A long case on Marfan syndrome

1. Long case presentation
Chairman:
Professor Shakwat Ara Shakoor
NIO&H.
Moderator:
Dr. Zahidul Ahsan Menon
Assistant professor, NIO&H.
Presenter:
Maj. (Dr.) A.K.M. Rashed-Ul-Hasan
FCPS Part- 2(Student), NIO&H.

2. Particulars of the patient
1. Name Mr. Hridoy
2. Father’s name Shakwat hossain
3. Age 20 yrs
4. Gender Male
5. Present address Joyram pur, Chuadanga
sadar, Chuadanga.
6. Permanent address -Do-
7 .Occupation Student
8. Date of Examination 01 august 2016

3. Chief complaint
 Dimness of vision in left eyes for
nine years

4. History of Present ocular illness
Patient states that he has been suffering from
dimness of vision in left eyes for nine years
which was gradually worsening day by day
but was not associated with pain, redness,
watering, photophobia or haloes around light.
He has no complaints of hearing difficulty.

5. Patient has history of trauma over left
orbital area 09 years back by bamboo
stick. With these problems he visited local
ophthalmologist and was referred to
NIO&H for better management.

6. Past ocular illness
• No history of surgery.
• No history of using spectacles.
General medical & surgical history
• Nothing conributory.

7. Personal history
• Unmarried.
• Non-smoker & non alcoholic.
Family history
• No such type of disease in his family.

8. Ocular examination
1. Visual
acuity
OD OS
Unaided -
Distant
6/6 6/60
Near N-6 Unable to see
With PH - No improvement
With aid - No improvement
2. Color vision Trichromatic Trichromatic
3. Field of
vision
(confrontation )
Normal Normal

9. OD OS
4. Hirschberg’s
reflex
central central
5. Pupillary
reaction
Brisk Brisk
6. Ocular
motility
Full in all
the gazes
Full in all the
gazes

10. Slit lamp examination
OD OS
1. Eye lid &
eye lashes
Normal Normal
2. Conjunctiva
3. Cornea
4. Anterior
chamber
Normal in
depth
Shallow
infero-nasally
Deep
Supero-
temporally
5. Iris Normal Iridodonesis

11. Cont…
6. Pupil 3 mm,
briskly reacting
3 mm,
briskly reacting
7. Crystalline
Lens
Normal Subluxation
infero-nasally
Phacodonesis
Lental opacity
8. IOP (GAT) 14 mm of Hg 16 mm of Hg
9. Gonioscopy
CB
CB
CB
CB CB CB
CB
CB

12. Infero-nasal subluxation

13. Examination of the posterior
segment
OD OS
1. Media Clear Clear
2. Optic disc Normal
C:D- 0.3
Normal
C:D- 0.3
3.Vascular
arcades
Normally
arranged
Normally
arranged

14. 4. Peripheral
retina
Normal White crescentic
streak along the
infero-temporal
vascular arcade &
“Y” shaped white
streak just below the
macula with some
pigmentary change
in periphery
5. Macula F. Reflex present F. Reflex present

15. Systemic examination
Musculoskeletal features
 Tall & thin stature
 Disproportionately long limbs.
 Arm span > height : 177.5 cm > 172.5 cm
 High- arched palate
 Chest appearance- normal.

16.  Joint laxity
 Thumb sign ( steinberg’s sign) : +ve
 Wrist sign ( walker-murdoch sign) : +ve
 Feet : flat
 Hernial orifices are intact

17. Arm Span > Height
High arched palate

18. Steinberg’s sign Walker-Murdoch sign
Arachnodactyly Joint flexity

19. Cardio-vascular system
 Pulse : 72/min.
 BP: 110/70 mmHg
 S1 & S2 - Audible
 Murmur – absent
 Apex beat – palpable in left 5th intercostal space

20.  Respiratory system
 Genito-urinary system
 Nervous system
 Gastro-intestinal system
 The skin and nails
No Abnormality
Detected

21. Salient feature
Mr. Hridoy , 20 years of age, from
Chuadanga, with the complaints of dimness
of vision in left eye for nine years which was
worsening day by day but was not associated
with pain, redness, watering, photophobia or
haloes around light or deafness. Patient has
history of trauma over left orbital area 09
years back by bamboo stick. No h/o surgery
or spectacle use.

22. Cont…
O/E: VA in RE 6/6 and in LE 6/60. No
improvement of vision with pinhole or
refraction in L/E. Pupillary reaction to light is
brisk in B/E.
On SLE: A/C is shallow infero-nasally & deep
supero-temporally with iridodonesis, infero-
nasally subluxated crystalline lens,
phacodonesis present in L/E.

23. On fundoscopy :
Media clear in B/E with normal right eye
In left eye white crescentic streak along
the infero-temporal vascular arcade &
“Y” shaped white streak just below the
macula with few pigmentary changes in
periphery.

24. Cont…
On Systemic examination:
 Extremities are long, arm span
(177.5 cm) > height (172.5cm),
 High arched palate.
 Thumb sign ( Steinberg’s sign) &
Wrist sign ( walker-Murdoch sign) : +ve
 Flat feet

25. Provisional Diagnosis

26. Marfan syndrome

27. Differential Diagnosis
• Homocystinuria
• Weill-Marchesani syndrome

28. Investigations
1. ECG : Bradycardia with 10 heart block
2. Urine for Sodium Nitroprusside
3. Blood for homocystine level
4. B- scan of orbit

31. Confirmatory diagnosis
Marfan syndrome with
Subluxated lens & choroidal rupture
( left eye)

32. Treatment
Pars plana lensectomy with vitrectomy and
scleral fixation of IOL.

33. Thank
you

35. Cyanide Na-Nitropruside urine test
4 drops of 5% Na-Nitropruside
+
acidic urine
+
2 ml Na-cyanide
Deep red colour
(homocysteinuria)