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Author: admin | 06.06.2014 | Category: Tinnitus Causes And Treatments

1Intervention Cardiologist, 2Director Cardiac Cath Lab., Bombay Hospital Institute of Medical Sciences, New Marine Lines, Mumbai.
Complete heart block has a varied aetiology; commoner being ischaemia and senile degeneration of AV node. An 18 year old male presented with complaints of giddiness associated with blurring of vision for one day. Single chamber (VVI mode) permanent pacemaker (Medtronic) was inserted by making a right infraclavicular pocket and rate was kept at 70 bpm. Kearns Sayre syndrome is a mitochondrial inherited multisystem disorder affecting multiple organ system which usually presents before 20 years of age.
Presentation is usually with gradual onset muscle weakness, dysphagia, hearing loss, difficulty of gait.
Cardiovascular involvement includes AV blocks, fascicular blocks, LV dysfunction secondary to prolonged Right Ventricular (RV) pacing, heart failure. Looking carefully at the ECG of the patient it can be noticed that our patient also had involvement of sinus node as his sinus rate (i.e corresponding AA interval) was also lesser than expected and it was actually 40 beats per minute. He was advised for periodic follow ups for the pacemaker interrogation at routine interval and was told to follow up at ophthalmology opd (for ptosis correction), ENT opd for possibility of hearing aid. NEPHROTIC SYNDROME ? The nephrotic syndrome is caused by renal diseases that increase the permeability across the glomerular filtration barrier ? Two issues are important in the pathogenesis of nephrotic syndrome: the mechanisms of glomerular injury and proteinuria. Proteinuria ? changes to capillary endothelial cells, the glomerular basement membrane (GBM), or podocytes, which normally filter serum protein selectively by size and charge. Chronic complications of NS ? malnutrition in children, ? coronary artery disease in adults, ? chronic renal failure, and bone disease. Chronic complications of NS ? Bone disease develops because of vitamin D deficiency and corticosteroid use. Symptoms and Signs ? anorexia, malaise, and frothy urine caused by high concentrations of protein.
Diagnosis ? suspected in patients with edema and proteinuria on urinalysis and confirmed by 24-h measurement of urinary protein. Renal Bx ? In adults, a renal biopsy is indicated to diagnose the underlying cause of idiopathic NS.

NEPHRITIC SYNDROME Defined by hematuria and RBC casts on microscopic examination of urinary sediment. Components of ?Nephritic Syndrome Often one or more elements of mild to moderate proteinuria, edema, hypertension, elevated serum creatinine, and oliguria are also present. Tendencies of glomerular diseases to manifest Nephritic Features Proliferative GN(SLE) Acute diffuse proliferative GN (Post Step.
Asymptomatic glomerular hematuria No pathologic abnormality (30%) Thin basement membrane (26%) Ig A nephropathy (28%) Alport syndrome ( rare ? Alport's Syndrome Hereditary nephritis is a genetically heterogenous disorder characterized by hematuria, impaired renal function, sensorineural deafness, and ocular abnormalities. Alport's Syndrome ? Because of X-linked transmission, women usually are asymptomatic and have little functional impairment.
Alport's Syndrome ? Diagnosis is suggested by personal and family history and by findings of microscopic hematuria on urinalysis or recurrent episodes of gross hematuria, particularly if abnormalities of hearing or vision are present.
In this article we report a case of complete heart block (AV nodal) in patient of Kearns Sayre Syndrome who has incidently SA node disease also which is further rarer in this disorder. The patient was advised physiotherapy for proximal myopathy to be started after healing of pacemaker pocket wound and was planned for surgical ptosis correction at sometime in near future. It affects eye (ophthalmoplegia, pigmentary retinopathy, cataract, etc), nervous system (ataxia, sensorineural hearing loss), musculoskeletal system (proximal myopathy, ptosis), cardiovascular (AV blocks), Endocrine (including diabetes) and so on and so forth. It can be acute like high grade AV blocks including complete heart block presenting with presyncope (as in our case) or frank syncope.
There have been a few reports of even sinus node dysfunction and prolonged sinus pauses.4 Non specific ST-T changes and T wave changes have also been described. So the ideal therapy for him would have a dual chamber pacemaker say DDD type; but due to financial constraints single Chamber (VVI) pacing was done. Malnutrition may mimic kwashiorkor, including brittle hair and nails, alopecia, and stunted growth. The cause may be suggested by history (eg, cancer); when the cause is unclear, serologic testing and renal biopsy are indicated. ENT opinion was taken for possible correction of sensorineural deafness so as to improve his quality of life.

Acute encephalopathy is a known presentation (differential diagnosis here will be [MELAS (Mitochondrial Encephalopathy Lactic Acidosis Stroke)].
Coronary artery disease develops because NS causes hyperlipidemia, hypertension, and hypercoagulability.
Symptoms and signs are those of nephritic syndrome with sensorineural deafness and, less commonly, those of ophthalmologic diseases. His atrial rate was around 40 bpm but both atria and ventricular rate were dissociated in rhythm. Injection atropine one ampoule was given but without much variation in heart rate and without improvement in symptoms. Fluid boluses were repeated along with repetation of atropine but heart rate rose to 44 with patient being still symptomatic.
So Immediate temporary transvenous pacing (Bard pacing wire) was done through right femoral route and patient was stabilised haemodynamically.
General physical examination revealed significant finding in the form of severe bilateral ptosis and complete external ophthalmoplegia. Generalised muscle wasting was present with power in proximal muscle group lesser than distal. Special investigation showed bilateral pigmented retinopathy, bilateral sensorineural deafness, normal echocardiographic findings.
Blood investigation showed elevated CPK enzymes (with normal MB fraction), normal lactate levels. Based on these investigations we suspected probably we are dealing with multisystem disease.
We thought of some possibility of Duchennes (DMD) and Beckers Muscular dystrophy (BMD) but the natural history of these diseases include early presentation (first decade of life) and rarely the patient survives to late second decade or third decade of life plus there was no calf pseudohypertrophy in our case which was a strong point against DMD and BMD so it was almost excluded.
Patient had no diurnal variation of ptosis so Myasthenia Gravis was also excluded almost with certainty (Figures 1, 2, 3, 4 and 5).

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