Case 7. Разбитые коленки.

Демонстрация и обсуждение клинических случаев

Модераторы: Ren_Yumi, AOkhotin, Pyankov Vasily, Алексей Живов, Alon, dr.Ira

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Alon
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Case 7. Разбитые коленки.

Сообщение Alon »

A colleague, an emergency medicine physician, asks you to see a perplexing 10-year-old. Although the referral was made for evaluation of sore knees, the history is far from simple. The young man has a long history of poor school performance and multiple daily episodes of suddenly falling down. The falls have been labeled "drop attack epilepsy" by a pediatric neurologist and have continued despite daily anti-epileptic medication. The falls, in fact, are the cause of the bruised, painful knees, which have prompted several visits to the emergency department. Before scheduling an appointment to see the boy, you request all available medical records.

In the meantime, you cast your mind over what you know about "drop attacks" or "akinetic seizures." As you recall, patients with these attacks suddenly lose consciousness and postural tone, resulting in falls to the ground, which often cause injuries to the head. You also recall that this type of epilepsy is difficult to treat. It is often associated with other types of seizures and, frequently, with neurologic problems and mental retardation. Could this boy have the Lennox-Gastaut syndrome, characterized by severe retardation, many types of seizure including drop attacks, and a fairly typical EEG tracing?

Later that day, the young man's medical records arrive. Because of his poor school work, he had been diagnosed with attention deficit hyperactivity disorder (ADHD) and started on dextroamphetamine (Dexedrine) each morning. Unfortunately, the drug was of little help. For the past three to four years he has fallen down several times a day, but "drop attack" epilepsy was not diagnosed until 18 months ago.

Laboratory evaluation has included CT and MRI scans of the head, both normal, and an EEG that was read as abnormal because of the presence of "polyspikes." He was even referred elsewhere for a cerebral SPECT (single proton emission computed tomography) scan of the head, which was read as showing "decreased activity in the right prefrontal cortex and increased activity in the anterior cingulate gyrus." The interpretation offered was: "These findings are often indicative of a mood disorder, attention problems, and negative thoughts or behavior." Hmmm--interesting but not particularly helpful. You also look over the results of blood, urine, and serum chemistry tests, often repeated and all normal. Treatment has included valproic acid (Depakote), which resulted in a severe rash and was not helpful, and carbamazepine (Tegretol), which actually made the drop attacks worse.

There is no indication of mental retardation, which is present in most cases of Lennox-Gastaut syndrome, so that thought is probably not the explanation. Curious that the drop attacks result in sore knees rather than a "sore head," which is more typical with these attacks. Affected children often have to wear protective head gear.

The next morning the young man and his mother arrive at your office. He is pleasant and seems, at first glance, perfectly normal. His mother tells you that her pregnancy was unremarkable, and her son's developmental milestones were reached at the appropriate ages. He is currently in the fourth grade, in a regular class, but below grade level, which the mother attributes to the ADHD. Family history is distressing; the father has an inoperable anaplastic brain tumor and the boy's sibling has emotional problems and epilepsy.

You ask the mother about the drop attacks. She confirms that they started three to four years ago but have become more frequent in the past 18 months, now occurring up to eight times a day! Stress seems to increase their frequency. If the boy is walking or running and is excited, he may suddenly "crumple down," collapsing and falling to his knees. He is no longer allowed to take part in sports and has been removed from the school basketball team, his favorite.

His mother also relates that her son has a difficult time falling asleep at night, which she blames on the Dexedrine. As a result he is tired during the day, "nodding off" for short periods of time in class. You ask the boy whether he is aware of his drops or falls. The affirmative answer seems strange for an epileptic seizure.

You complete the history and perform a physical examination. Everything is unremarkable except for the knees, which are black and blue with bruises and tender to palpation.
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Какие будут соображения?
Всего наилучшего, Алон
dr.Ira
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Сообщение dr.Ira »

Ну, в общем, это, конечно, не эпилепсия...А что? Пошла читать про нарушения сна.
Делай, что должен, и будь, что будет.
Alon
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Сообщение Alon »

Интересно, что ребенок уже получил свою долю амфетаминов. :)
Всего наилучшего, Алон
AOkhotin
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Сообщение AOkhotin »

Катаплексия? Нужна полисомнография.
с уважением, Артемий Охотин

Телеграм-канал Вальсальва: https://telegram.me/valsalvaru

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Alon
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Сообщение Alon »

You begin to doubt that this is epilepsy. Could something else give these symptoms? The young man has difficulty falling asleep at night and nods off during the day; he suddenly feels weak and falls. Could this be narcolepsy with cataplexy? After a quick review of this disorder, you are convinced it could explain everything. But how to confirm the diagnosis? You send blood for HLA typing, since specific antigens are present in most patients with narcolepsy. You also recommend a sleep study, but the mother asks to delay the testing since she is the sole caretaker for her husband and her ill mother.

As you read a bit more about narcolepsy and cataplexy you are even more convinced that the boy has the disorder. Perhaps a treatment trial while waiting for the HLA testing results would be worthwhile. You prescribe clomipramine HCl (Anafranil) tid and Dexedrine spansules bid, and you recommend a regular bedtime each night. A return appointment is made for eight weeks. Later that day you ask a pediatric neurologist to reread the "abnormal" EEG. He reports that the tracing shows a lot of muscle and electrical artifact resulting in the apparent spikes, but that the EEG appears to be a normal tracing.

On the return appointment eight weeks later, the parents are delighted.They report that within 48 hours of starting Anafranil the "drops" stopped and have not recurred! The mother has reduced the medication to morning and night. In addition, the young man is doing better in school and he is back on his beloved basketball team. The sore, bruised knees have completely healed. The HLA testing supports the diagnosis of narcolepsy with findings of HLA-DRB1*08 and DRB1*15 (DRB*15 is the most common split of DR2) and DQB1*0402 and DQB1*06 antigens. The clinical history, HLA antigen studies, and excellent response to treatment corroborate the diagnosis of narcolepsy with cataplexy. A sleep study will be obtained in the future, when the family crises pass.

Westfall first described narcolepsy over a hundred years ago as a condition with brief episodes of irresistible sleep and sudden falls associated with emotional stimuli.1 The prevalence of the disorder varies: 1 in 600 in Japan; 1 in 1,000 to 10,000 in Europe and the United States; and 1 in 500,000 in Israel. Males and females are affected equally. Retrospective histories of adults with narcolepsy show that symptoms frequently started in childhood, about 50% before age 15. Narcolepsy is often not recognized or is misdiagnosed as ADHD, depression, or personality and seizure disorders. It may also be confused with sleep disorders, particularly idiopathic hypersomnia and obstructive sleep apnea, delaying recognition for years.

The word narcolepsy is derived from the Greek narkosis, a benumbing, and lepsis, a seizure, and describes uncontrollable and paroxysmal sleep. Cataplexy (Greek: kata, down; plexis, a blow or stroke), denoting transient attacks of extreme weakness, a major component of narcolepsy, may be misinterpreted as seizures or other problems. Cataplexy is unique to narcolepsy but may not be present at the onset of the disorder. The troublesome and embarrassing symptoms can have debilitating effects in children, adolescents, and adults.

In addition to the two most important symptoms, sleepiness and cataplexy, the tetrad of narcolepsy also includes sleep paralysis and hypnagogic hallucinations, which occur in about 60% of affected individuals. Sleep paralysis, an inability to move, most commonly occurs as sleep begins or ends, and is brief, lasting about 10 minutes. Hypnagogic hallucinations may occur during sleep paralysis or independently. The hallucinations are most often visual, although they may have auditory or tactile components. Other symptoms that may occur in patients with narcolepsy include automatic behavior (episodes of amnesia associated with semipurposeful activity), disrupted nocturnal sleep, and disturbances of memory and vision. About 70% to 80% of adult patients eventually develop some of these other symptoms, but they are not necessary for the diagnosis.

The diagnosis of narcolepsy must be strongly considered in any patient with excessive daytime sleepiness who also has cataplexy. Some feel that the diagnosis is a clinical one, based primarily on history, but the symptoms are not truly disease specific. Sleepiness may occur in individuals with sleep apnea, chronic sleep deprivation, hypothyroidism, and sedative drug abuse, and in idiopathic hypersomnia. Cataplexy occasionally occurs with Niemann-Pick disease type C, Norrie disease, and with some midbrain tumors.The clinical history can be supported with a Multiple Sleep Latency Test, demonstrating excessive daytime sleepiness, and testing for Sleep Onset REM Periods, which verify the abnormal REM sleep.

Individuals with narcolepsy demonstrate the presence of certain classes of HLA haplotypes on chromosome 6, DR2 and DQ. Although these haplotypes are present in the general population, they are found in over 95% of patients with narcolepsy. Other disorders with excessive sleepiness are not strongly associated with them. However, the HLA­associated gene is not in itself sufficient to cause the condition. Environmental factors are likely to precipitate the disorder in susceptible individuals..Although there is clearly a genetic component, only 8% to 10% of narcoleptic patients can identify family members with the disorder.

Narcolepsy is a life-long disorder. Almost all affected children have psychosocial and academic problems if the diagnosis is not made and treatment not offered. Emotional lability and irritability are common in children and adolescents. Long-term support is necessary if the child, teenager, or adult is to lead a reasonably normal life. Good sleep habits with a regular bedtime are important. Pharmacologic treatment with psychostimulants such as amphetamines, methamphetamine, methylphenidate, and pemoline helps combat daytime sleepiness. A new medication used overseas, modafinil, appears to be promising and should be available in the United States soon.Cataplexy best responds to tricyclic antidepressants including clomipramine HCl.3 The goal of treatment in a child or adolescent is to maintain optimal wakefulness during the important hours of the child's day, such as school and significant social situations, and to let the patient lead as normal a life as possible.

Given the incidence of narcolepsy in the general population, the average pediatrician has a good likelihood of seeing one or more children with this disorder over the course of a practice lifetime. Keep in mind the combination of sleepiness and sudden episodes of weakness, sometimes resulting in falls. Don't be caught napping on this one, or you might fall on your face rather than your knees! *
Всего наилучшего, Алон
Alon
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Сообщение Alon »

Вдогонку.
А вот, что написано в Nelson о Narcolepsy:
Narcolepsy is a primary disorder of excessive daytime sleepiness that affects an estimated 0.05% of Americans. Narcolepsy often presents with symptoms in adolescence, but usually goes unrecognized and undiagnosed until adulthood. In about 25% of cases, there is a family history of narcolepsy; secondary narcolepsy following brain injury or in association with other medical illnesses may also occur. The cardinal and usual initial presenting feature of narcolepsy is repetitive episodes of profound sleepiness that may occur both at rest and during periods of activity (talking, eating, etc.). These "sleep attacks" may be very brief (microsleeps), resulting primarily in lapses in attention and in mood disturbances. Thus, patients with narcolepsy may be initially misdiagnosed with a psychiatric disorder such as ADHD or depression. Other features that may occur in narcolepsy include cataplexy (sudden loss of total body or partial muscle tone, usually in response to an emotional stimulus), hypnogogic (at sleep onset) and/or hypnopompic (on waking) visual, auditory or tactile hallucinations, and sleep paralysis (temporary loss of voluntary muscle control) at sleep onset or offset. The "gold standard" of diagnosis is overnight polysomnography followed by a multiple sleep latency test (MSLT). The MSLT involves a series of opportunities to nap during which narcoleptics demonstrate a pathologically shortened sleep onset latency, as well as periods of REM sleep occurring immediately after sleep onset. The treatment of narcolepsy generally involves a combination of medications to combat daytime sleepiness (stimulants) and REM sleep suppressants to prevent cataleptic attacks.
Всего наилучшего, Алон
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