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Related Experiment Videos

Pena-Shokeir I syndrome: a comparative pathological study.

J Abe1, K Nemoto, Y Ohnishi

  • 1Department of Pathology, Niigata University School of Medicine, Japan.

The American Journal of the Medical Sciences
|February 1, 1989
PubMed
Summary

Pena-Shokeir I syndrome, a rare condition, was observed in a female neonate who experienced respiratory failure. Neuropathologic findings suggest hypoglossal nucleus hypoplasia may contribute to polyhydramnios by impairing fetal swallowing.

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Area of Science:

  • Neuropathology
  • Clinical Genetics
  • Neonatal Medicine

Background:

  • Pena-Shokeir I syndrome is a rare congenital disorder.
  • It is characterized by joint contractures, facial anomalies, and developmental delay.

Observation:

  • A female neonate diagnosed with Pena-Shokeir I syndrome presented with respiratory insufficiency and died shortly after birth.
  • Postmortem examination revealed significant pulmonary hypoplasia.
  • Microscopic analysis identified abnormalities in the hypoglossal nucleus and anterior horn cells of the spinal cord.

Findings:

  • Comparative study indicated hypoplasia of the hypoglossal nucleus as a potential component of Pena-Shokeir I syndrome.
  • Ectopic cross-striated muscle fibers and increased muscle spindles were observed in the tongue.

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  • These neuropathologic findings offer insights into the syndrome's pathogenesis.

    • Implications:

    • Hypoglossal nucleus hypoplasia is proposed as a cause of polyhydramnios due to impaired fetal swallowing.
    • This study enhances understanding of the complex etiology of Pena-Shokeir I syndrome.
    • Further research into the neuropathologic basis of congenital disorders is warranted.