Case Report
Volume: 5 | Issue: 8 | Published: Aug 01, 2021 | Pages: 226 - 229 | DOI: 10.24911/ejmcr/173-1605461194
Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome
Authors:
Fatima Rauf
, Fatima Rauf
, Sidra Rauf
Article Info
Authors
Fatima Rauf
Post-graduate resident, Department of Pediatrics, Benazir Bhutto Hospital, Rawalpindi, Pakistan
Sidra Rauf
Federal Medical and Dental College, Islamabad, Pakistan.
Publication History
Received: November 16, 2020
Revised: April 18, 2021
Accepted: May 13, 2021
Published: August 01, 2021
Abstract
Background: Vici syndrome is a rare, autosomal recessive multisystem disorder, first described in 1988 by Dionisi-Vici. This syndrome is characterized by corpus callosum agenesis, oculocutaneous hypopigmentation, cataracts, immunodeficiency, and cardiomyopathy with additional variable multisystem manifestations. Case Presentation: We present a case of a 2-month-old infant, born preterm via Spontaneous vaginal delivery (SVD). He presented with fever, fits, and developmental delay. His weight and head circumference were below the third percentile for age and sex. In addition, he had hypopigmented skin and hair, a long philtrum, micrognathia, and high-arched palate. He had generalized hypotonia and hyporeflexia and his eyes showed horizontal nystagmus. His brain magnetic resonance imaging showed agenesis of corpus callosum, colpocephaly, and periventricular necrosis of white matter. He was admitted as a case of Vici syndrome and was treated for infections and seizures. He presented to emergency afterward as well for sepsis and eventually died of cardiopulmonary arrest at an age of 6 months. Conclusion: Vici syndrome is a rare disease and around 80 cases have been reported so far. This is a first reported case in Pakistan. It has variable presentation but agenesis of corpus callosum, recurrent infections, microcephaly, cardiomyopathy, cataracts, seizures, developmental delay, and hypopigmentation remain the most common features.
Keywords: Case report, Vici syndrome, agenesis of corpus callosum, hypopigmentation, developmental delay, microcephaly, green
Pubmed Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. 2021; 01 (August 2021): 226-229. doi:10.24911/ejmcr/173-1605461194
Web Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. https://ejmcr.com/articles/1294 [Access: December 25, 2024]. doi:10.24911/ejmcr/173-1605461194
AMA (American Medical Association) Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. 2021; 01 (August 2021): 226-229. doi:10.24911/ejmcr/173-1605461194
Vancouver/ICMJE Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. (2021), [cited December 25, 2024]; 01 (August 2021): 226-229. doi:10.24911/ejmcr/173-1605461194
Harvard Style
Fatima Rauf, Fatima Rauf, Sidra Rauf (2021) Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR, 01 (August 2021): 226-229. doi:10.24911/ejmcr/173-1605461194
Chicago Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. "Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome." 01 (2021), 226-229. doi:10.24911/ejmcr/173-1605461194
MLA (The Modern Language Association) Style
Fatima Rauf, Fatima Rauf, Sidra Rauf. "Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome." 01.August 2021 (2021), 226-229. Print. doi:10.24911/ejmcr/173-1605461194
APA (American Psychological Association) Style
Fatima Rauf, Fatima Rauf, Sidra Rauf (2021) Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. , 01 (August 2021), 226-229. doi:10.24911/ejmcr/173-1605461194