Observations on the pathology of the Moebius syndrome

Pitner, Samuel E.; Edwards, James E.; McCormick, William F.

doi:10.1136/jnnp.28.4.362

Cited by 74 publications

(19 citation statements)

References 21 publications

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“…The most common finding in Moebius syndrome is brainstem hypoplasia [29,30], which was similarly explained by the disruption theory, as symmetric tegmental infarctions in the fetal or neonatal brainstem were related to an episode of hypoperfusion from the basilar artery [31]. In the literature, there is another case of unilateral cerebellar hypoplasia in a patient with Moebius syndrome [11,32] that was explained to result from a vascular disruption involving basilar artery. The other patient with a syndromic diagnosis in our series was patient 7 with NF 1, who also had a prenatal history of abortion threat at first month of gestation.…”

Section: Pathogenesis Of Unilateral Cerebral Hypoplasiamentioning

confidence: 99%

Unilateral Cerebellar Hypoplasia with Different Clinical Features

et al. 2010

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Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia.

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Section: Pathogenesis Of Unilateral Cerebral Hypoplasiamentioning

confidence: 99%

Unilateral Cerebellar Hypoplasia with Different Clinical Features

et al. 2010

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“…While in general supporting the idea that Mobius syndrome may, on analogy with arthrogryposis multiplex (Pitner et al, 1965), have nuclear, peripheral nerve, or a primary muscular basis or even a combination of the three, it is considered that in the present cases the cause of the ocular weakness is myopathy. The frequent association of deformities in congenital oculo-facial palsy also points to involvement of structures of more than one embryological layer at about the second month of foetal life (Evans, 1955) and when fully manifested gives the multiple features found in status Ullrich-Bonnavie (Ullrich, 1949).…”

Section: Nature Of the Eye Signs In The Present Casesmentioning

confidence: 76%

“…Pitner, Edwards, and McCormick (1965) give an authoritative review of pathological studies in Mobius syndrome and add a detailed report of the necropsy of a white male infant who died aged 48 days. This infant was said to have had on clinical examination facial diplegia, inability to abduct either eye, and atrophy of the right side of the tongue.…”

Section: Nature Of the Eye Signs In The Present Casesmentioning

confidence: 99%

Congenital ophthalmoplegia. A myopathic aetiology in two siblings.

Hurwitz¹,

Maguire²,

Fannin³

1968

Journal of Neurology, Neurosurgery & Psychiatry

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“…However, a patient with Moebius syndrome with evidence of anaesthesia in divisions one and two of the trigeminal nerve had normal trigeminal nuclei at autopsy. 6 Interestingly, the patients described by Keys et al defied Rosenberg's classification by having trigeminal nerve divisions one and two anaesthesia but no systemic developmental abnormalities. Corneal nerves could be seen in the corneas of all our patients.…”

Section: Discussionmentioning

confidence: 99%

Familial congenital corneal anaesthesia

Clarke

Sullivan

Kobayashi

et al. 1992

Australian and New Zealand Journal of Ophthalmology

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Congenital corneal anaesthesia is a cause of severe corneal ulceration and scarring in childhood. Although uncommon, it may be underdiagnosed when present as an isolated entity. Measures such as the use of elbow splints and tarsorrhaphy may be necessary to prevent visual loss.In rare instances, the condition may be inherited. A family is presented with autosomal dominant isolated congenital corneal anaesthesia, and the systemic associations and treatment of the condition are reviewed.

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Observations on the pathology of the Moebius syndrome

Cited by 74 publications

References 21 publications

Unilateral Cerebellar Hypoplasia with Different Clinical Features

Unilateral Cerebellar Hypoplasia with Different Clinical Features

Congenital ophthalmoplegia. A myopathic aetiology in two siblings.

Familial congenital corneal anaesthesia

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