[Mucolipidoses type IV in a patient with mapuche ancestry]

Area of Science:

• Genetics and rare diseases
• Pediatric neurology
• Medical diagnostics

Background:

• Cerebral palsy (CP) is a common diagnosis in children with motor and cognitive impairments.
• Mucopolysaccharidoses type IV (ML-IV) is a rare lysosomal storage disorder.
• ML-IV is typically associated with individuals of Ashkenazi Jewish descent.

Observation:

• A 7-year-old girl with a history of CP experienced neurological deterioration and visual impairment.
• Neurological examination revealed ataxic CP with progressive optic atrophy.
• Neuroimaging showed progressive intracerebral atrophy.

Findings:

• Intracytoplasmic inclusions in conjunctiva and skin biopsies were observed via electron microscopy.
• These findings were consistent with Mucopolysaccharidoses type IV (ML-IV).
• The patient had Mapuche ancestry, challenging the typical population association for ML-IV.

Implications:

• ML-IV should be considered in the differential diagnosis of cerebral palsy, especially with acquired skill loss and visual impairment.
• Electron microscopy of skin or conjunctiva is a valuable diagnostic tool for ML-IV.
• The diagnostic suspicion for ML-IV should extend beyond the Ashkenazi Jewish population.