Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome

Tröbs, Ralf-Bodo; Barenberg, Karin; Hemminghaus, Michael; Günther, M; Neid, Matthias

doi:10.1016/j.jpedsurg.2010.06.029

Cited by 15 publications

(18 citation statements)

References 6 publications

(9 reference statements)

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“…It has also been hypothesized that AOS results from the interruption of early embryonic blood supply in subclavian arteries, and that the gene predisposing to this interruption is inherited in an autosomal dominant fashion [8]. Other theories are based on developmental disorders of neural tube closure, amniotic adhesions or intrauterine external compressions [16]. …”

Section: Discussionmentioning

confidence: 99%

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Brunetti

2013

Pol J Radiol

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SummaryBackgroundTo describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300).Material/MethodsBrain MRI and MR angiography were performed at 1.5T.ResultsThe siblings presented cerebellar cortex dysplasia characterized by the presence of cysts.ConclusionsAbnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS.

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Section: Discussionmentioning

confidence: 99%

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Brunetti

2013

Pol J Radiol

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“…Other threats to survival include thrombosis of the superior sagittal sinus [26], meningitis [25], sepsis [27], local infection [2,18,19,24,28], CSF leak [25,29,30], and hyponatremia [13,17]. Defects in the dura may also allow herniation or prolapse of the brain with mechanical injury to the parenchyma [3,25,29,30,31,32] and cerebral necrosis [17].…”

Section: Risksmentioning

confidence: 99%

“…Defects in the dura may also allow herniation or prolapse of the brain with mechanical injury to the parenchyma [3,25,29,30,31,32] and cerebral necrosis [17]. Exposed venous sinuses and dura must be kept moist with saline-soaked sterile bandages for the few hours between birth and wound coverage.…”

Section: Risksmentioning

confidence: 99%

“…An expanding brain, whether from normal growth or hydrocephalus, exerts a centrifugal force against the undersurface of scalp flaps and can contribute to their delayed breakdown [20,25]. A small percentage of patients with aplasia cutis congenita have hydrocephalus and require CSF diversion [25,30]. Any incision in the scalp to implant or revise a CSF shunt must often be made through a rotated scalp flap having a precarious vascular supply.…”

Section: Risksmentioning

confidence: 99%

“…The exposed dura must be kept continuously moist until securely covered with viable tissue. If a portion of the dura is absent, the incomplete dural envelope allows relentless cerebral herniation as the unrestrained neonatal brain sags from gravitational effects or expands, whether from normal growth, hydrocephalus, or edema related to cerebritis [25,30]. Dural defects, often several centimeters in diameter, require surgical closure, preferably within the first hours or day following birth.…”

Section: Management Of the Duramentioning

confidence: 99%

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Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management

Winston

Ketch²

2016

Pediatr Neurosurg

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Background/Aims: The object of this report is to review the management of patients having the composite type of aplasia cutis congenita in the context of the relevant literature on this condition. Methods: Clinical records, neuroimaging and photographic documentation of identified cases of composite type aplasia cutis congenita, with a comprehensive review of the literature, are the material basis of this report. Results: Two neonates with composite type aplasia cutis congenita are described as examples of this disorder, and their management, including complications, is discussed. Both had satisfactory outcomes. Conclusions: Early aggressive surgical management with scalp rotation flaps has a low rate of complications, provides satisfactory functional and esthetic outcome, minimizes hospital stays, and should provide cost-effective care by reduction of the time to secure wound closure. Most bony defects, even large ones, commonly ossify completely. Optimal case management requires a synchronized neurosurgical and plastic surgical team. Intuitive nonsurgical and surgical approaches by the inexperienced can be hazardous.

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Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

Lukas

Harald

Sanz

et al. 2022

American J of Med Genetics Pt A

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Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams-Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological findings. Associated genes in AOS are in the Notch and the CDC42/Rac1 signaling pathways. Both autosomal-dominant and autosomal-recessive inheritances have been reported, the latter with pathogenic variants in DOCK6 or EOGT. The EOGTassociated recessive type of AOS has been postulated to present a more favorable prognosis. We here report a 12-year-old girl from a refugee family of Iraq with consanguineous parents. She was born with a severe phenotype of AOS presenting a

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Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome

Cited by 15 publications

References 6 publications

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family

Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management

Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

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