Friday, 3 January 2014

Syndromes

Mid Brain Syndromes

-Benedikt’s-Ipsilateral Oculomotor palsy and CL tremors,chorea,athetosis.Injury to red nucleus

-Nothnagel’s-IL 3rd N palsy and CL cerebellar ataxia.Due to superior cerebellar peduncle injury

-Claude’s-Benedikt’s+Nothnagel’s

- Webers-IL 3rd N palsy with CL hemiplegia.Due to cerebral peduncle injury.

Pontine syndromes

Foville-  Lateral gaze palsy,ipsilateral facial palsy,CL hemiparesis.Dorsal pontine injury.
Millard Gubler- Similar to Foville,but only LR palsy.Ventral pontine injury.

Reymond Cestan Syndrome
Eaton Lambert’s myasthenic syndrome-Autoimmune disorder that affects voltage-gated calcium channels on the pre-synaptic membrane of the neuromuscular junction. Repeated stimulus improves response and invokes contraction.
Blindloop syndrome-
Short bowel syndrome-

LEOPARD syndrome-
Lentigens
ECG abnormalities-primary conduction defects
Ocular hypertelorism
Pulmonary stenosis and subaortic stenosis
Abnormal genitalia-cryptorchidism hypospadiasis
Retardation of growth
Deafness-sensorineural

Wunderlich syndrome – spontaneous, nontraumatic renal hemorrhage confined to the subcapsular and perirenal space. It may be first manifestation of a renal angiomyolipoma (AML). Massive hemorrhage is seen.

kostman sundrome-absolute neutrophil count (ANC) chronically less than 500/mm3
leriche syndrome—impotence,pain in thigh and buttock both sides on walkng(claudication),absent or weak lower limb pulses,bruit over iliac region.cause is aorto iliac obstruction.

joubert’s syndrome-bat wing deformity of the ventricles seen,vermis absent,molar tooth appearance

Irvine-Gass Syndrome -Fluid accumulation within the sensory retina in the macular area,triad of vitreous touch,bullous keratopathy and cystoid macular oedema

Mirizzi syndrome– obstruction of biliary duct d/t stone impacted in hartmann’s pouch or cystic duct.

Potters syndrome-B/l renal agenesis. Condition is incompatible wit extrauterine life and death is mc d/t pulmonary hypoplasia

Cat eye syndrome-Partial Trisomy (22pter-22q11)

Lady Windermere syndrome is mycobacterium avium complex pulmonary disease described in fastidious elderly women in the dependent portion of the lingula or the right middle lobe due to proposed habitual voluntary suppression of cough leading to the development of nonspecific inflammatory processes in these poorly draining lung regions – upon which MAC-PD engrafted.

Alagille syndromeis inherited cholestatic syndrome – associated with biliary hypoplasia (ductopenia) – vertebral anomalies – prominent forehead – deep-set eyes – peripheral pulmonic stenosis.

Rubinstein-Taybi syndrome is congenital condition characterized by mental and growth retardation – short broad thumbs and/or halluces – and typical facial features.

Poland syndrome is amastia associated with hypoplasia of ipsilateral musculature (microsyndactyly or lack of one hand) and chest wall (atrophy of the ipsilateral pectoralis major) and GU abnormalities; 10% have dextrocardia or dextroversion.

Li-Fraumeni syndromeis mutant p53 allele inherited – predisposition toward breast carcinomas – sarcomas – leukemia – brain tumors – and adrenocortical carcinoma; half have tumors before age 30 – 70% before age 90.

Gerstmann-Straussler-Scheinker syndrome is slow central nervous system disease – hereditary as well as transmissible prion disease with same mutation – point mutation in codon 102 of prion protein as CJD; characterized by cerebellar dysfunction with multiple plaques.

Benedikt syndrome– clinical picture from paramedian midbrain infarction from occlusion of the paramedian penetrating branches of the basilar artery affecting the third nerve root fiber – red nucleus – cerebral peduncle resulting in ipsilateral medial rectus palsy with a fixed dilated pupil and contralateral tremor – chorea – and athetosis.

Meckel-Gruber syndrome–sloping forehead – posterior encephalocele – polydactyly – and polycystic kidneys.

Jorvell and Lange Neilson syndrome- potasium chanellopathy,Consists of deafnes

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