Master Jikir Hossain, a 9-year-old male from Nator, Bangladesh, presented with proptosis of both eyes, swelling of the left eyelid, and incomplete eyelid closure for 7 months. Physical examination found syndactyly of both hands and feet, abnormal head shape, and mental retardation. Based on these findings and a family history of nonconsanguineous parents, a provisional diagnosis of Apert syndrome was made. Further examinations including CT scan of the brain confirmed features consistent with Apert syndrome, which is a genetic disorder caused by mutations in the FGFR2 gene. The patient's management will involve surgery and input from ophthalmology and neurosurgery.

2. Jens Martensson
• Name : Master Jikir Hossain
• Age : 9 years
• Sex : Male
• Religion : Islam
• Address : Nator
• Date of examination :4/10/2023
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Particulars of the Patient:

3. Jens Martensson
Master Jikir Hossain 9 years old male hailing from Nator came to
Department of Ophthalmology with complaints of forward
protrusion of both eyes with swelling of left eyelid for 7 months and
incomplete closure of both eyelids for same duration. It was
gradually increasing in nature and associated with redness,
photophobia ,grittiness but not associated with visual disturbance,
watering, itching, color halos and double vision.
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Case Summary:

4. Jens Martensson
His father also complained of symmetric syndactyly of both
hands and feet, abnormal shape of the head and mental
retardation, manifested by the lack of development of
speech since birth.
He was born of a nonconsanguineous marriage. Patient is
the first issue of his parents and has a female sibling.
No illness or use of medications during pregnancy was
reported.
The delivery was full term and uneventful
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Cont:

5. Jens Martensson
With the above complaints he went to Ispahani Islamia eye
Hospital and then he was referred to BSMMU for better
management. He is non diabetic, normotensive and non asthmatic.
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Cont:

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• abnormal contour of the head
(turribrachycephaly),
• mental retardation,
• delayed milestones,
• mid-face hypoplasia,
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Physical Examination:

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• symmetric syndactyly of
second, third, fourth and fifth
digits of the hands and all the
toes of the feet
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• proptosis,
• hypertelorism,
• exorbitism,
• funnel chest,
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• high arched palate and
crowded teeth
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Ocular Examination:
Ocular Examination Right Left
Visual acuity-distant vision 6/6 6/6
pinhole NI NI
near vision N5 N5
Pupillary light reflex-
Direct
Consensual
Brisk
Present
Brisk
Present
Hirschberg reflex Central Central
RAPD Absent Absent
Ocular motility Full in all gaze Full in all gaze
Color Vision Trichromatic Trichromatic

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100
22 23
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Hertels exophthalmometry

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Right Left
Eyelids Lagophthalmos present Lagophthalmos present
Eyelashes Normal Normal
Conjunctiva Normal Conjunctival chemosis
Cornea Transparent Transparent
Anterior Chamber Normal in depth both in centre and periphery Normal in depth both in centre and
periphery
Iris Normal in color and pattern Normal in color and pattern
Pupil Round regular and reacting to light Round regular and reacting to light
Lens Transparent Transparent
IOP (by GAT at 4/10/2023
@ 11.06am)mmHg
12 12
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Slit lamp findings:

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Right Left
Media Clear Clear
Optic disc-Color Pink Pink
Margin Well defined Well defined
Shape Circular Circular
CD ratio 0.3 0.3
Blood vessels Normal in number and distribution Normal in number and distribution
Macula Healthy, Foveal reflex present Healthy, Foveal reflex present
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Fundoscopic examination:

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• Other systemic examination revealed no abnormality
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Apert Syndrome
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Provisional Diagnosis:

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• Crouzon’s syndrome
• Pfieffer’s syndrome
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Differential diagnosis:

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• CBC with ESR
• BT,CT
• Fasting blood sugar
• SGPT,TSH
• S. creatinine
• S. electrolytes
• Chest x-ray(P/A view) and x-ray wrists and ankle joints
• Ct scan of brain
• Colour Fundus photography(ocular)
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Investigations:

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• Radiographs of both feet showed soft tissue syndactyly of all the
toes with synostosis involving metatarsals. Phalanges of great toe
were deformed.
• Ct scan of brain revealed complete loss of interdigitation in coronal
and partial loss on left lambdoid suture, protrusion of both eyeballs,
abnormal shape of head, decreased nasal bridge and smaller
orbital cavity .
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Multidisciplinary
approch
Neurosurgery
Ophthalmology
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Plan of management:

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• Proper counselling.
• Medical Management:
• Moxifloxacin eye drop(B/E)
• Artificial tear (B/E)
• Hypercellose0.3%+Carbomer0.2% eye prep (B/E)
• Surgical management:
• Lateral permanent tarsorrhaphy under general anesthesia
• Management from dept. of neurosurgery
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Management:

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• Apert syndrome is a genetic disorder in which the fingers, face,
toes, or feet are mutated. Apert syndrome can be inherited
from a parent who has it or through a genetic mutation.
• A child with Apert syndrome usually has brain plates that have
fused together and cause pressure in the head and also
physical deformation of the head. Apert syndrome also shows
in the fingers and toes.
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What is Apert Syndrome?

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• 1 in 65,000 to 88,000 newborns have Apert syndrome.
• Apert syndrome is usually found in Asians at 22.3 cases per
million births whereas Hispanics have the lowest percent of
infected at 7.6 cases per million births.
• Apert syndrome affects males and females equally.
• It is seen a lot in children with elder fathers.
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Who does Apert Syndrome affect?

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• Apert syndrome is caused by the mutation of chromosome 10,
which controls the production of a protein called fibroblast growth
factor receptor 2 (FGFR2).
• The FGFR2 protein controls bone and skin formations.
• This syndrome is usually found in children of elderly fathers
around the age of 50 when it is not inherited.
• The mutation happens in the sperm.
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Causes of Apert Syndrome:

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• The only treatment of Apert syndrome is surgery.
• “Cranial reformation” is the procedure of separating plates in a
child’s skull which have prematurely fused and cause increased
pressure in the brain as it tries to grow.
• Surgery can also be done on fingers and toes.
• When the fingers and toes are morphed together, the condition is
called syndactyly.
• It is the most common symptom of Apert syndrome.
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Treatment:

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• Apert Syndrome cannot be cured.
• However, there are many preventions and treatments to
developing complications and to help the child diagnosed to
grow normally. This might include seeing various specialists and,
or, surgery.
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Prevention:

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