Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder

Takahashi, Satoru; Miyamoto, Akie; Oki, Junichi; Saino, Tomoyuki; Inyaku, F

doi:10.1016/0887-8994(95)00146-7

Cited by 18 publications

(4 citation statements)

References 13 publications

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“…9 They also hypothesize that the variation in seizure severity may be due to the differences in sequential maturation of axonal terminals. [14][15][16][17][18] Our study confirms previous findings of posterior pituitary dysfunctions being more common than anterior ones. 10 Endocrinologic dysfunctions were common in HPE and correlated with the degree of hypothalamic nonseparation.…”

supporting

confidence: 89%

“…This is quite a contrast to other malformations such as classic lissencephaly (a primary migrational defect involving entire cerebral cortex), in which epilepsy and severe mental retardation are universal. 16,17 Better imaging of the pituitary gland and hypothalamus with detailed, high-resolution MRI through the region may answer these questions. This is not surprising, as the hypothalamus is located very medial and rostral in the early fate maps and therefore is more frequently noncleaved than structures located further from the midline or more caudally.…”

mentioning

confidence: 99%

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Neuroanatomy of holoprosencephaly as predictor of function

Plawner¹,

Delgado²,

Miller³

et al. 2002

Neurology

102

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supporting

confidence: 89%

mentioning

confidence: 99%

Neuroanatomy of holoprosencephaly as predictor of function

Plawner¹,

Delgado²,

Miller³

et al. 2002

Neurology

102

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“…It is rarely observed in septo-optic dysplasia and holoprosencephaly [1,14]. The inherited neurohypophyseal diabetes insipidus (OMIM 125700/192 340) is compatible with normal neuroimaging findings.…”

Section: Discussionmentioning

confidence: 80%

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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“…In the major type (alobar) of holoprosencephaly, the brain forms an undivided monoventricular mass (4). The incidence of alobar holoprosencephaly is about 1 case in 5,000 live births with a high rate of perinatal mortality (5). To our knowledge, this rare form of congenital abnormality has not been reported in the anesthesia literature.…”

mentioning

confidence: 96%

Recurrent Bradycardia and Delayed Recovery in a Neonate Following Repair of Nasofrontal Encephalocoele with Holoprosencephaly and Single Cerebral Ventricle

Bharti

Dash²,

Mahapatra³

2003

Journal of Neurosurgical Anesthesiology

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Holoprosencephaly and single cerebral ventricle are uncommon congenital anomalies that are associated with a high rate of perinatal mortality. We describe a neonate who developed recurrent bradycardia along with delayed recovery following frontal craniotomy for the repair of a nasofrontal encephalocoele associated with holoprosencephaly and a single cerebral ventricle. The neonate, however, recovered following elective ventilation. Etiopathogenesis and management of such complications are discussed.

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Alobar holoprosencephaly with diabetes insipidus and neuronal migration disorder

Cited by 18 publications

References 13 publications

Neuroanatomy of holoprosencephaly as predictor of function

Neuroanatomy of holoprosencephaly as predictor of function

Cerebellar Agenesis and Diabetes Insipidus

Recurrent Bradycardia and Delayed Recovery in a Neonate Following Repair of Nasofrontal Encephalocoele with Holoprosencephaly and Single Cerebral Ventricle

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