Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome
Authors: Fatima Rauf, Mansoor-ul-Haq, Sidra Rauf
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.
Authors
Correspondence to:
Fatima Rauf, Rawalpindi Medical University, Rawalpindi, Pakistan fatimarauf005@gmail.com
Publication history:
Received 16 Nov 2020
Revised 18 Apr 2021
Accepted 13 May 2021
Published online 01 Aug 2021
Published in print 28 Aug 2021
Rauf F, Mansoor-ul-Haq , Rauf S. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. 2021; 5(8): 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf F, Mansoor-ul-Haq , Rauf S. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. https://www.ejmcr.com/?mno=1876 [Access: March 28, 2024]. doi:
10.24911/ejmcr/173-1605461194
Rauf F, Mansoor-ul-Haq , Rauf S. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. 2021; 5(8): 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf F, Mansoor-ul-Haq , Rauf S. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR. (2021), [cited March 28, 2024]; 5(8): 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf, F., Mansoor-ul-Haq, . & Rauf, . S. (2021) Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. EJMCR, 5 (8), 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf, Fatima, Mansoor-ul-Haq, and Sidra Rauf. 2021. Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. European Journal of Medical Case Reports, 5 (8), 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf, Fatima, Mansoor-ul-Haq, and Sidra Rauf. "Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome." European Journal of Medical Case Reports 5 (2021), 226-229. doi:
10.24911/ejmcr/173-1605461194
Rauf, Fatima, Mansoor-ul-Haq, and Sidra Rauf. "Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome." European Journal of Medical Case Reports 5.8 (2021), 226-229. Print. doi:
10.24911/ejmcr/173-1605461194
Rauf, F., Mansoor-ul-Haq, . & Rauf, . S. (2021) Agenesis of corpus callosum, severe developmental delay, recurrent infections, and cutaneous hypopigmentation: a case of Vici syndrome. European Journal of Medical Case Reports, 5 (8), 226-229. doi:
10.24911/ejmcr/173-1605461194