Fig 15 - uploaded by Shahina Bano
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Semilobar holoprosencephaly. Axial T2W MRI brain shows H-shaped monoventricle with rudimentary third ventricle (arrow). Basal ganglia and thalami are partially fused. Note the presence of callosal splenium(thin black arrow) and a small dorsal interhemispheric cyst(asterix). (From Barcovich AJ. Pediatric Neuroimaging ((4 th edn). Philadelphia: Lippincott Williams & Wilkins).
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... Central nervous system anomalies (CNSA) represent a wide range of congenital birth defects, with an observed incidence of approximately 1% of all births (Bano 2012). The true incidence is difficult to assess and could be much higher because such malformations are a leading cause of spontaneous abortion and termination of pregnancy (Frey and Hauser 2003;Girgis et al. 2010). ...
Background:
Central nervous system anomalies represent a wide range of congenital birth defects, with an incidence of approximately 1% of all births. They are currently diagnosed using ultrasound evaluation. However, there is strong need for a more accurate and less operator-dependent screening method.
Objectives:
To perform a characterization of maternal serum in order to build a metabolomic fingerprint resulting from congenital anomalies of the central nervous system.
Methods:
This is a case-control pilot study. Metabolomic profiles were obtained from serum of 168 mothers (98 controls and 70 cases), using gas chromatography coupled to mass spectrometry. Nine machine learning and classification models were built and optimized. An ensemble model was built based on results from the individual models. All samples were randomly divided into two groups. One was used as training set, the other one for diagnostic performance assessment.
Results:
Ensemble machine learning model correctly classified all cases and controls. Propanoic, lactic, gluconic, benzoic, oxalic, 2-hydroxy-3-methylbutyric, acetic, lauric, myristic and stearic acid and myo-inositol and mannose were selected as the most relevant metabolites in class separation.
Conclusion:
The metabolomic signature of second trimester maternal serum from pregnancies affected by a fetal central nervous system anomaly is quantifiably different from that of a normal pregnancy. Maternal serum metabolomics is therefore a promising tool for the accurate and sensitive screening of such congenital defects. Moreover, the details of the most relevant metabolites and their respective biochemical pathways allow better understanding of the overall pathophysiology of affected pregnancies.
... Central nervous system anomalies (CNSA) represent a wide range of congenital birth defects, with an observed incidence of approximately 1% of all births (Bano 2012). The true 1 3 incidence is difficult to assess and could be much higher because such malformations are a leading cause of spontaneous abortion and termination of pregnancy (Frey and Hauser 2003;Girgis et al. 2010). ...
Background
Central nervous system anomalies represent a wide range of congenital birth defects, with an incidence of approximately 1% of all births. They are currently diagnosed using ultrasound evaluation. However, there is strong need for a more accurate and less operator-dependent screening method.
Objectives
To perform a characterization of maternal serum in order to build a metabolomic fingerprint resulting from congenital anomalies of the central nervous system.
Methods
This is a case–control pilot study. Metabolomic profiles were obtained from serum of 168 mothers (98 controls and 70 cases), using gas chromatography coupled to mass spectrometry. Nine machine learning and classification models were built and optimized. An ensemble model was built based on results from the individual models. All samples were randomly divided into two groups. One was used as training set, the other one for diagnostic performance assessment.
Results
Ensemble machine learning model correctly classified all cases and controls. Propanoic, lactic, gluconic, benzoic, oxalic, 2-hydroxy-3-methylbutyric, acetic, lauric, myristic and stearic acid and myo-inositol and mannose were selected as the most relevant metabolites in class separation.
Conclusion
The metabolomic signature of second trimester maternal serum from pregnancies affected by a fetal central nervous system anomaly is quantifiably different from that of a normal pregnancy. Maternal serum metabolomics is therefore a promising tool for the accurate and sensitive screening of such congenital defects. Moreover, the details of the most relevant metabolites and their respective biochemical pathways allow better understanding of the overall pathophysiology of affected pregnancies.
... In semi-lobar holoprosencephaly, the interhemispheric fissure and the falx cerebri are partially developed posteriorly, whereas the frontal lobes are fused. The corpus callosum is absent in the fused regions [1,3,9]. ...
One of the standard surgical approaches to lateral ventricular tumors involves interhemispheric dissection along the falx cerebri. The falx cerebri thus provides an important landmark in guiding the surgeon to the midline. Unrecognized absence of falx may lead to surgical complications. A child with tuberous sclerosis presented with refractory epilepsy and a lateral ventricular tumor. The tumor was excised by an interhemispheric trans-callosal approach. The midline falx cerebri was absent anteriorly, rendering the identification of midline difficult. The embryology of a deficient falx and its surgical implications are discussed in this short report.
Encephalocele is a mesodermal defect in the skull bones and duramater. Parietal encephalocele is a rare congenital anomaly of newborn
with variable prognostic value. The authors report a case of a very large inter parietal encephalocele with no associated other system
malformations. A midline inter parietal encephalocele is much rare, earlier reported cases were posterior parietal in location. Such cases
can be successfully operated upon with a very good outcome. A unique case of a 18 day neonate, with swelling over scalp was evaluated
by the neurosurgical team and the patient underwent neurosurgery. In planning the strategy for management of encephalocele, one
needs to take into consideration the site, size, contents, patency of CSF pathway, neurological status and other associated anomalies.
Inspite of such a big encephalocele in an atypical location, excision and repair gave excellent results.
In historical and many scientific papers of the 20th century double formation of eyes has been described as cyclopia, which develops as a variably marked fusion of both eye anlagen into a single eye in median position. In contrast with mythology, no cases were viable, as cyclopia is always accompanied by other severe deformities, such as cerebral defects and proboscis. For the first time a double eye on one side - a unilateral diplophthalmia - in a viable child born in Austria is presented after a reviewal of fundamentals of general and experimental embryology, cyclopia and unilateral synophthalmia. Unlike cases of cyclopia with two fused eyes from two anlagen in one single orbit, we found a total of three eyes from two anlagen in two orbits; a normally developed eye in the right orbit and a double eye in the left with no proboscis. In addition porencephaly, a double canine tooth, and a lateral branchial cyst were also present on the left side. An examination of this unique case partially corroberated the findings of experimental embryology as to the normal formation of the lens and brought to light new findings concerning the formation of the vitreous body and the retina, because in the extra left eye a hyaloid artery did not develop. There was only one optic nerve with a normal optic disc as a guiding structure for this artery in the normal left eye.
A case is reported of a 107 days old child with thoracolumbal meningomyelecele, dislocation of cerebellar tissue to the upper dorsal cervical segment of the spinal cord and agenesis of the resting cerebellum, arhinencephaly, extreme hydrocephalus, agenesis of the corpus callosi, agenesis of the septum pellucidi and lacunar skull. The theories of the evolution of the different malformations are discussed. The dislocation of the cerebellar tissue (Arnold-Chiari malformation) together with the arhinencephaly is regarded as a dysrhaphic equivalent. The agenesis of the corpus callosi and of the septum pellucidi are interpreted as being a consequence of arhinencephaly. The designation of Arnold-Chiari malformation should be used only in case of dislocated cerebellar tissue showing structural disorders and simultaneous developmental disturbances of the medulla oblongata, of the upper cervical segment and of the other parts of the spinal cord. The observed alterations corresponds the malformation complex described by Durand and Zunin with additional arhinencephaly, agenesis of the corpus callosi and Arnold-Chiari deformity. According to our opinion the Durand-Zunin syndrom is not an entity sui generis, but belongs to the series of dysrhaphic malformations ranging between the monosymptomatic types and the malformation complex described by us.
We describe a case of foreign body granuloma caused by lintene (cotton gauze), placed during microvascular decompression of the fifth nerve for trigeminal neuralgia. At presentation, the clinical and radiological findings were suggestive of a tumor. This is only the second case in the literature of a foreign body granuloma occurring owing to the placement of a lintene pledget during microvascular decompression.
We describe an 18-month-old male child presenting with delayed milestones. MRI revealed absent lateral and third ventricles associated with fusion of the posterior cerebral hemispheres.
