A 32 yr old male patient with a
diagnosis of Werner syndrome is posted for debridement of non healing ulcer in
the left lower limb. He was diagnosed with Werner syndrome 10 yrs back when he
had developed cataract bilaterally and surgery under local anaesthesia was done
for the same and vision was restored. Six years back he was diagnosed with type
II diabetes mellitus and he has been on oral hypoglycemic agents since then. No
history of chest pain or breathlessness. The patient has been having multiple
ulcers on the lower limbs and frequently visits the dermatology clinic for
regular dressings. These ulcers have been painful and so the patient was
confined to the bed. Patient gives history of loss of molar teeth on either
side. History obtained from the parents revealed that the patient’s sister had
the same disease and died of ischaemic heart disease at the age of 25 yrs.
On examination, patient appeared to be
60 yrs of age, cooperative but unable to articulate his speech correctly. The
head was large, there was loss of hair extensively over the scalp with
premature greying, absent outer eyebrows and pale conjunctiva. The skin
appeared to be non-elastic with decreased fat in the subcutaneous tissue and
thin extremities. The chest was deformed with prominent lower ribs. Chest was
clear on auscultation and cardiac sounds were well heard. Multiple small ulcers
were seen on the upper and lower extremities. A large ulcer measuring 7x8 cms
was seen in the left ankle which needed debridement under anaesthesia.
Airway examination revealed mouth
opening of 1.5 cms with Mallampati grade IV. Neck extension was slightly
restricted. Thyromental distance was normal. Mild scoliosis was present on
examination of the spine. Investigations showed hemoglobin -9.6 gms%,
platelet-3.6 lakhs/dl, INR-1.1, RBS-217gms/dl, FBS-126gms/dl, HbA1C-7.0, renal
function tests, serum electrolytes were within normal limits. Left lower limb
arterial doppler study revealed generalized atherosclerotic changes of lower
limbs with biphasic spectral waveform. Electrocardiography and echocardiography
were normal.
No comments:
Post a Comment