congenital brain malformation
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2022 ◽  
Vol 30 (3) ◽  
pp. 95-99
Author(s):  
Karina Sarango-Amay ◽  
Alberth Muñoz-Gualan

Schizencephaly is a rare congenital brain malformation characterized by clefts in the cerebral cortex, it is classified in Type I (open lip) and Type II (close-lip). Patients with schizencephaly present seizures, hydrocephalus, motor and mental deficits. Ultrasound is used for in-utero and newborns patients’ diagnosis, and MRI or CT for already born patients. The management of schizencephaly is conservative, with rehabilitation in motor or mental deficits, medication or surgery for seizures and shunt in hydrocephalus with increased intracranial pressure. In the literature, only few giant bilateral cases have been reported. We report a case of giant bilateral open lip schizencephaly, in a 10-day old male patient, presenting with mild hypotonia and no seizures. This case is rare because the relatively benign features compared to other reported cases.


Author(s):  
Khushbu Meshram ◽  
Prerana Sakharwade ◽  
Sonali Kolhekar ◽  
Pooja Kasturkar ◽  
Shital Sakharkar

Introduction: Dandy Walker Syndrome is a congenital brain malformation that affects the cerebellum and the fluid filled areas that accompany it. The cerebellum is a part of the brain that deals with movement coordination as well as cognition and behavior. Case Presentation: The male patient 8 year old who was apparently admitted in A.V.B.R.H on 18/8/2019 is diagnosed with a known case of dandy walker malformation and came with the complaints of headache since 4 days, fever since 3 days, vomiting since 5 days and 3 episodes of seizures. All the necessary blood investigations has been done. The CT scan as well as MRI reports has shown that large posterior fossa cyst with open communication with fourth ventricle with hypoplastic left cerebellar hemisphere and no visualized cerebellar vermis. Before taking this case, information was given to the patients and their relatives and Informed consent was obtained from patient as well as relatives. Therapeutic Intervention: The patient was treated with NSAIDS, antibiotics, anticonvulsant, antiemetic and antacid and physical therapy to help keep muscle strength and flexibility The patient underwent VP shunt head circumference assessed regularly, vital signs hourly, provided vitamins enriched diet as per dietician’s order assisted dressing for drainage and physical therapy. Conclusion: The patient was admitted in A.V.B.R.H in a critical condition with the diagnosis of dandy walker syndrome, after providing the required treatment by the health care team members of hospital the patient condition was improved and satisfactory.


2018 ◽  
Vol 40 (6) ◽  
pp. 480-483 ◽  
Author(s):  
Daniel Bamborschke ◽  
Matthias Pergande ◽  
Kerstin Becker ◽  
Friederike Koerber ◽  
Jörg Dötsch ◽  
...  

2017 ◽  
Author(s):  
Andrew DiStasio ◽  
Ashley Driver ◽  
Kristen Sund ◽  
Milene Donlin ◽  
Ranjith M. Muraleedharan ◽  
...  

AbstractPrimary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in an otherwise unaffected family. Exome sequencing identified an autosomal recessive mutation leading to an amino acid substitution in a WD40 domain of the highly conserved Coatomer Protein Complex, Subunit Beta 2 (COPB2). To study the role of Copb2 in neural development, we utilized genome editing technology to generate an allelic series in the mouse. Two independent null alleles revealed that Copb2 is essential for early stages of embryogenesis. Mice homozygous for the patient variant (Copb2R254C/R254C) appear to have a grossly normal phenotype, likely due to differences in corticogenesis between the two species. Strikingly, mice heterozygous for the patient mutation and a null allele (Copb2R254C/Znf) show a severe perinatal phenotype including low neonatal weight, significantly increased apoptosis in the brain, and death within the first week of life. Immunostaining of the Copb2R254C/Znf brain revealed a reduction in layer V (CTIP2+) neurons, while the overall cell density of the cortex is unchanged. Moreover, disruption of Copb2 in mouse neurospheres resulted in reduced proliferation. These results identify a general requirement for COPB2 in embryogenesis and a specific role in corticogenesis. We further demonstrate the utility of CRISPR-Cas9 generated mouse models in the study of potential pathogenicity of variants of potential clinical interest.


2016 ◽  
Vol 70 (3) ◽  
pp. 158-162
Author(s):  
Vladimir Mirchevski ◽  
Elizabeta Zogovska ◽  
Aleksandar Chaparoski ◽  
Milenko Kostov ◽  
Michun Micunovic ◽  
...  

Abstract Introduction. Dandy-Walker syndrome is a congenital brain malformation involving cerebellum with partial and complete vermian agenesis, enlargement of the fourth ventricle and surrounding fluid spaces, cyst formation in posterior cranial fosse pushing tentorium upward [1,2]. Hydrocephalus or an increase in the pressure of the fluid spaces may also be present or other malformation as corpus calosum hypoplasia or agenesia, occipital encephalocele, malformation of the heart, face, limbs fingers and toes [3-5]. The symptoms often occur in early infancy and include slow motor development and progressive enlargement of the skull. The diagnostic is done by ultrasound, CT and MRI [6-11]. The treatment of this syndrome may be complex and sometimes includes various experts such as pediatrician, pediatric neurosurgeon, physiatrist, psychologist, sociologist or others. The treatment consists of treating the associated problems such as hydrocephaly [12-15]. Prognosis of Dandy-Walker syndrome is variable and the morbidity and mortality depends on severity of the syndrome and associated malformations [16]. Aim. The aim of this paper was to demonstrate how severe spontaneous evolution of Dandy-Walker syndrome may be expressed and the problems and dilemmas which may appear related to its treatment. Case report. A six-year-old boy was referred to the neurosurgeon because of the excessive growth of the skull in anteroposterior axis caused by a wide base occipital encephalocele. Although the psychological development was near the low limit of the IQ, the enormous head had not allowed verticalization of the child and further progress of his psychomotor development. The head was so heavy that could not be supported by the child’s neck. Surgical procedure. We performed a cranial skull reduction with primary cranioplasty assisted by a plastic surgeon and Pudentz shunt procedure. Result. The follow-up period lasted two years. The child started to walk, hypotonia and Babinski signs disappeared, communication and his IQ improved. The esthetic results are quite acceptable allowing him better development. Conclusion. The early recognition of anomalies such as Dandy-Walker syndrome with occipital encephalocele using ultrasound may suggest interruption of the pregnancy on time [6-9]. However, the right diagnostic procedure for detecting deformities of the newborn and infant’s head at birth is MRI, and the adequate surgical treatment can prevent abnormal and excessive growth of the skull and disorders in the psychomotor development during child’s growth. A multidisciplinary approach may prevent new disabled individuals in the society.


2016 ◽  
Vol 113 (40) ◽  
pp. E5866-E5875 ◽  
Author(s):  
Hanna Tukachinsky ◽  
Kostadin Petrov ◽  
Miyako Watanabe ◽  
Adrian Salic

The Hedgehog cell–cell signaling pathway is crucial for animal development, and its misregulation is implicated in numerous birth defects and cancers. In unstimulated cells, pathway activity is inhibited by the tumor suppressor membrane protein, Patched. Hedgehog signaling is triggered by the secreted Hedgehog ligand, which binds and inhibits Patched, thus setting in motion the downstream events in signal transduction. Despite its critical importance, the mechanism by which Hedgehog antagonizes Patched has remained unknown. Here, we show that vertebrate Patched1 inhibition is caused by direct, palmitate-dependent interaction with the Sonic Hedgehog ligand. We find that a short palmitoylated N-terminal fragment of Sonic Hedgehog binds Patched1 and, strikingly, is sufficient to inhibit it and to activate signaling. The rest of Sonic Hedgehog confers high-affinity Patched1 binding and internalization through a distinct binding site, but, surprisingly, it is not absolutely required for signaling. The palmitate-dependent interaction with Patched1 is specifically impaired in a Sonic Hedgehog mutant causing human holoprosencephaly, the most frequent congenital brain malformation, explaining its drastically reduced potency. The palmitate-dependent interaction is also abolished in constitutively inhibited Patched1 point mutants causing the Gorlin cancer syndrome, suggesting that they might adopt a conformation distinct from the wild type. Our data demonstrate that Sonic Hedgehog signals via the palmitate-dependent arm of a two-pronged contact with Patched1. Furthermore, our results suggest that, during Hedgehog signaling, ligand binding inhibits Patched by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 mutants.


2011 ◽  
Vol 56 (No. 6) ◽  
pp. 302-306
Author(s):  
K. Lee ◽  
H. Furuoka ◽  
N. Sasaki ◽  
M. Ishii ◽  
H. Inokuma ◽  
...  

We describe the case of a nine-day-old female Holstein calf which had cheiloschisis, a moderate dome-shaped head, ataxia and opisthotonus since birth. No significant findings except the dome-shaped head were observed on survey radiography of the skull. Computed tomography (CT) images showed bilateral lateral ventriculomegaly, cerebellar hypoplasia and a cyst-like lesion communicating with the right lateral ventricle. Post-mortem examination revealed a cerebral defect in the frontoparietal lobe, which communicated with the right lateral ventricle, and cerebellar hypoplasia. CT provided a characteristic finding of porencephaly and was helpful for diagnosing the accompanying anomalies. We suggest that porencephaly should be included as a specific anomaly in the differential diagnosis of congenital brain malformation.  


2007 ◽  
Vol 23 (11) ◽  
pp. 1337-1340 ◽  
Author(s):  
Hitoshi Tsugu ◽  
Shinya Oshiro ◽  
Hiroshi Kawaguchi ◽  
Takeo Fukushima ◽  
Kazuki Nabeshima ◽  
...  

Neurocase ◽  
2005 ◽  
Vol 11 (6) ◽  
pp. 463-474 ◽  
Author(s):  
Giuseppe Iaria ◽  
Chiara Incoccia ◽  
Laura Piccardi ◽  
Daniele Nico ◽  
Umberto Sabatini ◽  
...  

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