Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review.

RATIONALE: Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, congenital cataracts, cardiomyopathy, combined immunodeficiency, significant developmental delay, and hypopigmentation and in some cases loss of hearing. It is caused by mutations in Ectopic P-granules protein 5 gene, which is responsible for regulating autophagy activity. PATIENT CONCERN: We report a 6-month-old Saudi female patient who was the second-born baby of first cousins. She was born by normal spontaneous vertex vaginal delivery. Parents noticed that she had global developmental delay and recurrent hospital admissions due to chest infections. DIAGNOSIS: Brain magnetic resonance imaging showed brain atrophy with corpus callosum agenesis. Ophthalmology examination revealed bilateral congenital cataract. Molecular genetic testing identified the pathogenic homozygous variant c.4751T>A p. (Leu1584*) on exon 27 of the EPG5 gene and confirmed the diagnosis of Vici syndrome. INTERVENTIONS: Supportive multidisciplinary care plan was initiated to this untreatable syndrome. OUTCOMES: The patient died at the age of 6 months due to sepsis with uncompensated septic shock. LESSONS: VICIS is a rare untreatable disorder with worldwide distribution. High index of suspicion is needed to diagnose it and family genetic counselling is crucial.

[Thromboembolic complications of childhood nephrotic syndrome]. / Complications thromboemboliques du syndrome nephrotique de l'enfant.

BACKGROUND: Vascular thrombosis in the childhood nephrotic syndrome is a rare event. It poses major diagnostic and therapeutic problems. The prognosis depends on early diagnosis and on precocious anticoagulation. The risk of extension of thrombosis and pulmonary embolism is real. AIMS: To consider the major thrombotic events associated with childhood nephrotic syndrome and to establish an appropriate preventive approach based on objective clinical and laboratory parameters. METHODS: This is a retrospective study of all cases of patients suffering from idiopathic nephrotic syndrome, during a period of 20 years, starting from January 1990 to December 2009. We selected six patients with vascular thrombosis. The diagnosis was confirmed by appropriate radiological investigation. RESULTS: Six cases of vascular thrombosis were identified among 260 cases of nephrotic syndrome collected during the period study. Patients are divided into five boys and one girl. The mean age was 13.3 years. The localisation of thrombosis is venous in all cases. One patient presented a massively fatal pulmonary embolism. Sinovenous thrombosis has been objectified in 3 patients who were all treated with a good therapeutic response. CONCLUSION: vascular thrombosis remains one of the most serious complications of nephrotic syndrome in children. Early diagnosis and precocious anticoagulation are essential for preventing the extension of thrombosis.