In cardiology patients
May present later than in term babies because the ductus arteriosus takes longer to close. It is espeically likely if there are associated structural abnormalities.
Consider cyanotic heart disease in babies with increasing oxygen requirements but normal gasses.
The Nitrogen Washout Test is diagnostic of congenital heart disease. Babies are delivered 100% oxygen for five minutes. The nromal result is for an arterial PaO2 to rise > 20 kPa.
Tetralogy of fallot is the most commonly occuring cyanotic heart defect.
IVU (Intravenous Urograms) can be used to detect abnormalities of the ureters and their insertions.
Diuretic (Renal) Scintigraphy determines the function of the kidneys to eliminate a radiolabelled isotope. If there is obstruction to the ureters or inadequate renal perfusion this will be demonstated in these studies.
DMSA scans demonstrate static renal function and can detect renal scarring or pyelonephritis.
Weakness occurring in myotonic dystrophy is mild in the early years but gradually progresses such that there is progressive wasting of the distal muscles. Unlike other muscular disorders, myotonic dystrophy affects distal muscles first and so mimics a neurological condition. Patients' tongues may be deeply furrowed.
Cataracts can occur, IgG tends to be low, hypothyroidism can contribute to learning difficulties.
DNA analysis demonstrates CTG repeats and is diagnostic.
EMG is also characteristic and shows muscles that are slow to relax.
ECG is requried because aberrant conduction is a common cause of death.
Diabetes is commonly associated and blood sugar monitoring is also advised.