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Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a disease caused by mutations in the mitochondrial DNA. As such, it is a rare genetic disease in that it can be heteroplasmic, that is, more than one genome can be in a cell at any given time.

Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia a common feature.

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Development of neurologic symptoms in a 26-year-old woman following recovery from methanol intoxication - pulmonary and critical care pearls - putaminal
From CHEST, 10/1/02 by Andrew P. Fontenot

A 26-year-old woman with no significant medical history presented with visual changes and altered mental status 36 h after the ingestion of methanol. On the evening of the ingestion, she reported blurred vision followed by the development of nausea and vomiting. On the following morning, family members noted a worsening mental status and persistent blurred vision, prompting presentation to the emergency department.

Physical Examination

Vital signs were as follows: temperature, 35[degrees]C; pulse, 135 beats/min; respirations, 30 breaths/min; and BP, 160/70 mmHg. Generally, she appeared to be critically ill. Head, eyes, ears, nose, and throat examination revealed round, equal pupils that were sluggishly reactive and 6 mm in diameter. Her lungs were clear to auscultation. Cardiac examination revealed tachycardia without murmurs, gallops, or rubs. Abdominal examination revealed hypoactive bowel sounds without distension. Her extremities showed no cyanosis, clubbing, or edema. Neurologic examination revealed an intact gag reflex, withdrawal from painful stimuli, and 2+ deep tendon reflexes with downgoing toes.

Laboratory Findings

Laboratory findings were as follows: WBC count, 30,800/[micro]L; hemoglobin, 18.3 g/dL; hematocrit, 54%; sodium, 135 mEq/dL; potassium, 5.5 mEq/dL; chloride, 103 mEq/dL; bicarbonate, < 5 mEq/dL; BUN, 21 mg/dL; creatinine, 1.3 mg/dL; anion gap, > 25; osmolal gap, 146; methanol, 86 mg/dL; aspirin, negative; acetaminophen, negative; ethylene glycol, negative; isopropyl alcohol, negative; and arterial pH 6.79. Chest radiography showed no infiltrates. ECG showed sinus tachycardia without ischemic changes.

Hospital Course

Endotracheal intubation was performed for airway protection. An initial head CT scan showed mild cerebral edema (Fig 1, left, A). Treatment included hemodialysis and ethanol infulsion with correction of the acidosis and resolution of the anion gap over the next 18 h. Following extubation, she continued to complain of blurred vision. Her visual acuity was 20/60 bilaterally, and a fundoscopic examination showed bilateral disk swelling and hyperemia. Impairment of recent memory, mild anomia, moderate impaired attention, disinhibited behavior, and lower-extremity tremors were also present. Her cognitive function progressively improved; however, the lower-extremity tremors remained. Repeat head CT scan was obtained 48 h after presentation (Fig 1, right, B).

[FIGURE 1 OMITTED]

What is the most likely diagnosis?

Diagnosis: Putaminal necrosis following methanol intoxication

The CT scan in Figure 1, right, B was obtained 48 h following hospital admission and shows hypo-densities in the putamen (arrow) and the peripheral white matter (arrowhead) consistent with necrosis compared with the initial CT scan (Fig 1, left, A). Methanol poisoning results from the ingestion of methanol-contaminated whiskey and commercially available solvent, such as antifreeze, paint remover, and windshield washer fluid. Ingestion of methanol results in the development of nausea, vomiting, abdominal pain, visual disturbances, and mental status changes after a 12- to 24-h latent period. Metabolic derangements including a severe anion gap metabolic acidosis are commonly present, and permanent neurologic sequelae due to optic neuropathy and putaminal necrosis characterize severe ingestions.

Methanol is rapidly absorbed from the GI tract and is metabolized in the liver by alcohol dehydrogenase to formaldehyde and then by aldehyde dehydrogenase to formic acid, with the majority of toxic effects due to the accumulation of formic acid. Due to the delayed generation of toxic metabolites, a latent period occurs prior to the onset of symptoms and signs of intoxication and the appearance of a profound metabolic acidosis. The mainstay of treatment for methanol intoxication is the administration of ethanol, since ethanol has a 10-fold greater affinity for alcohol dehydrogenase than methanol. Other therapeutic interventions include supportive measures, gastric lavage, correction of acidosis, and occasionally hemodialysis. The indications for hemodialysis include the presence of ocular manifestations, renal involvement, and/or a peak methanol level > 50 mg/dL.

Evidence suggests that survival following methanol ingestion is inversely correlated with the severity of the metabolic acidosis, with a 50% mortality rate in individuals who have a serum bicarbonate level of < 10 mEq/L. There is wide variation in the minimum toxic dose of methanol. This may be related to prior or concomitant ingestion of ethanol, thus decreasing the severity of methanol toxicity. However, alcoholics may be more susceptible to toxicity due to increased alcohol dehydrogenase activity resulting in a more rapid conversion into toxic metabolites.

Putaminal necrosis is a rare but reported complication of severe methanol intoxication. In individuals who survive the initial insult, extrapyamidal symptoms and signs including rigidity, tremors, masked faces, and monotonous speech may develop. These symptoms are usually permanent; however, improvement may occur following levodopa treatment. Recent case reports using CT and MRI have confirmed the unusual location of the pathologic lesion. Discrete regions of necrosis in the white matter have also been identified. Thus, as demonstrated in our case and other case reports, the progression of CT findings from minimal changes to necrosis in the putamen and white matter occurs over a period of 48 to 72 h.

The mechanism responsible for putaminal necrosis remains unknown. It has been postulated that the necrosis results from a decreased blood flow through the basal veins of Rosenthal. However, our patient, as well as others reported in the literature, did not experience hypotension during her course, thus making decreased venous flow less likely. Another possibility is that the necrosis occurs as a direct toxic effect of formic acid with higher concentrations of formic acid accumulating in the putamen compared to other areas of the brain. In addition to its association with methanol ingestion, putaminal necrosis occurs in other disorders such as Wilson disease, Leigh disease, and Kearns-Sayre syndrome. Leigh disease is characterized by a congenital lactic acidosis and symmetrical involvement of the putamen. These findings suggest that the putamen may indeed be more sensitive to an acidic environment than other areas of the brain.

Despite the delay in seeking medical care, our patient survived this critical illness. At follow-up 1 month after discharge, cognitive function had improved, and she had only a mild lower-extremity tremor.

CLINICAL PEARLS

1. Symptoms and signs of methanol intoxication occur after a latent period of 12 to 24 h.

2. The toxic effects of methanol are due to the accumulation of formic acid in the bloodstream.

3. Survival following methanol ingestion is associated with the severity of the metabolic acidosis.

4. Putaminal necrosis is a rare complication of methanol intoxication.

5. Following methanol intoxication, the progression of CT findings from minimal changes to putaminal and white matter necrosis occurs over a period of 48 to 72 h.

6. Head CT scans are useful following methanol intoxication in order to predict long-term neurologic sequelae.