A case presentation of Neurofibromatosis

1. Presented By:
Dr. Maria Afroza Matin
Resident ( Diploma )
Dept. of Ophthalmology
Dhaka Medical College Hospital
Long Case Presentation

2. Particulars of The Patient
Name : Md. Shamim
Age : 30 years
Gender : Male
Religion : Islam
Address : Sheorapara, dhaka
Occupation : Business
Registration no. : 144/2
Ward no. : 301
Bed no. : B8
Date of admission : 2/2/23
Date of examination : 22/2/23

3. Presenting Complaint
 Swelling of outer portion of right upper eyelid for 15
years.
Drooping of right upper eyelid for 8 years

4. History of Present Illness
According to the statement of the patient, he was reasonably
well 15 years back. Then he developed swelling on outer
portion of right upper eyelid. Initially the swelling was small
in size but gradually it increased in size. And for last 8 years
the growth became more prominent. It was not associated
with pain or tenderness. There was no history of ocular
trauma.

5. History of Present Illness(cont)
He also developed gradual drooping of the right upper
eyelid over years. There is no aggravating and relieving
factor. Not associated with diplopia and has no diurnal
variation. For these complaints he visited several local
doctors but the condition did not improved .

6. History of Present Illness(cont)
He is non-diabeic, normotensive.
With these above complaints he admitted in DMCH for
further management.

7. History of Past Illness
•No signifiant history of ocular or systemic illness or
surgery.

8. Drug History
No significant drug history.

9. Family History
His father, mother, sisters and brother has no such
ocular illness. His wife , two daughters and a son are
also in good health.

10. Personal History
 He has no history of cigarette smoking.
 He is non alcoholic and has no history of betel nut &
betel leaf chewing.

11. Socio-economic History
He belongs to a low income family. He lives in tin shed
house, drinks tube-well water and uses sanitary latrine.

12. Immunization history
He is immunized according to EPI schedule.
Covid vaccine: not given.

13. General Examination
 Appearance
 Co-operation
 Pulse
 BP
 Temperature
 Anaemia
 Cyanosis
 Jaundice
 Oedema
 Clubbing
: Ill looking.
: Co-operative
: 78 b/min
: 120/70 mm of Hg
: 98.20 F
:Absent
:Absent
:Absent
:Absent
:Absent

14. General Examination (Cont.)
 Respiratory rate : 16 breaths/min
 Thyroid gland : Not enlarged
 Lymph nodes : Not palpable
 Neck vein : Not engorged

15. Right Eye Left Eye
Visual Acuity:
Distant vision
Near vision
6/12 (P) ; with pin
hole 6/6
N6
6/6
N6
Pupillary light
Reaction:
Direct
Consensual
Brisk
Present
Brisk
Present
Hirschberg Reflex Central Central
Ocular Examination (Cont.)

16. Ocular Examination (Cont.)
Right eye Left eye
Colour vision Trichromatic Trichromatic
Field of vision
(Confrontation
test)
Normal Normal
Ocular motility Full in all gazes Full in all gazes

17. Right Eye Left Eye
Eye lids and
Lashes
Swelling present .
S shaped deformity
present.
Normal
Conjunctiva Normal Normal
Cornea Transparent Transparent
Anterior
Chamber
Normal in depth in
both central and
peripheral part.
Normal in depth
in both central and
peripheral part.
Slit Lamp Examination

18. Slit Lamp Examination Cont.
Right Eye Left Eye
Pupil Round, Regular,
Reacting to light.
Round, Regular,
Reacting to light.
Iris Normal in color
and pattern .
Normal in color and
pattern.
Lens Transparent Transparent
IOP
(On
22/2/23
at 12 pm)
15mm of Hg 16mm of Hg

19. Fundoscopic Examination
R/E L/E
Media Clear Clear
Optic disc
Size Normal Normal
Shape Normal Normal
Margin Clear cut Clear cut
Colour normal normal
C: D 0.4 0.4
Blood vessels Normal in number Normal in number
Neuro retinal rim Healthy Healthy
Macula Normal, Foveal reflex present Normal, Foveal reflex present
Peripheral retina Normal Normal

20. Local examination
On inspection :
There is a facial asymmetry due to drooping of right
upper eyelid.
S shaped deformity present on right upper eyelid.

21. Local examination
On palpation :
Temperature : normal
Tenderness : non tender
Surface : smooth
Consistency : Firm , feeling like bags of worm.
Overlying skin is free
Not fixed with underlying structures.

22. Systemic Examination
Nervous System
Higher psychic
functions
Normal
Speech Normal
Cranial nerves Intact
Gait Within normal limit
Motor function Intact
Sensory functon Intact

23. Cardiovascular system:
•Heart Sound- S1and S2 audible
•Pecordial area- Normal
•Mumur- Absent
Systemic Examination(Cont.)

24. Respiratory system :
Inspection: Size and shape of chest- Normal
Chest movement bilaterally
symmetrical
Palpation : Position of trachea – normal
Vocal fremitus- resonant
Chest expansibility -Normal and bilateraly
symmetrical
Percussion: Resonant
Auscultation: Breath sound –Vesicular
Vocal resonance-Normal
Systemic Examination(Cont.)

25. Systemic Examination(Cont.)
Alimentary system :
Inspection: Size and Shape – Normal
Position of the Umbilicus –central
Palpation: Superficial- normal
Deep- normal and tenderness absent
Percussion: Tympanic
Auscultation: Bowel sound present.

26. Md. Shamim, 30 years old hailing from sheorapara, dhaka with
the complaints of swelling of outer part of right upper eyelid for
15 years. The swelling was initially small in size and gradually
increasing. For last 8 years it became more prominent. It was not
associated with any ocular trauma. Not associated with pain or
tenderness.
Salient Features

27. Salient Features(Cont.)
• Then he developed gradual drooping of right upper eyelid
for last 8 years. The drooping is not associated with any
aggravating or relieving factor. Not associated with
diplopia or diurnal variation. He is non diabetic and
normotensive.With these complaints he admitted in
DMCH for better management.

28. Salient Features (cont.)
• On general examination: patients appearance was
normal and was cooperative, Pulse-78 beats/min, BP-
120/70 mm of Hg, R/R-16 breaths/min. All other findings
reveal normal.

29. On ocular examination: VA(R/E) – 6/12 (P) ; with pinhole 6/6.
VA (L/E) – 6/6. Near vision is N6 on both eye. Colour vision-
Trichromatic (B/E). Field of vision is normal on both eye.
Pupillary light reflex- direct and consensual is normal on both
eye, Hirschberg reflex central on B/E. Ocular motility full in all
gaze(B/E).
Salient Features (Cont.)

30. Salient Features (Cont.)
• On Slit lamp examination :
Eye lids and Eye lashes (R/E) : there is swelling and s
shaped deformity present . Eyelids and Eye lashes (L/E) :
normal. Conjunctiva normal.(B/E). Cornea is clear in
both eye. Pupil is round,regular,and reacting (B/E).
Anterior chamber is normal in both eye. Lens is
transparent in both eye.

31. Salient Features (Cont.)
 Posterior segment: Media is clear on both eye. The size and
shape of optic disc appears normal in both eye. Margin is clear
cut on both eye.. Cup disc ratio is about 0.4. Macula and
peripheral retina appears normal.
On local examination :
Inspection : there is facial asymmetry due to swelling and
drooping of right upper eyelid.

32. Salient Features (Cont.)
• On palpation : temperature : normal, nontender , suface
is smooth, consistency is firm with feeling of bags of
worm. Overlying skin is free and not fixed with
underlying structures.
• Other systemic examinations reveal no abnormality.

33. Provisional Diagnosis
• Neurofibromatosis.

34. Differential Diagnosis
•Lymphoma
•Capillary Hemangioma

35. Investigation
•Ocular :
CT scan of brain and orbit.
•Systemic :
CBC
BT, CT
RBS
S. creatinine
Chest x ray
ECG

36. Plan of Management
•Debulking with eyelid reconstruction under G/A