@entity2383 are a group of diseases that can affect virtually all organ systems. A 19 year old @entity1 was seen in 1993 with @entity16 consisting of impaired function of muscles, @entity892 , progressive @entity1018 , impaired phonation and swallowing, during the last 10 years. Physical examination disclosed moderate wasting of the four limb muscles, mild @entity425 muscles, symmetrical @entity427 , @entity76 , severe external ophtalmoplegia and @entity1736 . Fundii oculi examination showed @entity6391 . The electromyogram demonstrated myopathic changes with normal nerve conduction velocities. The cerebrospinal fluid was normal, except for a mild increase in @entity880 . Histochemical study of a muscle biopsy specimen demonstrated ragged red fibers and increase of the subsarcolemal oxidative activity of mitochondriae. The diagnosis of @entity12295 was confirmed and he was discharged advising physical therapy. On February 1995, he was again admitted, this time with right @entity712 and worsening of all his previous symptoms and signs. He complained of @entity925 and his @entity425 was more striking on clinical examination. Echocardiography showed @entity384 and @entity4346 with preserved systolic function. A new muscle biopsy revealed an heteroplasmic deletion of 5 Kb with 80% of mutant mitochondrial DNA. In brief, we report a @entity1 with the clinical phenotype of @entity12295 who presented an acute @entity712 due to @entity296 , an association which has seldom been, reported in the literature.

[Severe @entity712 in XXXX ].

@entity1 :: ('9606', 'Species') :: ['patient', 'man'] @entity1018 :: ('MESH:D054062', 'Disease') :: ['loss of vision'] @entity712 :: ('MESH:D006333', 'Disease') :: ['cardiac failure', 'congestive cardiac failure'] @entity296 :: ('MESH:D009202', 'Disease') :: ['cardiomyopathy'] @entity384 :: ('MESH:D002311', 'Disease') :: ['biventricular dilatation'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurologic abnormalities'] @entity12295 :: ('MESH:D007625', 'Disease') :: ['Kearns-Sayre disease', 'Kearns-Sayre syndrome'] @entity425 :: ('MESH:D018908', 'Disease') :: ['motor weakness of neck', 'muscle weakness'] @entity6391 :: ('MESH:D012174', 'Disease') :: ['retinitis pigmentosa'] @entity925 :: ('MESH:D063806', 'Disease') :: ['myalgias'] @entity4346 :: ('MESH:D017379', 'Disease') :: ['left ventricular hypertrophy'] @entity76 :: ('MESH:D002526', 'Disease') :: ['cerebellar dysfunction'] @entity880 :: ('MESH:D019344', 'Chemical') :: ['lactic acid'] @entity892 :: ('MESH:D004172', 'Disease') :: ['diplopia'] @entity1736 :: ('MESH:D001763', 'Disease') :: ['ptosis'] @entity427 :: ('MESH:D012021', 'Disease') :: ['hyporeflexia'] @entity2383 :: ('MESH:D028361', 'Disease') :: ['Mitochondrial disorders']
@entity12295 :: (MESH:D007625,Disease) :: ['Kearns-Sayre syndrome']
