3. A 42 year old woman was admitted to hospital with
a one month history of progressive forgetfulness,
irritability and confusion. There was no history of
tremor or confabulation. There was no history of
fever, headache, neck-ache or neck stiffness.
Further inquiry revealed she had developed rash
around her neck and in the distal parts of all four
limbs a month prior to the onset of the altered
mental status. The guardians also reported that the
patient had had diarrhea which was watery and had
lasted a week prior to admission. There was no
history of vomiting. She was on Cat 1 for the past 4
months.
5. PELLAGRA (ISONIAZID INDUCED)
Pellagra is due to B3 (niacin) deficiency
Isoniazid induced pellagra is caused by deficiency
of B3 DUE TO a deficiency of B6 (thiamine)
The picture : Casal’s necklace
8. FEATURES:
4 D’s
Dermatitis
Diarrhoea
Dementia
Death
Others-
Glossitis, loss of appetite, generalized weakness ,
vomiting, abdominal pain.
9. DUE TO B6 DEFICIENCY:
Microcytic Hypochromic anemia (B6 reqired by
delta ALA – 1st enzyme of heme sys)
Seizures :
glutamate
glutamate decarboxylase B6
GABA
Hyperactivity of neurons due to excess of glutamate
Homocysteinuria :
Cystathianone B synthase requires B6 (PLP) to convert
homocysteine to cystathione – increased CVA chances
10. TREATMENT
Always give Pyridoxine with isoniazid
B3 deficincy treated by:
oral nicotinamide (niacin) 100-200mg TDS x 5days
Adverse effects of niacin: FLUSHING
Due to tachyphylaxsis
Premedication with ASPIRIN
Niacin combined with
LAROPIPRANT a
prostaglandin D2 receptor 1
antagonist
12. A 58 year old woman came with a chief
complaint of syncope. She also had low
grade fever 38C.
Her 12 lead ecg showed..
13.
14. BRUGADA SYNDROME
First described in 1992 by Pedro and Josepg
Brugada
Associated with sudden cardiac death
Individuals are usually healthy with structurally
normal hearts
Generally considered a hereditary disease
More common cause of sudden cardiac death than
previously recognized
15. HOW COMMON IS IT??
Responsible for up to 20% of sudden deaths in pts
without any structural heart abnormality
Responsible for 4-5% of all sudden deaths
Incidence varies in different populations
Most common in young males
First onset of symptoms (syncope. Sudden death) ~
40 yrs
16. BRUGADA SYNDROME
Mortality ~10% per year if not treated with internal
cardioverter-defibrillator (ICD)
Antidsyrhythmics have no effects on prognosis
Syndrome characterized by:
ECG abnls. in lead v1-v3
Polymorphic or monomorphic VT
Structurally normal heart
Familial occurrence in ~ half of the pts
17. BRUGADA SYNDROME
ECG findings in v1-v3:
RBBB or IRBBB
ST segment elevation --- 2 types
“Coved-type” – most common
“Saddle-type”
Findings can vary depending on may factors including
fever/ambient temp
Definitive diagnosis: EPS (electrophysiology study
in EP labs)
19. TYPES:
1. Type 1 :
Coved ST segment
J point elevation with ST segment elevation >=0.2mV
Negative T wave
2. Type 2:
Saddle back configuration of ST
High take off of ST >0.2mV
Ending in positive or biphasic t wave without touching base
line
3. Type 3:
ST elevation <0.1 with either of the morphologies
27. Papules extending to form a yellow–red plaque
covered with telangiectatic vessels on the
patient's forearm. CBG 330. ???
28. NECROBIOSIS LIPOIDICA
DIABETICORUM
Necrobiosis lipoidica was first described by
Oppenheim in 1929 as a chronic granulomatous
dermatitis of unknown cause.
female:male ratio of 3:1
Mostly associated with Type 1 DM
29. FEATURE:
initially presents with well-circumscribed
erythematous papules, which develop into large,
irregularly delineated plaques with a waxy, yellow
center
the epidermis becomes thin and transparent,
allowing underlying vasculature to become visible
The involved peripheral tissue is slightly raised and
has a reddish-blue color
30.
31.
32. Pathophysiology
Exact cause not known
an inflammatory disorder characterised by collagen
degeneration, combined with a granulomatous response
Diagnosis
Skin biopsy
demonstrating superficial and deep perivascular and
interstitial mixed inflammatory cell infiltrate
necrotising vasculitis with adjacent necrobiosis and
necrosis of adnexal structures
Presence of lipid in necrobiotic areas may be
demonstrated by Sudan stains
No clearly defined cure.
34. A 18yr old boy came with deafness to the ENT opd. The
new female resident finds it to be SNHL and refers him
to MOPD. The physician asked for an MRI and saw this
plate (Fig 1)
The physician referred the pt to SOPD for a biopsy. After
having completed the up hill task of getting an aesthetic
fitness, finally the pathologist in his exam found
VEROCAY bodies in the specimen and told to correlate
clinically!
The surgeon meanwhile didn’t understand much as
usual and send the pt back to MOPD.
The physician gave a diagnosis of__________ and send
the pt back to the surgeon for surgical treatment.
35.
36. NEUROFIBROMATOSIS 2
A/k MISME syndrome- Multiple Inherited
Schwannomas, meningiomas and ependymomas
Less common than NF-1
Due to mutation of merlin (a/k schwannomin) in ch
22q12 , AD
Symptoms generally occur at late teen to 20yrs
37. CLINICAL FEATURES:
Hallmark of NF2 is hearing loss due to vestibular
schwannoma
Others:
Headache
Balance problems and peripheral vertigo
Facial weakness- compression of VII nerve
Deafness and tinnitus
Other brain and spinal tumours
38. DIAGNOSIS:
Confirmed diagnosis:
bilateral vestibular schwannomas (may also be known
as acoustic neuroma)
Probable diagnosis:
family history of NF2 AND
unilateral vestibular schwannomas or any 2 of the
following tumor types: meningioma, glioma,
schwannoma, juvenile posterior subcapsular lenticular
opacity, juvenile cortical cataract
39. TREATMENT
Surgery is the primary treatment for most peripheral
nerve tumors associated with NF2.
Systemic medical treatment:
Bevacizumab (still in trial)
Management of hearing loss:
Cochlear implant, ABI- auditory brain stem implant
For meningioma;
Sunitinib (in trial)
For vestibular schwannoma:
Lapatinib (in trial)
On autopsy, normal hearts. No athereosclerosis no hocm. Its purely a electro phenomenon
What was described in ealy 1990’s has become a hot topic in electrocardiology. There have been several consensus conferences and now the brugada syndrome is not just a Zebra diagnosis as though of before
In other words 1 out of every 20 to 25 cardiac arrests in the genearl population are due to brugada syndrome
Only treatment is ICD
More often polymorphic v tachs. And if you are lucky, it will terminate on its own, person wakes up from his collapse and wakes up saying that he had a syncopal episode. If they are not lucky, it degenerates from v tach to v fib and sudden death
So syncope and sudden death may be a part of the same disease in a spectrum
Most specefic and sensitive is the cove type
It is a sodium channelopathy, so if yu have sodium channel blockers like cocaine, tca, anticholinergics, it will increse the chnces of syncopal episodes. Infact electrophysiologist use a sodium channel blocker to test from this condition which induces v tach and confirms the diagnosis, then they place the ICD
Coved type, irrespective of sympotms must be investigated
Hammer the head as pattern recognition is important
Unusual St elevation in v1 and v2
The elecrophysiologist gave a diag of brugada at 1st look and the non electrophysiologist cariologist gave a diag of acute MI