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- 2. Jens Martensson • Name : Master Jikir Hossain • Age : 9 years • Sex : Male • Religion : Islam • Address : Nator • Date of examination :4/10/2023 2 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. 3 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 4 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. 5 Cont:
- 6. Jens Martensson • abnormal contour of the head (turribrachycephaly), • mental retardation, • delayed milestones, • mid-face hypoplasia, 6 Physical Examination:
- 7. Jens Martensson • symmetric syndactyly of second, third, fourth and fifth digits of the hands and all the toes of the feet 7
- 9. Jens Martensson • proptosis, • hypertelorism, • exorbitism, • funnel chest, 9
- 12. Jens Martensson • high arched palate and crowded teeth 12
- 13. Jens Martensson 13 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
- 14. Jens Martensson 100 22 23 14 Hertels exophthalmometry
- 15. Jens Martensson 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 15 Slit lamp findings:
- 16. Jens Martensson 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 16 Fundoscopic examination:
- 18. Jens Martensson • Other systemic examination revealed no abnormality 18
- 19. Jens Martensson Apert Syndrome 19 Provisional Diagnosis:
- 20. Jens Martensson • Crouzon’s syndrome • Pfieffer’s syndrome 20 Differential diagnosis:
- 21. Jens Martensson • 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) 21 Investigations:
- 25. Jens Martensson • 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 . 25
- 27. Jens Martensson • 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 27 Management:
- 29. Jens Martensson • 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. 29 What is Apert Syndrome?
- 31. Jens Martensson • 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. 31 Who does Apert Syndrome affect?
- 33. Jens Martensson • 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. 33 Causes of Apert Syndrome:
- 35. Jens Martensson • 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. 35 Treatment:
- 36. Jens Martensson • 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. 36 Prevention: