It takes time to reach definitive diagnosis...

As the old saying goes, it is easy to look back into history and have a better understanding the whole situation.

However, sometimes, when seeing a patient, time is a luxury that a doctor does not have. 

Sometimes, things evolve rapidly eg. a patient may look well just a few minutes ago, but suddenly become very sick beyond salvation after that... This is a nightmare scenerio that most doctors fear!

Cases in point ...

Case #1:

I recently saw a young child with isolated right facial nerve palsy of 2 weeks' duration. She was otherwise well. Hence, I shared my thoughts with her parents - that isolated facial nerve palsy has excellent prognosis, with spontaneous recovery in almost all children in 1-3 months. On rare occasions where there is no significant improvement by 1 month, a neuroimaging study may be warranted to exclude sinister causes (e.g. nerve compression by tumour). 

The child came back one week later with decreasaed hearing on right side. MRI head done 2 days later showed the presence of brainstem tumour (which carries grave prognosis).

Her gait became wobbly the following day. 

Subsequently, she was referred to neuro-oncology team in KK Hospital for advise on further treatment plan. 

The question often arises in such situation is should a scan be done earlier? From evidence based medicine, neuroimaging for isolated facial nerve palsy in otherwise healthy child is not necessary. However, if there are other associated with abnormal neurological findings such as impaired hearing, focal weakness or unsteady gait - then neuroimaging study is necessary. 

Case #2:

 A 9 year-old boy with new onset obsessive compulsive behaviour, agitation, impulsivity, learning difficulties - these evolved gradually over a few months. 

He was thought to have attention deficit hyperactivity disorder (ADHD) initially, and then possible Autism Spectrum Disorder...

I ran a few tests - MRI head, lab tests to exclude immune encephalitis / lupus --> they were all normal. But his EEG (brain wave test) showed some abnormal discharges in right temporal region.

The possible diagnosis of PANS (paediatric acute neuropsychiatric syndrome) was considered - he was given a short course of steroid; his behaviour improved with steroid medicine, but relapsed once steroid was weaned off. 

After much deliberation, his parents finally agreed for more comprehensive evaluation (spinal tap, repeat EEG) and treatment with immuno-modulatory treatment (IV steroid and IVIG) last week.

He is due for review in a week -> I am cautiously optimistic that his condition will improve with the medical intervention. Keep fingers crossed. 

Case #3:

8-year-old boy with low grade fever x 1 week, followed by nausea x 1 month, and only fed white rice together with some gravy. Developed generalized swelling (edema), leg weakness, double vision, and had a seizure secondary to hyponatremia (low sodium level). Clinically, he had generalized edema, horizontal nystagmus, lower limb weakness with areflexia (indicative of neuropathy). He had difficulty in voiding urine (needs indwelling urinary catheter) 2 days before admission to hospital.

Evacuated to Singapore - MRI head showed abnormal signal in bilateral thamus - this changes can be seen in Thiamine Deficiency.

Looking back, all his signs and symptoms can be attributed to Thiamine Deficiency - he was treated with thiamine -- his condition gradually improved over the following week. 

Indeed, some medical condition can be diagnosed after reviewing the history and performing clinical examination, but some more complex cases need time for physician to unravel the mystery to come to a definitive diagnosis.

Advising affected individuals that we need time to reach a diagnosis may sound cruel, but it is inevitable sometime!