The patient, an 18-year-old boy, presented with deafness and was found to have unilateral sensorineural hearing loss on examination. An MRI showed a vestibular schwannoma. A biopsy found Verocay bodies, indicating a schwannoma. The physician diagnosed neurofibromatosis type 2 based on the bilateral vestibular schwannomas and family history. NF2 is characterized by bilateral vestibular schwannomas and other nervous system tumors due to a genetic mutation. The patient was referred for surgical treatment of the tumors.

1. OSCE
DR SUBHASISH DEB
Burdwan Medical College and Hospital
Department of General Medicine

2. CASE 1

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.

4. Diagnosis?

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

6. B6

7. CAUSES
1. Deficiency of niacin (maize eating population)
2. Deficiency of tryptophan
 Decreased intake (meat, fish)
 Lucine (inhibits QRPT enzyme)
 B6 deficiency (needed by kynunreninase
enzyme)
3. Carcinoid syndrome (conversion to serotonin)
4. Factors causing decreased absorption – Crohn’s
disease, Gasteroenterostomy, chronic alcoholism,
Hartnup’s disease

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

11. CASE 2

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..

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)

18. Saddle
type
Cove
type

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

23. UNCOMPLICATED RBBB
ST depression

26. CASE 3

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

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.

33. CASE 4

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.

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)

40. THANK YOU