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Craniofacial dysmorphism and opsoclonus.

J R Coppeto, M L Monteiro

    Ophthalmic Paediatrics and Genetics
    |December 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    This case study details a patient with craniofacial dysmorphism and opsoclonus, a rare neurological disorder. The condition, linked to delayed brainstem inhibitory cell maturation, resolved by 18 months.

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    Area of Science:

    • Neurology
    • Pediatrics
    • Genetics

    Background:

    • Opsoclonus is a rare neurological disorder characterized by involuntary, rapid, conjugate eye movements.
    • Craniofacial dysmorphism encompasses a range of congenital anomalies affecting the skull and face.
    • The co-occurrence of opsoclonus and craniofacial anomalies presents a diagnostic and etiological challenge.

    Observation:

    • A neonate presented with significant craniofacial dysmorphism and the onset of opsoclonus.
    • The opsoclonus symptoms were noted from the perinatal period and gradually subsided by 18 months of age.
    • A review of prior literature revealed a limited number of cases associating opsoclonus with cranial and facial abnormalities.

    Findings:

    • The authors propose that the opsoclonus in this case was associated with delayed maturation of inhibitory cells within the brainstem.

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  • This hypothesis suggests a potential neurodevelopmental basis for opsoclonus in conjunction with craniofacial anomalies.
  • The case highlights the variability in presentation and resolution of opsoclonus.
  • Implications:

    • Understanding the neurobiological underpinnings of opsoclonus in dysmorphic syndromes can aid in diagnosis and management.
    • Further research into brainstem development and its relation to ocular motor control is warranted.
    • This case contributes to the limited case reports on opsoclonus associated with congenital craniofacial abnormalities.