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Unilateral somatic and intracranial hypoplasia
I Pascual-Castroviejo1, S I Pascual-Pascual, J Viaño
1Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain.
Insights
This study details a rare developmental malformation causing left-sided body hypoplasia in a female patient. Findings include brain abnormalities, limb defects, and developmental delays, suggesting a novel congenital condition.
Area of Science:
- Neurology
- Developmental Biology
- Medical Genetics
Background:
- This case report examines a rare congenital condition with complex symptomatology.
- The patient was studied from childhood to adulthood, documenting progressive and static clinical features.
Observation:
- The patient presented with anomalies affecting ectodermal and mesodermal structures.
- Observed defects included right cerebral and cerebellar hypoplasia, polymicrogyria, corpus callosum agenesis, micro-ophthalmia, and limb hypoplasia.
- Left hemifacial hypoplasia and bilateral acral alterations were also noted, alongside developmental delays and epilepsy.
Findings:
- Magnetic Resonance (MR) imaging confirmed right cerebral and cerebellar hypoplasia, polymicrogyria, corpus callosum agenesis, and micro-ophthalmia.
- The patient lacked orbital cysts and cutaneous abnormalities.
- The constellation of symptoms points to a novel developmental malformation characterized by hemibody hypoplasia.
Implications:
- This case expands the understanding of rare developmental disorders.
- It highlights the importance of comprehensive evaluation for complex congenital anomalies.
- Further research may elucidate the genetic or environmental factors underlying this unique condition.
Abstract:
We report on clinical and MR findings in a woman with a peculiar disease. She was studied from childhood to adulthood. She showed several anomalies affecting structures of ectodermal and mesodermal origin. Specific defects included right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of the corpus callosum, right micro-ophthalmia and cataract, right breast hypoplasia, right upper and lower extremity hypoplasia, bilateral acral alterations affecting especially the middle phalanges, left hemifacial hypoplasia (probably secondary to the severe contralateral cerebral hemisphere lesion), mental retardation and partial epilepsy. MR disclosed right cerebral and cerebellar hypoplasia, right cerebral cortical polymicrogyria, agenesis of corpus callosum and right micro-ophthalmia. She did not exhibit either orbital cysts or cutaneous abnormalities. The complex symptomatology of unknown origin presented by this patient suggests a new developmental malformation consisting in hypoplasia of a complete hemibody.