The 6-month-old Benjamin, son of Elias and Eva Nielsen from the Faroe Islands were transferred to paediatric department Royal Manchester Children’s Hospital from A&E. Benjamin is their seventh child, and his parents had sought medical advice twice since his birth 1) GP – day 28 reporting fever, chestiness and poor suckling, Rx with antibiotics after paediatric referral 2) A&E – 4 months old suffering laboured breathing, tachycardia, poor appetite, and very sleepy.
Benjamin was born at 39+2 weeks via normal vaginal delivery weighing 3.0kg, after an uneventful pregnancy. Initial blood spot test results revealed slightly deranged CUP levels.
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Get Help Now!Lab also reported results indicating dicarboxylic aciduria. The Paediatric unit took skin biopsies from Benjamin, Elias and Eva to culture and determine effects on cultured skin fibroblasts.
Questions
1. What is the pathogenesis of this disease?
2. This disorder presented in this case in early childhood but there are alternative versions of the disease, identifiable in his siblings. What are the different treatments for this disease?
3. What advice in regards to inheritance do you fell should have been given to the parents of this child?
How many words is your brief:
2700 words
Referencing style to be used :
HARVARD STYLE
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