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[Growing septum pellucidum cyst in infancy]
1Kinderklinik u. Kinderradiologie der Städt, Krankenanstalten Esslingen.
Klinische Padiatrie
|May 1, 1995
Summary
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.