Neonatal Presentation of Suspected Vici Syndrome: A Case Report with Multisystem Features.
Kaoutar Danaoui, Meryem Majdoul, Fatima-Ezzahra Tahiri et al.
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Case in brief
A newborn born to consanguineous parents, with a sibling who had died of an unspecified cause, presented with hypopigmentation, generalized hypotonia, recurrent severe infections, developmental delay, and cleft palate. Brain MRI showed complete agenesis of the corpus callosum, raising suspicion for Vici syndrome. The infant also developed functional renal failure during severe dehydration; renal function recovered completely after fluid resuscitation. Molecular testing for suspected Vici syndrome was still in progress, so the diagnosis was not genetically confirmed.
What made this case unusual
Transient functional renal failure during severe dehydration was noted as a possible additional feature in a case suspected to represent Vici syndrome; genetic confirmation was pending.
Diagnostic / clinical pearl
The combination of corpus callosum agenesis, hypopigmentation, and recurrent infections in a neonate—particularly with consanguineous parents—should prompt consideration of Vici syndrome.
Why it matters
Recognizing the suspected syndrome can support appropriate clinical management and genetic counseling, although molecular testing was not yet complete in this case.