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Choroido-cerebral calcification syndrome with retardation
B Singh1, A Jamil, S A al-Shahwan
1Department of Paediatric Neurology, Riyadh Armed Forces Hospital, Saudi Arabia.
Neurology
|November 1, 1993
Summary
This study describes a rare syndrome in a family featuring intellectual disability and brain calcification. Low cerebrospinal fluid (CSF) phosphate levels may play a role in its development.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- A rare genetic syndrome presents with intellectual disability and calcification of the choroid plexus.
- Understanding the underlying pathophysiology is crucial for diagnosis and potential treatments.
Observation:
- A sibship presented with a distinct syndrome: mental retardation, dense lateral ventricular choroid plexus calcification, and elevated cerebrospinal fluid (CSF) protein.
- Neurophysiological and endocrine evaluations, including parathormone and general electrolyte levels, were unremarkable.
Findings:
- While serum and CSF calcium, magnesium, and other electrolytes were normal, a reduced CSF/serum phosphate ratio was observed.
- This specific electrolyte imbalance suggests a potential role for phosphate transport or metabolism in the syndrome's pathogenesis.
Implications:
- The findings highlight a potential link between phosphate homeostasis and this rare neurological syndrome.
- Further research into phosphate transport mechanisms may elucidate the etiology and inform therapeutic strategies.