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August 31, 2026Brain and Development Case ReportsOpen Access

Congenital central hypoventilation syndrome in a neonate presenting as nonketotic hyperglycinemia; a case report and literature review

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Authors

MAMohammed Alra’eSDShima DarwishWHWasan Harashe

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Overview

Case report demonstrates congenital central hypoventilation syndrome mimicking nonketotic hyperglycinemia in a neonate, highlighting diagnostic challenges from overlapping metabolic presentations.

Key Points

  • To describe an atypical neonatal presentation of congenital central hypoventilation syndrome that initially masqueraded as nonketotic hyperglycinemia.
  • Clinical and metabolic evaluation of a full-term female neonate presenting with recurrent apnea and desaturation.
  • Diagnostic confirmation using targeted PHOX2B gene mutation testing following preliminary clinical misdiagnoses.
  • The neonate was initially misdiagnosed with seizures and nonketotic hyperglycinemia before genetic testing detected a PHOX2B mutation that confirmed congenital central hypoventilation syndrome.
  • The infant remained ventilator-dependent until passing away at 5 months of age due to tracheostomy-related complications.

Cite This Study

Alra’e et al. (2026) studied this question.

synapsesocial.com/papers/6a954238f20e493292a745a4https://doi.org/10.1016/j.bdcasr.2026.100157
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