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Nonabsorptive hydrocephalus associated with nephropathic cystinosis
Neurology
|December 1, 1982
Summary
Nephropathic cystinosis can cause severe neurological issues like seizures and coma due to cystine buildup in the brain. Ventriculoperitoneal shunt placement improved symptoms in a child with this rare condition.
Area of Science:
- Neurology
- Pediatrics
- Metabolic Disorders
Background:
- Nephropathic cystinosis is a rare inherited metabolic disorder characterized by lysosomal accumulation of cystine.
- Neurological complications, including seizures and cognitive decline, can occur in nephropathic cystinosis.
Observation:
- A child with nephropathic cystinosis presented with seizures and coma, exhibiting enlarged sulci and ventricles on CT.
- Despite renal transplantation and hypothyroidism treatment, neurological recovery was poor, with persistent hydrocephalus and abnormal isotope retention observed later.
- Biopsy confirmed anisotropic crystals consistent with cystine in the arachnoid and cerebral cortex.
Findings:
- The patient developed nonabsorptive hydrocephalus, potentially caused by cystine deposition in the meninges.
- Ventriculoperitoneal shunt placement led to improved intellectual function, resolution of pyramidal signs, and seizure control.
Implications:
- This case highlights the potential for cystine deposition to cause nonabsorptive hydrocephalus in nephropathic cystinosis.
- Early recognition and intervention, including cerebrospinal fluid diversion, may be crucial for managing neurological complications in affected children.