Dr Nisha George, Sundaram Medical Foundation Children s Hospital Chennai
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1 Dr Nisha George, Sundaram Medical Foundation Children s Hospital Chennai
2 4 year old girl Opacity right eye 5 months Opacity left eye 3 months Keeping head flexed and eyes closed 3 months
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5 No history of trauma, fever No seizures or alteration in consciousness No change in routine activity Only child to parents in a consanguinous marriage (parents are cousins) Born normally, Birth weight: 2750gm Neonatal period : Uneventful Not loose on handling Development: Normal No significant past history
6 On examination Alert, talks in response, Wt: 12.58Kg (3 th cent) Ht: 100cm (50 th cent), Arm span:100cm US/LS ratio: 1:1 HC: 52cm, dolicocephalic Dysmorphism Flat facies, depressed nasal bridge, Hyperextensible joints- elbow, wrist, knee, ankle
7 CNS examination: Normal sensorium- conscious, oriented, clear speech Cranial nerves: Limited exam normal Motor system: Power 5/5 all four limbs Brisk DTRs Down going plantars
8 Sensory examination to touch and pain normal Joint position sense normal No cerebellar signs Torticollis present When pulled up in the supine position no head lag When lying supine head extends but child in pain.
9 Investigations Hb:11.4gm/dl WBC and platelet counts : normal Electrolytes: normal ESR and CRP normal CPK normal ANA and DSDNA negative
10 Ophthalmologic examination Previous examination: Blue sclera Small cornea, dry mucosa Corneal opacities both eyes Normal fundus Normal intraocular pressures
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12 Imaging MRI Brain: Atrophy of bilateral cerebellar hemispheres. Involvment of bilateral posterior parietal and occipital lobes. Thinning of white matter of both areas. 128 slice CT angiogram: Normal
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14 MRI cervical spine: Prominent dens mildly compressing on the cervico-medullary junction. X- Ray Cervical spine: Evidence of atlanto axial subluxation
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16 Connecting the dots Microcornea Corneal opacities Hyper extensible joints Ehlers- Danlos syndrome Brittle cornea syndrome Marfans syndrome Osteogenesis imperfecta
17 Ehlers- Danlos syndrome Brittle cornea syndrome
18 Ehlers-Danlos syndrome A group of related conditions with a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. Edward Ehlers, a Danish dermatologist, in 1901 Henri-Alexandre Danlos, a French physician with expertise in chemistry of skin disorders, in Delineated the phenotype Indian Rubber man, The Elastic Lady," and "The Human Pretzel.
19 Pathophysiology: Various abnormalities in the synthesis and metabolism of collagen and other connective tissue proteins. 1. Collagen: Most abundant 29 genes / Located on 15 of the 24 chromosomes 19 identifiable forms of collagen molecules. 2. Elastin: Elastin protein with microfibrillar array (Cutis laxa/ws) 3. Microfibrillar protein is fibrillin (Marfans ) 4. Proteoglycans - Glue of the connective tissue protein The specific characteristics of a particular form of Ehlers-Danlos syndrome-tissue-specific distribution of various components of the extracellular matrix
20 Accurate clinical diagnosis primary means of identifying affected individuals. 50% do not have a type or form that can be classified easily on clinical basis Ehlers-Danlos National Foundation (EDNF) in Type Inh Prev Major Minor Classic AD I/II Skin hyperextensibility, wide atrophic scars, joint hypermobility Smooth, velvety skin; easy bruising; molluscoid Pseudotumors etc. Hype mobility AD III Skin involvement (soft, smooth and velvety), joint hypermobility Recurrent joint dislocation; chronic joint pain, limb pain, or both; positive family history
21 Type I Prev Major criteria Minor criteria Vascular AD IV Thin, translucent skin; arterial/intestinal fragility or rupture; extensive bruising; characteristic facial appearance. hypermobile small joints; tendon/muscle rupture; clubfoot;early onset varicose veins;arteriovenous, carotidcavernous etc. Kyphosc oliosis Arthroca lasia Dermato sparaxis AR VI Joint laxity, severe hypotonia at birth, scoliosis, progressive scleral fragility or rupture of globe. AD AR V II A/B VII C Congenital bilateral dislocated hips,severe joint hypermobility, recurrent subluxations Severe skin fragility; saggy, redundant skin Tissue fragility,easy bruising, arterial rupture,marfanoid, microcornea,osteopenia, positive familyhistory (affected sibling) Skin hyperextensibility, tissue fragility with atrophic scars,muscle hypotonia, easy bruising,kyphoscoliosis, mild osteopenia Soft, doughy skin; easy bruising; premature rupture of membranes; hernias
22 Ehlers- Danlos and the cornea Common ocular manifestations: Dry eyes, keratoconus, Epicanthal folds, high myopia, Astigmatism, Strabismus, Ambylopia, blue sclera, microcornea Serious ocular involvement: Dislocated lens, Retinal detachment Corneal rupture Brittle cornea syndrome Peter Beighton, BJO 1970,54 Sharma et al. Indian Jnl.of Opthalmology 2003;51 Albrecht Von Graefes Arch Klin Exp Ophthalmol Dec 31;204(4): Zlotogora J et al.am J Med genetics 1990
23 Conclusion : Bilateral corneal opacities with resulting photophobia causing her to keep her eyes closed. In a setting of EDS/BCS- caused by minor trauma. Treatment: Lubrication with which she was able to open her eyes for short periods of time. Continued treatment with Cyclosporine LA/Flaxseed oil/vitamin A Flash visual evoked potential showed normalp2 latencies with reduced amplitudes
24 What is keeping her head flexed? Torticollis secondary to an unstable atlantoaxial joint /atlanto-axial dislocation Atlantoaxial instability: Case reports in Ehler Danlos syndrome Due to generalised laxity of ligaments Awasthy N, Jnl of Pediatric neurosciences, 2008 Bhatia S J, J Assoc Physicians of India, 1990 Philips WA, The cervical spine, 1998, Halko G.J, Jnl of Rheumatology, 1995
25 Treatment Cervical traction Analgesia Able to keep her head upright immediately after completion of traction but returned to predominantly flexed position later. Defenitive surgery
26 Neurological manifestations The bilateral cerebellar and cerebral atrophy Neurological manifestation varied in Ehlers- Danlos Cerebrovascular disease, peripheral neuropathy, Subependymal heterotopias, epilepsy Cerebellar atrophy Abnormal CT findings in patients with ED Mathew et al Neurology India, Sept 2005 Hagino H et al, Neuroradiology, Sept 1985
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