ehler danlos syndrome
TRANSCRIPT
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Dr Nisha George , Sundaram Medical Foundation Children’s HospitalChennai
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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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No history of trauma, feverNo seizures or alteration in consciousnessNo change in routine activity
Only child to parents in a consanguinous marriage (parents are cousins)
Born normally , Birth weight: 2750gmNeonatal period : Uneventful Not ‘loose’ on handlingDevelopment: Normal No significant past history
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On examinationAlert, talks in response,Wt: 12.58Kg (3th cent) Ht: 100cm (50th cent), Arm span:100cmUS/LS ratio: 1:1 HC: 52cm , dolicocephalic Dysmorphism Flat facies, depressed nasal bridge, Hyperextensible joints- elbow, wrist , knee,
ankle
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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
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Sensory examination to touch and pain normal
Joint position sense normal
No cerebellar signsTorticollis presentWhen pulled up in the supine position no
head lag When lying supine head extends but child in
pain.
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Investigations
Hb:11.4gm/dlWBC and platelet counts : normalElectrolytes: normalESR and CRP normalCPK normalANA and DSDNA negative
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Ophthalmologic examinationPrevious examination: Blue sclera
Small cornea, dry mucosaCorneal opacities both eyesNormal fundusNormal intraocular pressures
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ImagingMRI 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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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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Connecting the dots…MicrocorneaCorneal opacitiesHyper extensible joints
Ehlers- Danlos syndrome
Brittle cornea syndrome Marfans syndrome Osteogenesis imperfecta
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Ehlers- Danlos syndromeBrittle cornea syndrome
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Ehlers-Danlos syndromeA 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 1908. - Delineated the phenotype
‘Indian Rubber man’, The Elastic Lady," and "The Human Pretzel.”
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Pathophysiology: Various abnormalities in the synthesis and
metabolismof 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
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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 1997.Type In
hPrev
Major Minor
Classic AD I/II Skin hyperextensibility,wide atrophic scars,joint hypermobility
Smooth, velvety skin; easybruising; molluscoidPseudotumors 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
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Type I Prev
Major criteria Minor criteria
Vascular
AD IV Thin, translucent skin;arterial/intestinal fragilityor rupture; extensivebruising; characteristicfacial appearance.
hypermobile small joints;tendon/muscle rupture; clubfoot;early onset varicose veins;arteriovenous, carotid-cavernous etc.
Kyphoscoliosis
AR VI Joint laxity, severehypotonia at birth,scoliosis, progressivescleral fragility orrupture of globe.
Tissue fragility,easy bruising, arterial rupture,marfanoid,microcornea,osteopenia,positive familyhistory (affected sibling)
Arthrocalasia
AD V II A/B
Congenital bilateraldislocated hips,severe joint hypermobility,recurrent subluxations
Skin hyperextensibility,tissue fragility with atrophic scars,muscle hypotonia,easy bruising,kyphoscoliosis, mild osteopenia
Dermatosparaxis
AR VII C
Severe skin fragility;saggy, redundant skin
Soft, doughy skin; easy bruising; premature ruptureof membranes; hernias
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Ehlers- Danlos and the corneaCommon ocular manifestations:Dry eyes, keratoconus, Epicanthal folds, high
myopia,Astigmatism, Strabismus, Ambylopia, blue sclera, microcornea
Serious ocular involvement:Dislocated lens, Retinal detachmentCorneal ruptureBrittle cornea syndrome
Peter Beighton, BJO 1970,54Sharma et al. Indian Jnl.of Opthalmology 2003;51Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1977 Dec 31;204(4):235-46Zlotogora J et al.AM J Med genetics 1990
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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
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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, 1990Philips WA, The cervical spine, 1998, 317-24Halko G.J, Jnl of Rheumatology, 1995
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Treatment Cervical tractionAnalgesia
Able to keep her head upright immediately after completion of traction but returned to predominantly flexed position later.
Defenitive surgery
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Neurological manifestationsThe bilateral cerebellar and cerebral atrophy
Neurological manifestation varied in Ehlers- Danlos
Cerebrovascular disease, peripheral neuropathy, Subependymal heterotopias, epilepsy Cerebellar atrophyAbnormal CT findings in patients with ED
Mathew et al Neurology India, Sept 2005Hagino H et al , Neuroradiology , Sept 1985
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