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 ◽  
...  
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.  


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.


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 ◽  
...  

NeuroImage ◽  
2001 ◽  
Vol 13 (6) ◽  
pp. 843 ◽  
Author(s):  
Martin Staudt ◽  
Wolfgang Grodd ◽  
Gerhard Niemann ◽  
Inge Kraegeloh-Mann

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