scholarly journals Aicardi syndrome--the elusive mild case.

1994 ◽  
Vol 78 (6) ◽  
pp. 494-496 ◽  
Author(s):  
A V Menezes ◽  
R W Enzenauer ◽  
J R Buncic
Keyword(s):  
Mild Case ◽  
Aicardi Syndrome

A severe case of Aicardi syndrome with triple X

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
V Busch ◽  
K Rüdisser ◽  
A Hack ◽  
B Pascher ◽  
G Uyanik ◽  
...  
Keyword(s):  
Severe Case ◽  
Aicardi Syndrome

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Clinical Report ◽  
Review Of The Literature ◽  
Aicardi Syndrome ◽  
Hepatic Adenomatosis

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG

2004 ◽  
Vol 13 (4) ◽  
pp. 257-260 ◽  
Author(s):  
Arpad Matlary ◽  
Trine Prescott ◽  
Bj??rn Tvedt ◽  
Knut Lindberg ◽  
Andres Server ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Mild Developmental Delay ◽  
Aicardi Syndrome

scholarly journals Presurgical treatment of cleft lip and palate in Aicardi syndrome: A case report

2008 ◽  
Vol 18 (2) ◽  
pp. 204-209
Author(s):  
Tsutomu Iwamoto ◽  
Satoshi Fukumoto ◽  
Aya Yamada ◽  
Makiko Arakaki ◽  
Kazuaki Nonaka
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Aicardi Syndrome

Aicardi Syndrome

2003 ◽  
Vol 60 (10) ◽  
pp. 1471 ◽  
Author(s):  
Tena Rosser
Keyword(s):  
Aicardi Syndrome

Persistent Hyperplastic Primary Vitreous in Association With Aicardi Syndrome

1995 ◽  
Vol 32 (1) ◽  
pp. 52-54
Author(s):  
David J Weissgold ◽  
Albert M Maguire ◽  
Neil S Kalin ◽  
Richard W Hertle
Keyword(s):  
Persistent Hyperplastic Primary Vitreous ◽  
Aicardi Syndrome

Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 450-453
Author(s):  
William H. Constad ◽  
Rudolph S. Wagner ◽  
Anthony R. Caputo
Keyword(s):  
Corpus Callosum ◽  
Strong Evidence ◽  
Infantile Spasms ◽  
Unaffected Sibling ◽  
Early Age ◽  
Mutational Event ◽  
Dizygotic Twin ◽  
First Case ◽  
Vertebral Anomalies ◽  
Aicardi Syndrome

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.

Early treatment of Aicardi syndrome with vigabatrin can improve outcome

Neurology ◽  
2004 ◽  
Vol 63 (9) ◽  
pp. 1756-1757 ◽  
Author(s):  
V. Chau ◽  
G. Karvelas ◽  
P. Jacob ◽  
L. Carmant
Keyword(s):  
Early Treatment ◽  
Improve Outcome ◽  
Aicardi Syndrome

scholarly journals Basal ganglia dysmorphism in patients with Aicardi syndrome

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011237
Author(s):  
Silvia Masnada ◽  
Anna Pichiecchio ◽  
Manuela Formica ◽  
Filippo Arrigoni ◽  
Paola Borrelli ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Basal Ganglia ◽  
Clinical Outcome ◽  
Brain Imaging ◽  
Correct Diagnosis ◽  
Classification Systems ◽  
Permanent Disability ◽  
Long Term Outcome ◽  
Aicardi Syndrome

ObjectiveAiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed.MethodsOnly patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed.ResultsPatients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56% of our patients. Statistical analysis revealed correlations between MRI, EEG at onset, and clinical outcome. On brain imaging, 100% of the patients displayed corpus callosum malformations, 98% cortical dysplasia and nodular heterotopias, and 96.36% intracranial cysts (with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63% of cases) should also be considered a common feature in AIC, our study highlighted the presence (in 76.36%) of basal ganglia dysmorphisms (never previously reported).ConclusionThe AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome.Classification of evidenceThis study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes.

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