Aicardi Syndrome in a 8 month Old Female Child

International Journal of Health Sciences and Pharmacy ◽

10.47992/ijhsp.2581.6411.0039 ◽

2019 ◽

pp. 18-20

Author(s):

Edwin Dias

Keyword(s):

Corpus Callosum ◽

Antiepileptic Drug ◽

Female Child ◽

Infantile Spasms ◽

Agenesis Of Corpus Callosum ◽

Aicardi Syndrome

Aicardi syndrome (AS) is a triad of infantile spasms, chorioretinal ‘lacunae’ and agenesis of corpus callosum. The exact frequency of this condition is not known. Here we provide a description of an 8 month old child with Aircardi syndrome. Treated with multiple Antiepileptic drug.

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Aicardi Syndrome in One Dizygotic Twin

PEDIATRICS ◽

10.1542/peds.76.3.450 ◽

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.

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Transsellar trans-sphenoidal encephalocele with cleft lip, cleft palate and agenesis of corpus callosum

Radiology Case Reports ◽

10.1016/j.radcr.2021.05.042 ◽

2021 ◽

Vol 16 (8) ◽

pp. 2211-2213

Author(s):

Prajina Pradhan ◽

Subash Phuyal ◽

Ritesh Lamsal ◽

Pooja Agrawal ◽

Raju Paudel

Keyword(s):

Corpus Callosum ◽

Cleft Palate ◽

Cleft Lip ◽

Agenesis Of Corpus Callosum

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A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

Child Neurology Open ◽

10.1177/2329048x211006511 ◽

2021 ◽

Vol 8 ◽

pp. 2329048X2110065

Author(s):

Nesrin Şenbil ◽

Zeynep Arslan ◽

Derya Beyza Sayın Kocakap ◽

Yasemin Bilgili

Keyword(s):

Corpus Callosum ◽

Autosomal Dominant ◽

Genetic Disorder ◽

Gene Mutations ◽

Hirschsprung Disease ◽

Agenesis Of Corpus Callosum ◽

Whole Exome ◽

Congenital Cardiac Anomalies ◽

History Of ◽

Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

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