Vici Syndrome: A Case Report of Non-Identical Twins with Oculo- Cutaneous Albinism, Recurrent Infections and Absent Corpus Collasum

Abstract

Case Reportglobal developmental delay, seizures, cataracts, absent corpus collasum, cleft lip and palate and cardiomyopathy [1]. Several case reports have described this condition over the past 3 decades. Here we describe a case of non identical twins who presented with this condition early in infancy. Case PresentationWe present two cases of 3 months old non identical twins, an outcome of a consanguineous marriage. They were delivered to an uneventful pregnancy via Caesarean Section due to twin pregnancy. They presented with, failure to thrive, feeding reflux regurgitation, developmental delay, left sided focal tonic clonic seizures since they were 7 days old. They had a past history of a chest infection, one week before their presentation to which they sought medical attention and were treated for by oral medications. Their family history was significant for Albinism, with normal development and outcome.On examination: They had oculocutaneous albinism dehydrated, very floppy, with a weak cry, with a positive moro reflex. Their weight and height were below the 5 th centiles for their age. They had silvery white hair with fair skin and blue reddish eyes. They had no palpable lymphnodes. Anterior fontanelle was normal with 3*3 centimeters in diameter; they had a high arched palate with oral mucocutaneouscandidaisis. Cardiovascular examination showed a systolic murmur in the mitral area, with normal 1 st and 2 nd heart sounds. Chest examination was clear. Abdominal examination was unremarkable. Central Nervous System examination revealed they had horizontal nystagmus, poor suckling reflex with generalized hypotonia and hyporeflexia.The patients were admitted with the pediatric neurology unit; for seizure control, nutritional support and rehydration. One week into their admission they developed urinary tract infection, and were prescribed parentral antibiotics for 5 days. Their complete blood count (CBC), in twin 1 and twin 2 respectively: Haemoglobin: 9.2 g/dl and 9.5 g/dl WBCs: 10.700 cells and 7.500 cells /mm 3 , Platelets: 453,000 and 444,000. Lymphocytes were: 65% and 51%, neutrophils: 28% and 38% with mixed cells: 7.4% and 11% respectively. Lymphocytosis in both twins was normal and corresponding with their age. Their peripheral blood picture showed features of mild hypochromic anaemia with normal Red and white blood cells in morphology and count, with large platelets. Five days later their mother complained of cough that was especially worse during the night, associated with diarrhoea and high grade fever that was not responding to oral paracetmol and cold sponging. They had coarse crackles all over the chest, chest X-rays revealed upper lobes consolidation and features of aspiration pneumonia. Blood cultures were taken for both twins and revealed MRSA in twin one and Enterococci in the 2 nd twin. They were treated with intravenous antibiotics namely Ceftazidime (50mg/kg/ dose every 8 hours) and Vancomycin (15mg/kg/dose every 8 hours) for 14 days. The twins conditions improved gradually and they were dischar...