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[Growing septum pellucidum cyst in infancy]
1Kinderklinik u. Kinderradiologie der Städt, Krankenanstalten Esslingen.
Insights
An expanding cyst of the septum pellucidum was observed in a baby with developmental delays. Despite drainage, symptoms persisted, leading to a tentative diagnosis of Alexander disease (Morbus Alexander).
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Genetic Metabolic Disorders
Background:
- Expanding cysts of the septum pellucidum can present diagnostic challenges in infants.
- Developmental delays, including epileptic convulsions and psychomotor retardation, necessitate thorough investigation.
Observation:
- A case of a baby with an incidentally discovered, rapidly enlarging cyst of the septum pellucidum is presented.
- Cranial ultrasonography over ten months documented significant cyst expansion.
- Clinical symptoms did not improve following cyst drainage, indicating an underlying, unresolved pathology.
Findings:
- Magnetic Resonance Imaging (MRT) with Spectroscopy suggested Alexander disease (Morbus Alexander).
- A definitive diagnosis was not obtained due to the mother's refusal of a brain biopsy, neither during life nor postmortem.
- The child passed away at 20 months of age.
Implications:
- This case highlights the diagnostic difficulties in differentiating cystic lesions from other neurodevelopmental disorders.
- It underscores the importance of advanced neuroimaging techniques like MRT with Spectroscopy in pediatric neurology.
- The challenges in obtaining definitive diagnoses in pediatric cases due to ethical and parental decisions are noted.
Abstract:
We report a baby's development with expanding cyst of the septum pellucidum. It was detected accidentally during diagnostic evaluation of epileptic convulsions and psychomotoric retardation. The dramatic increasing of the cyst was followed by cranial ultrasonography for ten months. The progression of clinical symptoms couldn't be explained because after drainage of the cyst, no improvement took place. MRT with Spectroscopy lead to the tentative diagnosis, Morbus Alexander. This couldn't be proved because no biopsy of the brain was performed against the decision of the child's mother, nor postmortal (the child died at 20 months).