Arthrogryposis Multiplex Congenita (AMC) is an uncommon but easily recognizable syndrome of musculoskeletal system. All four extremities and the trunk may be affected. The hallmark of this entity is the lack of active and passive motion in the affected extremities. Rather than a specific diagnosis, it is a clinical finding. The earliest antenatal diagnosis of arthrogryposis can be made as early as 7 to 8 weeks. Treatment options include multidisciplinary approach with careful orthopaedic care followed by physiotherapy. In this case report of a newborn with distal AMC with multisystem involvement based on literature and clinical experience, the authors present an update on aetiology, antenatal diagnosis, classification and management of AMC. Through this report, we would like to stress upon the significant role of antenatal ultrasound in not only diagnosing but also in prevention of this condition.
INTRODUCTION: Congenital anomaliesaccount for 9% of neonatal deaths in India. Prevalence of birth anomalies in India is 6-7%. AIMS AND OBJECTIVES: The objective was to determine proportion and clinical spectrum of congenital anomalies and maternal and perinatal risk factors associated with congenital anomalies in live newborns in our area. MATERIALS AND METHODS: Neonates born in ALLURI SITARAMA RAJU ACADEMY OF MEDICAL SCIENCES hospital during study period with documented congenital anomalies are included. All still-borns and gestational age <22wks & birth weight <400gm were excluded. Retrospective hospital-based study, conducted between January 2019 to December 2019 in ASRAM Hospital. RESULTS: The total number of births is 1132 during this one year of which, 106 newborns had congenital anomalies. In this study we found that major anomalies (80.2%) , Minor anomalies (19.8%).In this study we found that most of the anomalies were major and mostly involved cardiovascular system. In minor anomalies the most common defect was sacral dimple. CONCLUSION: Congenital anomalies can be reduced with in-utero surgeries, and necessary preventive measures which are becoming feasible.
A 21-year-old primigravida with an uneventful antenatal history delivered a male child at a Primary Health Centre (PHC) by spontaneous vaginal delivery with a birth weight of 2.925 kg. Breastfeeding was instituted by 20 minutes after the birth, the baby was discharged with the mother on third postnatal day.The infant was brought on 16 th day of life with complaints of fever, refusal of feeds and lethargy [Table/ Fig-1]. The mother also reported that the baby had decreased urine output since one week. On admission, the baby was lethargic and hypotonic with sunken eyes, the skin was doughy on palpation and anterior fontanelle was also sunken. The weight of the baby was 2.1 kg, indicating a weight loss of 28%. Heart rate was 170/min respiratory rate was 54/minute, temperature 35.5 0 C with a blood pressure of 80/42 mmHg. The respiration was shallow and the child had a weak cry on stimulation.An intravenous line was secured and samples were drawn for blood culture, complete haemogram with peripheral smear, C-Reactive Protein (CRP), serum electrolytes and renal parameters. The child was started on Intravenous Fluids (IVF) after giving Normal Saline (NS) bolus of 10 ml/kg and antibiotics ampicillin and gentamicin were started. The initial laboratory results were as follows: Complete Blood Count (CBC): normal, peripheral smear: normal, AbStRACtHypernatraemic dehydration in neonates may lead to potentially lethal consequences like cerebral oedema, intracranial haemorrhage, hydrocephalus and gangrene. In the light of increase in the infants presenting with hypernatraemic dehydration, there is a definitive need to heighten the awareness and have a high degree of suspicion in diagnosis for this potentially lethal condition. We report two neonates of severe hypernatraemia with dehydration highlighting its diagnosis and management. Treatment of hypernatraemic dehydration involves correction of electrolyte imbalance by careful restoration of fluids and ensuring appropriate intake of calories. Promoting, protecting and supporting breastfeeding by careful breastfeeding assessment and including an early post partum follow up in the hospital protocol to detect any unusual weight loss in the newborn period plays a significant role in preventing this condition.[ CRP: negative, serum sodium: 188 meq/l, serum potassium: 4.1 meq/l, serum chloride: 140 mmol/l, blood urea: 220, and serum creatinine: 1.7 mg/dL. The fractional excretion of sodium was 0.8 which was in the range of prerenal azotemia. A diagnosis of severe hypernatraemic dehydration with prerenal azotemia was made. The fluids were changed to 5% dextrose in 1/2 NS with rate 1.5 times more than maintenance fluid by calculating free water deficit. Serum electrolytes and renal parameters were monitored every four hours. The laboratory investigations during the course of admission have been depicted in [Table/ Fig-2].[table/ Fig-2]: Laboratory investigations and course (Case 1).IVF was given for five days and breastfeeding started from day 4 of admission. Blood culture and sensi...
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