Apert Syndrome: A Case Report and Review of Literature

Apert syndrome, also known as acrocephalosyndactyly, is one of the causes of craniofacial syndrome or deformity. It is a rare congenital disorder characterized by premature fusion of cranial sutures (craniosynostosis), malformation of skull, hands, face and feet. This congenital deformity has incidence of 1/50,000 to 1/80,000 live births and is an autosomal dominant in inheritance. Apert syndrome, fibroblast growth factor receptor 2 (FGFR2) and the missense substitution mutations occur at adjacent amino acids (i.e. Ser252Trp, Ser 252Phe, Pro253Arg) between the second and third extra cellular immunoglobulin domain of FGFR2, which maps to chromosome bands 10q26. Increased paternal age has been implicated in the development of Apert syndrome. The syndrome has to be thoroughly evaluated as early definitive diagnosis is important in order to distinguish Apert syndrome from other forms of craniosynostosis like Carpenter syndrome, Crouzon disease, Pfeiffer and Saethre-Chotzen syndrome. It is generally accepted that management of Apert syndrome is multidisciplinary in approach, which should compose of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopaedic surgeons, ophthalmologists, radiologists, geneticists, clinical psychologists and speech and language pathologists for the effective management of this condition. Early diagnosis and treatment is important because Apert syndrome when treated early has good prognosis in adult life.

Pilot Study: Magnesium Sulphate Administration and Early Resolution of Hypoxic Ischemic Encephalopathy in Severe Perinatal Asphyxia

Introduction: Perinatal asphyxia is one of the leading causes of perinatal death and a recognized cause of neuromotor disability among survivors. About 20% - 30% of asphyxiated newborns who develop hypoxic ischemic encephalopathy (HIE) die during the neonatal period, and one third to one half of survivors are left with cerebral palsy and mental retardation. Objective of the Study: Was to determine the effect of magnesium sulphate as neuroprotective drug in hypoxic ischemic encephalopathy resulting from severe perinatal asphyxia. Materials and Methods: A prospective administration of magnesium sulphate to 52 severely asphyxiated newborns with hypoxic ischemic encephalopathy was conducted over one year period from 1st August 2017 to 31st July 2018. Results: Most (96.2%) of patients were term baby (GA ≥ 37 weeks). Most (90.4%) were in-hospital born, vaginal delivery accounted for 55.8% and 44.2% assisted delivery respectively. About one half (55.8%) of the patients commenced MgSO4 therapy at <6 hours after birth, while 30.6% and 16.6% commenced MgSO4 therapy at 6 - <24 hours and >24 hours after birth respectively. Time of commencement of first enteral feeding (p = 0.018) and time to full enteral feeding (p = 0.015) showed significant correlation with the survival without neurological deficit. The earlier the commencement of MgSO4 therapy, the better the proportion with strong palmar grasp, sucking reflex, tone and early resolution of encephalopathy. Conclusion: All the study subjects treated with magnesium sulphate had impressive improvement;however there is a need to conduct randomized placebo-controlled trial treatment of severe perinatal asphyxia so as to determine its effects on early resolution of hypoxic ischemic encephalopathy/neuroprotective activity.

Clinical Features and Haematological Indices of Neonatal Septicaemia in Poor Resource Setting

Background: The burden of neonatal septicaemia has remained high worldwide and even more severe in the developing countries like ours. Clinical manifestation is variable and non-specific thereby resulting in delay in diagnosis. Blood culture which is the gold standard for diagnosis of neonatal septicaemia (NNS) has many drawbacks due to long waiting time for culture process, low yield, improper inoculation adding to the problem of late diagnosis. Haematological parameters have been utilized in rapid and early diagnosis of NNS and prompt treatment thus circumventing problems associated with drawbacks in blood culture. Objective: The study was to identify the common clinical features of neonatal septicaemia and haematological indices that were commonly utilized in rapid diagnosis of NNS, and also to determine their sensitivity, specificity, positive predictive and negative predictive value. Materials and Methods: The study was prospective and neonates that had clinical features suggestive of neonatal septicaemia were enrolled consecutively into the study. The patients were appropriately investigated including blood cultures, CSF cultures and urine among others, also blood sample for packed cell volume (PCV), total white cell count (TWBC), absolute neutrophil count (ANC), absolute platelet count (APC). Immature to mature neutrophil ratio (I/MNR), immature to total neutrophil ratio (I/TNR) and micro-ESR (erythrocyte sedimentation rate) was also done and analyzed. Results: The common clinical symptoms were fever 39.5%, poor feeding 33.6%, excessive cry 38.7%, difficulty in breathing 50.0%, yellowish skin 26.9%, while the common physical signs were hyper/hypothermia 41.1%, tachypnoea 41.2%, septic umbilical stump 64.0%, hepatomegally 37.3% and convulsions 42.0%. Blood culture yield was positive in 41.82% and mortality was as high as 28.00%, the incidence of NNS was 5.9/1000 live births. The haematological parameters as marker of NNS PCV, TWBC, ANC, APC, I/MNR, I/TNR and micro-ESR individually were statistically significant (P < 0.05), also their individual sensitivity, specificity, positive and negative predictive values were highly associated with neonatal septicaemia. However, when they were tested in combinations these markers of neonatal septicaemia had low sensitivity, specificity and their predictive values were weak in excluding NNS. Conclusions: The need for early and rapid diagnosis of NNS is pertinent, culturing of the appropriate specimens remains the only way to identify the aetiological organisms, but is associated with delay. Haematological indices are excellent markers of NNS and analysis is rapid and can easily be done in our laboratory settings, and when utilized efficiently, it would circumvent the delay associated with blood culture for long waiting period for the result, thereby reducing morbidity and mortality.