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Aicardi syndrome with holoprosencephaly and cleft lip and palate
N Sato1, T Matsuishi, H Utsunomiya
1Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Insights
Aicardi syndrome, a rare genetic disorder, typically presents with infantile spasms and brain abnormalities. This case highlights a unique patient with Aicardi syndrome, cleft palate, and holoprosencephaly.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Aicardi syndrome is a rare neurological disorder characterized by a specific triad of symptoms.
- Key features include infantile spasms, agenesis of the corpus callosum, and chorioretinopathy.
- The syndrome primarily affects females and is associated with severe developmental delays.
Observation:
- A 14-day-old Japanese female presented with classic Aicardi syndrome features.
- The patient exhibited infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, and EEG abnormalities.
- Additionally, she presented with a cleft lip and palate and a severe brain malformation.
Findings:
- This patient represents the second reported case of Aicardi syndrome with associated cleft lip and posterior palate.
- Crucially, this is the first reported case of Aicardi syndrome with the additional finding of semilobar-type holoprosencephaly.
- The combination of these anomalies suggests a potential overlap or shared etiology in developmental pathways.
Implications:
- This case expands the known phenotypic spectrum of Aicardi syndrome.
- Understanding this rare combination may offer insights into the underlying genetic and developmental mechanisms.
- Further research is warranted to explore the genetic basis and potential management strategies for such complex presentations.
Abstract:
This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation. Furthermore, she had a cleft lip and palate and a severe brain malformation due to semilobar-type holoprosencephaly. This patient is the second reported with Aicardi syndrome and associated cleft lip and posterior palate; she is the first patient with an additional severe brain malformation due to semilobar-type holoprosencephaly.