ABSTRACT
DiGeorge syndrome is a genetic disorder that is related to a wide range of defects affecting various parts of the body. The clinical expression shows marked variability making the diagnosis often missed or underdiagnosed. Here, we describe a neonate who presented with loud inspiratory stridor secondary to hypocalcaemia at birth. Physical examination revealed no abnormality other than evidence of congenital cardiac defect. Laboratory evaluations confirmed the diagnosis of maternal vitamin D deficiency that led to symptomatic hypocalcaemia in the newborn infant. The presence of hypocalcaemia coupled with episodes of recurrent infections led to the clinical suspicion of DiGeorge, which was later confirmed by fluorescence in situ hybridisation test.
Subject(s)
DiGeorge Syndrome , Hypocalcemia , Infant, Newborn, Diseases , Vitamin D Deficiency , DiGeorge Syndrome/complications , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Humans , Hypocalcemia/complications , Hypocalcemia/diagnosis , Infant , Infant, Newborn , Malaysia , Vitamin D , Vitamin D Deficiency/complications , Vitamin D Deficiency/diagnosisABSTRACT
INTRODUCTION: Invasive pneumococcal disease (IPD) a leading cause of death and morbidity in children below five-yearsold. This study aims to compare the varied presentation and clinical course of IPD in two different tertiary hospitals in Malaysia. METHODOLOGY: A retrospective study of all positive Streptococcus pneumoniae isolates consistent with invasive disease from children below 14 years of age hospitalised in two tertiary hospitals; between year 2012 and 2016 was conducted. IPD cases were defined as isolates of S. pneumoniae from a normally sterile body fluid site. RESULTS: Fifty-four patients were identified in both centres, 35 (65%) from HRPB as compared to 19 (35%) from HS. Majority of cases (14/35, 40 %) in HRPB were of Orang Asli in comparison to Malay children (16/19, 84%) in HS. Septicaemia, pneumonia and meningitis were the most common clinical presentation of IPD in both centres. There was a noticeably higher percentage of isolates found to be non-susceptible (NS) in HS (62.5%) as compared to HRPB (37.5%) although of no statistical significance. Mortality rate was higher in HRPB (26%) in comparison to 11% in HS. CONCLUSION: This study highlighted the varied presentation of IPD in two different hospital settings. Although both deemed as urban centres, this study emphasises the importance of understanding socio-demography, health facility availability and primary care practices as it significantly alters the clinical course of a disease.
