Syndromes

Dresslers syndrome -Pleural effusion in MI after 2 weeks

Munchausen Syndrome-Hospital addiction

Chediak Higashi Syndrome-Microtubule polymerization defect resulting in decreased phagocytosis.

Kartagener’s syndrome- Immotile cilia due to dynein arm defect.

Eaton Lambert Syndrome-Auto antibodies against calcium channels,clinically similar to myasthenia.

Cushings Syndrome- Elevated levels of cortisol due to any cause, whereas cushings disease is increase in ACTH due to primary pituitary adenoma.

Waterhouse Friedrichson Syndrome- Acute adrenal insufficiency due to adrenal hemorrhage a/w meningococcal septicemia.

Sheehan’s syndrome – Pituitary necrosis following postpartum hemorrhage.

Reyes syndrome - Fatal childhood hepatoencephalopathy due to viral infection that has been treated with aspirin.Hypoglycemia,coma,fatty liver(microvesicular)

Budd Chiari Syndrome- Occlusion of IVC or  hepatic veins with centrilobular congestion and necrosis.

Gaisbock’s Syndrome-Relative Polycythemia

Von Hippel Lindau Syndrome-cerebellar hemangioblastoma.

Kippel fiel syndrome-Fusion of cervical vertebrae

Stewart treves syndrome- Lymphangiosarcoma developing in lymhedematous arm after radical mastectomy.

Gradenigo syndrome- Triad of Otitis media,Retrobulbar pain,Ipsilateral abducens palsy.

Plummer vinson syndrome/Paterson brown kelly syndrome-Combination of symptomatic hypo pharyngeal webs and iron deficiency anemia in mddle aged female.Radiological finding-web in post cricoid region,may develop post cricoid ca.Iron given orally.

Lynch syndrome- Endometrial ca,Colon Ca,Ovarian Ca

Balint’s syndrome- State of severe spatial disorientation.Oculomotor apraxia,Optic ataxia,Simultanagnosia,bilateral parietal lobe involvement(OOPS!)

Midbrain 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-

  1. Lentigens
  2. ECG abnormalities-primary conduction defects
  3. Ocular hypertelorism
  4. Pulmonary stenosis and subaortic stenosis
  5. Abnormal genitalia-cryptorchidism hypospadiasis
  6. Retardation of growth
  7. 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 appearence

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 syndrome is 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 syndrome is 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 deafness, prolongd QT n arrhythmia

senear-Usher syndrome is pemphigus erythematosus; a localized variety of pemphigus foliaceus confined to seborrheic sites

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