A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation

2018 ◽  
Vol 40 (6) ◽  
pp. 480-483 ◽  
Author(s):  
Daniel Bamborschke ◽  
Matthias Pergande ◽  
Kerstin Becker ◽  
Friederike Koerber ◽  
Jörg Dötsch ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Brain Malformation ◽  
Sphingosine 1 Phosphate ◽  
Congenital Brain Malformation

scholarly journals  Congenital porencephaly with cerebellar hypoplasia in a Holstein calf: a case report

2011 ◽  
Vol 56 (No. 6) ◽  
pp. 302-306
Author(s):  
K. Lee ◽  
H. Furuoka ◽  
N. Sasaki ◽  
M. Ishii ◽  
H. Inokuma ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Differential Diagnosis ◽  
Case Report ◽  
Lateral Ventricle ◽  
Cerebellar Hypoplasia ◽  
Post Mortem ◽  
Brain Malformation ◽  
Characteristic Finding ◽  
Congenital Brain Malformation ◽  
The Right

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.  

Esquizencefalia bilateral gigante de labio abierto

2022 ◽  
Vol 30 (3) ◽  
pp. 95-99
Author(s):  
Karina Sarango-Amay ◽  
Alberth Muñoz-Gualan
Keyword(s):  
Cerebral Cortex ◽  
Intracranial Pressure ◽  
Male Patient ◽  
In Utero ◽  
Type I ◽  
Type Ii ◽  
Brain Malformation ◽  
Increased Intracranial Pressure ◽  
Congenital Brain Malformation

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.

Nonfunctioning endocrine tumor arising from intracranial ectopic pancreas associated with congenital brain malformation

2007 ◽  
Vol 23 (11) ◽  
pp. 1337-1340 ◽  
Author(s):  
Hitoshi Tsugu ◽  
Shinya Oshiro ◽  
Hiroshi Kawaguchi ◽  
Takeo Fukushima ◽  
Kazuki Nabeshima ◽  
...  
Keyword(s):  
Endocrine Tumor ◽  
Ectopic Pancreas ◽  
Brain Malformation ◽  
Congenital Brain Malformation ◽  
Nonfunctioning Endocrine Tumor

Lack of orientation due to a congenital brain malformation: A case study

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

Functional MRI in congenital brain malformation: BOLD response in dysgenic cortices during hand movements

NeuroImage ◽  
2001 ◽  
Vol 13 (6) ◽  
pp. 843 ◽  
Author(s):  
Martin Staudt ◽  
Wolfgang Grodd ◽  
Gerhard Niemann ◽  
Inge Kraegeloh-Mann
Keyword(s):  
Functional Mri ◽  
Hand Movements ◽  
Bold Response ◽  
Brain Malformation ◽  
Congenital Brain Malformation

Author response for "Sphingosine 1‐phosphate/microRNA‐1249‐5p/MCP‐1 axis is involved in macrophage‐associated inflammation in fatty liver injury in mice"

2020 ◽  
Author(s):  
Xiaofang Ji ◽  
Le Yang ◽  
Zhi Zhang ◽  
Kai Zhang ◽  
Na Chang ◽  
...  
Keyword(s):  
Liver Injury ◽  
Fatty Liver ◽  
Author Response ◽  
Sphingosine 1 Phosphate

Sphingosine 1-phosphate

AccessScience ◽  
2015 ◽  
Keyword(s):  
Sphingosine 1 Phosphate
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