Infeksi Torch

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Transcript of Infeksi Torch

The

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case records of the massachusetts general hospitalFounded by Richard C. Cabot Nancy Lee Harris, m.d., Editor Eric S. Rosenberg, m.d., Associate Editor Jo-Anne O. Shepard, m.d., Associate Editor Alice M. Cort, m.d., Associate Editor Sally H. Ebeling, Assistant Editor Christine C. Peters, Assistant Editor

Case 8-2011: A 32-Year-Old Woman with Seizures and Cognitive DeclineKatherine B. Sims, M.D., Andrew J. Cole, M.D., Janet C. Sherman, Ph.D., Paul A. Caruso, M.D., and Matija Snuderl, M.D.

Pr e sen tat ion of C a seFrom the Departments of Neurology (K.B.S., A.J.C., J.C.S.), Psychiatry (J.C.S.), Radiology (P.A.C.), and Pathology (M.S.), Massachusetts General Hospital; and the Departments of Neurology (K.B.S., A.J.C., J.C.S.), Radiology (P.A.C.), and Pathology (M.S.), Harvard Medical School both in Boston. N Engl J Med 2011;364:1062-74.Copyright 2011 Massachusetts Medical Society.

A 32-year-old woman was seen in the neurogenetics clinic at this hospital because of seizures and cognitive decline. Absence seizures (staring spells) had reportedly begun when the patient was approximately 5 years of age, and atonic seizures (sudden loss of muscle tone resulting in dropping of the head and falling to the floor) had begun during adolescence. She briefly received an unknown medication for atonic seizures in childhood. When she was in her mid-20s, she began to have frequent episodic tremors at rest that worsened with action, occasional ballistic (sudden and jerking) movement of the arms, slowed speech, progressive difficulties with memory, and diminished reading comprehension, concentration, and sequence recall. At the age of 28 years, generalized tonicclonic seizures lasting 1 to 15 minutes developed and increased in frequency, occasionally requiring hospitalization. Anticonvulsants were administered. When the patient was 29 years of age, after the onset of generalized seizures, 24-hour video electroencephalography (EEG) was performed at another institution. The results showed normal background and generalized high-voltage bursts of spike-wave and polyspike discharges at a rate of 3 per second. These discharges were more prominent with hyperventilation and photic stimulation, with a frequency of 1 to 2 per second. Her responses to a personality assessment inventory at that time were thought to indicate a high level of psychological distress and suggested an attempt to portray herself in a negative light; however, scores on scales that were sensitive to psychotic and paranoid thinking were more elevated than those on scales that were sensitive to depression, as is typically seen in a cry for help profile. When she was 31 years of age, neuropsychological testing showed weaknesses in the domains of language, attention, executive functioning, and memory. No tests of mood or personality were administered. Cranial magnetic resonance imaging (MRI) without magnetic resonance spectroscopy was performed elsewhere 8 months before this evaluation and was reportedly normal. On the initial visit to the neurogenetics clinic, the patient was accompanied by a family member who assisted with the history. The patient had had increasing myoclonic seizures during the preceding weeks. She had normal early development

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and average academic performance, and she attended college but did not graduate. She reported that she had a history of migraine headaches, occasional shortness of breath, nausea, weight fluctuations, depression for which she had been hospitalized, and a remote history of alcohol abuse. She lived with her partner of many years. She had taught art classes intermittently but was currently receiving disability payments. Psychoactive medications had included fluoxe t ine, risperidone, olanzapine, and donepezil. Current medications included levetiracetam, lorazepam, fluoxetine, zonisamide, phenobarbital, and olanzapine, with zolpidem at night. She reported that she had smoked cigarettes heavily for 15 years, drank alcohol rarely, and did not use illicit drugs. Her father had seizures that began at 30 years of age, was hospitalized in a vegetative state for many years, and died at 48 years of age. Four of his siblings had intractable epilepsy, dementia, and early death. On examination, the patient was alert and oriented, with a flushed face. The blood pressure and pulse were normal. There were no dysmorphic features, and the general physical examination was normal, with no cutaneous pigmented lesions, hepatosplenomegaly, or bone abnormalities. On neurologic examination, she followed all commands; she had slow, hesitant speech with occasional paraphasic errors, decreased attention and concentration, and deficits in short-term memory. Her ability to copy intersecting pentagons was mildly impaired. She reported pain with eye movements; and horizontal movements were full, ocular pursuit movements were smooth, and refixation was normal. Vertical eye movements were not full, and no retinal abnormalities were noted. Visual acuity was normal. Motor movements were initiated slowly. Tone was normal, without dystonia. There was no focal motor weakness, major sensory deficit, dysmetria, or ataxia. There was no tremor; there were occasional myoclonic jerks but no atonic postural loss. No overt seizures were noted. Three months later, a skin biopsy was performed; the pathological examination revealed no evidence of lysosomal storage disease. The results of selected genetic and metabolic tests were normal. During the next 18 months, the patient was followed by a neurologist near her home, and

she returned to the neurogenetics clinic at regular intervals. She had headaches of increasing frequency and progressive cognitive decline, with slower mentation and increasing difficulties with short- and long-term memory. Despite the cognitive decline and extremely slow expressive language and processing, she continued to have a sense of humor. She had increasing seizure activity, with generalized tonicclonic and atonic seizures, myoclonus and ataxia, and episodes of tremor. Her gait became shuffling, and decreasing mobility and balance made her wheelchair-dependent. She was hospitalized on several occasions because of frequent and intractable myoclonic seizures. Anticonvulsant medications during that period included lamotrigine, pyridoxine, zonisamide, lorazepam, levetiracetam, pheno barbital, topiramate, donepezil hydrochloride, phenytoin, clobazam, and diazepam rectal gel. Smoking-cessation counseling was offered, but the patient declined. Eighteen months after her initial evaluation, cranial MRI revealed mild cerebral and cerebellar atrophy and mild periventricular hyperintensities on fluid-attenuated inversion recovery images, with normal magnetic resonance spectroscopy and magnetic resonance perfusion. Neuroophthalmologic examination showed no abnormalities. Neurologic examination showed stuttering speech, marked cogwheel rigidity, decreased rapid alternating movements, and mild dysmetria on finger-to-nose testing; no myoclonus was noted. An EEG was abnormal, showing generalized background slowing during brief wakefulness, as well as bifrontal spikes during sleep, without associated clinical symptoms. There were no electrographic seizures. One month later, while the patient was alone and smoking, her shirt caught fire, and she sustained second- and third-degree burns to her face, neck, chest, and shoulders, with an estimat ed 15% of the total body involved. She was taken to another hospital, where intravenous fluids and tetanus toxoid were administered, the trachea was intubated, and mechanical ventilation was initiated. She was transferred to this hospital, where sedatives, anticonvulsants, glucocorticoids, magnesium, potassium, calcium, albumin, folate, thiamine, dalteparin, enteral nutrition, and inhaled ipratropium were administered. Topical wound care was provided, and skin grafting was per-

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formed. Pneumonia due to methicillin-resistant Staphylococcus aureus developed. On the 10th day, in consultation with the family and her partner, and in accordance with the previously expressed wishes of the patient, comfort measures only were instituted. Mechanical ventilation was discontinued, and the trachea was extubated. The patient died shortly thereafter. An autopsy was performed.

Differ en t i a l Di agnosisDr. Katherine B. Sims: As the patients neurologist, I am aware of the diagnosis. The patient had a normal birth and early neurodevelopmental history. There was no history of central nervous system infection, clinically significant head trauma, childhood developmental regression, or deterioration under metabolic stress. The patient had a history suggestive of childhood absence epilepsy. Childhood absence epilepsy (Online Mendelian Inheritance in Man [OMIM] number 600131) and juvenile absence epilepsy (OMIM number 607631) are common idiopathic generalized epilepsies (OMIM number 600669).1,2 Distinguished by the age at onset, both childhood absence epilepsy and juvenile absence epilepsy feature absence, early-morning, generalized tonicclonic, and myoclonic seizures. A number of genes or susceptibility loci have been identified.3,