2009年8月4日 星期二

怪怪洋名「辛左恩」–Syndrome

* Anton syndrome–雙側occipital infarction後仍聲稱可見到東西

* De Morsier syndrome (Septo-optic dysplasia)
Optic nerve hypoplasia
Midline CNS deformation
→ Absent pellucidum , corpus callosum agenesis
Pituitary dysfunction
→ Pituitary dwarfism , hypothyroidism

* Balint syndrome→會有optic ataxia(無法將眼球移到想看到的物體上),主要的lesion在post. parietal lobe

* Charks, Bonnet syndrome–hallucination和partial visual loss有關

* Crouzon syndrome:Brachycephaly (bilateral suture closure)
 有proptosis, midface hypoplasia,造成malocclusion
 有突眼 → corneal ulcer稱為parrot break,無syndactyly!

* Down syndrome:Trisomy 21

* Foster-Kennedy syndrome:由IICP造成optic atrophy,視力正常

* Pseudo-Foster-Kennedy syndrome (PFK syndrome):一眼出現atrophy,另一眼disc edema,則稱之。AAION造成之PFK syndrome,會影響視力。

* Gerstmann syndrome:看東西只看一半(hemineglect),無法分辨數字→dominant parietal lobe lesion

* Kohn-Ramono syndorme: 3q13, AD. ptosis, microcornea, strabismus, deofrmed ear, blepharophimosis, epicanthus inversus

* Klippel-Trenaunay-Weber syndrome:Sturge-Weber syndrome有trunk侵犯者稱之。
* Lowe syndrome (Oculocerebral syndrome):會有眼病變(白內障)、腎病變(血尿蛋白尿等)、腦病變(metal retard),X-link。

* Louis-Bar syndrome: Ataxia-telangiectasia (AR),在Chr. 11,與DNA repair有關,Leukemia, lymphoma機會也會上升

* Mobius syndrome
 Lesion在pons
 Aplasia of 6th nerve nucleus及雙側facial palsy,
 6th n. nucleus不僅管同側眼球abduction,同時還透過MLF管對側的adduction

* Parinaud syndrome(即Pretectal syndrome/ dorsal midbrain syndrome)
 lid retraction (Collier)
 convergence-retraction nystagmus
 saccadic paresis of upgaze (absent upgaze)

* Riley-Day syndrome又叫familial dysautonomia
=> 即先天性的自律神經失調,會有tear production減少及neurotrophic keratitis的情形;造成corneal dryness→recurrent corneal erosion→ cornea scarring

* Sturge-Weber syndrome(Cerebrofacial angiomatosis )會有POAG, seizure,Port-wine, choroidal hemangioma, cerebral calcification。

* Wallenberg syndrome:Vestibular imbalance來自stroke of lateral medulla

* Wyburn-Masson syndrome (Racemote angioma)。病理: intracranial + retinal AVM,非遺傳,好發optic disc, retina血管不會leak。

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