recessive diabetes mellitus with microcephaly [7].…”

Section: Introductionmentioning

confidence: 99%

Cerebellar Agenesis and Diabetes Insipidus

Zafeiriou

Vargiami²,

Boltshauser³

2004

Neuropediatrics

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We report on a 7-year-old female, born after a normal pregnancy at term, previously referred because of delayed psychomotor development. MRI revealed isolated cerebellar agenesis (CA) with only minute tissue remnants of the anterior vermis/paravermian anterior quadrangular lobes and pontine hypoplasia. The patient demonstrated truncal ataxia, saccadic ocular pursuit and mild gaze evoked nystagmus. At the age of 2.5 years, the girl achieved independent walking, though with a markedly ataxic gait; at the same age diabetes insipidus was recognized and appropriately treated. This association has not been reported before. At the ages of 3.5 and 6.5 years, her developmental quotient (DQ) was 65 and 60, respectively, with a very poor vocabulary and cerebellar dysarthria. The term "agenesis" is problematic as several reports describe considerable cerebellar tissue remnants and may include pontocerebellar hypoplasia. A literature review disclosed only a few patients with CA (defined in a strict sense) diagnosed in vivo by MRI. It is questionable whether asymptomatic CA occurs.

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Neuropathology of holoprosencephaly

Fallet-Bianco

2018

American J of Med Genetics Pt C

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Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. The spectrum of HPE is very broad and encompasses various neuropathological phenotypes of different severity. The recent literature has demonstrated that the phenotypic variability of HPE ranges from aprosencephaly-atelencephaly, at the most severe end, to milder forms such as the "middle interhemispheric variant" of HPE at the less severe end of the spectrum. Between them, different intermediate forms demonstrate a continuum in a wide phenotypic spectrum rather than well-defined categories. Although the term "HPE" suggests a disorder affecting only the prosencephalon, other brain structures are involved, underlining the complexity of the malformation. Because of close spatiotemporal interactions and common signaling pathways contributing to the development of both brain and face, concomitant facial and ocular anomalies are associated with brain malformation. In this review, the characteristic neuropathological features of the various forms of HPE are described as well as their associated brain, face, and ocular malformations, to delineate the different phenotypes.

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A case of holoprosencephaly: With possible association of Dandy-Walker cyst

Cited by 9 publications

References 4 publications

The ZIC gene family in development and disease

The ZIC gene family in development and disease

Cerebellar Agenesis and Diabetes Insipidus

Neuropathology of holoprosencephaly

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