Case 2

Демонстрация и обсуждение клинических случаев

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

Ответить
Alon
Сообщения: 574
Зарегистрирован: Пн мар 19, 2007 11:19 pm
Откуда: Israel

Case 2

Сообщение Alon »

Ну, раз мы уже начали разговор о головных болях и прочих связанных с этим симптомах, то давайте и продолжим. :)
-----------------------------------
It's but a few days after your return from winter break when you are called to the clinic to admit a 16-year-old girl who is complaining of headache and diplopia. Headache is a common presentation in adolescents, but a report of diplopia has you worried.

When you arrive bedside to evaluate your new patient, it's immediately clear that she has lateral-gaze paralysis of the right eye. Worse, she has a 10-day history of headache, which she describes as dull, frontal, and made worse with movement. She describes the headache as causing her to feel "unsteady" when walking but tells you that it hasn't interfered with sleep.

The girl vomited "some" in the first few days of the headache but not recently. The eye problems began three days ago and, she points out, in fact appear to have corresponded with mild improvement in the headache.

A deeper dig into the history isn't reassuring. The patient does not report a personal or family history of migraine. She is active in sports and is an excellent student who does not relate any significant stressors. Her sisters are home from college for winter break and are not sick; neither are her parents.

The medical history could not be more normal, including menarche at 12 years of age. The girl takes only acetaminophen, no more than twice a day, for the headache. You press her about use of vitamins or acne creams, but she insists that she uses neither.

Her only remarkable travel history is that she lived in Korea for a few years because her father is in the armed forces. She has not traveled outside the United States during the past year, however.

On physical exam, your patient appears relatively comfortable. Blood pressure is 100/60 mm Hg; heart rate, 75/min. Height and weight are both at the 75th percentile for age.

Cranial-nerve examination reveals sixth cranial-nerve palsy on the right side without other cranial-nerve deficits. Funduscopic examination is worrisome for bilateral papilledema. The remainder of the neurologic exam is unremarkable, including a down-going Babinski sign bilaterally and normal gait when the affected eye is patched.

You do not detect significant lymphadenopathy or hepatosplenomegaly. Examination of heart and lungs is unrevealing. A complete blood count, drawn at admission, is unremarkable.

Given the persistent headache, papilledema, and cranial-nerve findings, you can't smile as you explain the differential diagnosis to the patient and her mother.
-------------------------------------
Что будем говорить?
Всего наилучшего, Алон
dr.Ira
Сообщения: 1003
Зарегистрирован: Пн мар 19, 2007 11:20 pm
Откуда: Israel

Сообщение dr.Ira »

Надо делать СТ/MRI и исключать опухоль. Вот только, как это сказать маме...? Для меня это всегда самое сложное.
Я бы отправила ее в больницу прямо с приема, написав в диагнозе : Head ache. Reccurent Vomiting. Papilledema. Increased intracranial pressure. For evaluatin and investigation.
Делай, что должен, и будь, что будет.
Alon
Сообщения: 574
Зарегистрирован: Пн мар 19, 2007 11:19 pm
Откуда: Israel

Сообщение Alon »

Given the high level of concern about a brain tumor, you're able to work the patient in quickly for magnetic resonance imaging. She is in the scanner within a few hours of your initial evaluation.

Afterward, the neuroradiologist calls quickly—but not with the bad news you expect. He is upset that you sent a patient with metal-alloy orthodontic braces for an MRI scan, but he is able to tell you that she does not appear to have a brain tumor or any evidence of increased intracranial pressure. Regrettably, however, those braces make it impossible for him to tell you anything about the cranial nerves or the base of the brain.
---------------------------
Что дальше? :)
Всего наилучшего, Алон
dr.Ira
Сообщения: 1003
Зарегистрирован: Пн мар 19, 2007 11:20 pm
Откуда: Israel

Сообщение dr.Ira »

Ну, сначала я скажу :"Слава богу!". Значит теперь можно боле-мене :) спокойно искать причины повторных головных болей, которые могли бы, одновременно, "если повезет немного" (с) объяснить неврологическую симптоматику у девочки.
Открываем Нельсона и читаем. (У меня Нельсон не копируется :( ).
Делай, что должен, и будь, что будет.
Alon
Сообщения: 574
Зарегистрирован: Пн мар 19, 2007 11:19 pm
Откуда: Israel

Сообщение Alon »

You wonder to yourself about viral meningitis and its ability to cause cranial-nerve paralysis. But you know that most cases of viral meningitis are caused by enteroviruses and occur during warm months. You consider multiple sclerosis, acute disseminated encephalomyelitis, and other demyelinating processes; is it possible that you are interpreting signs of optic neuritis as papilledema? Briefly, you entertain a subarachnoid hemorrhage. Could she have pseudotumor cerebri? She is certainly not overweight.
You recheck the medication history to be certain: Again, no minocycline, no tretinoin (Retin-A) cream—nothing to cause concern at all.
Seems that you've ruled out a brain tumor; what now? You proceed to what you believe is rightly the next step:______________?
Всего наилучшего, Алон
AOkhotin
Site Admin
Сообщения: 3776
Зарегистрирован: Пн мар 19, 2007 10:40 am
Откуда: Таруса
Контактная информация:

Сообщение AOkhotin »

LP
с уважением, Артемий Охотин

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

Изображение
Alon
Сообщения: 574
Зарегистрирован: Пн мар 19, 2007 11:19 pm
Откуда: Israel

Сообщение Alon »

You proceed to what you believe is rightly the next step:
lumbar puncture.
This will allow you to evaluate the girl for viral meningitis and, possibly, multiple sclerosis. At the same time, you request formal ophthalmologic evaluation to confirm the papilledema—especially because there did not appear to be increased intracranial pressure on the MRI scan.

You explain the next step to the family and prepare the patient for the procedure with a topical anesthetic and a mild intravenous sedative. As you set up, you make certain that you have the equipment on hand to measure opening pressure.

The opening pressure is 18 cm H2O—high normal, not really convincing for the presence of pseudotumor. The white blood cell count in cerebrospinal fluid is 11 X 103 /μL, with 80% lymphocytes; glucose and protein levels are solidly normal. No red blood cells are seen.

You send a specimen of cerebrospinal fluid for a multiple sclerosis panel and viral evaluations, and you retain another tube in the event that diagnostic inspiration is late in coming. Interestingly, the patient reports almost immediate relief of the headache; you begin to think that maybe you've been wrong to rule out pseudotumor. Could you have performed the opening pressure measurement wrong? No—you were careful to place her lying down, legs partially and comfortably extended.

That night, you go to bed puzzling over your patient. Is this simply a case of resolving viral meningitis? You plan to search the literature the next day to determine the likelihood of cranial-nerve palsy in such cases.

The next morning, the neurology consultant weighs in. He agrees that the likely diagnosis is a resolving viral meningitis; improvement after lumbar puncture, he points out, is sometimes consistent with this diagnosis.

Later that morning, however, while you're discussing the patient's case on bedside rounds, something strikes you that you must have missed yesterday: This blond, blue-eyed adolescent has a beautiful tan—in the middle of winter.

You interrupt rounds to question her: Has she been using a tanning bed or booth?

She is somewhat offended by your suggestion and tells you that she always uses sunscreen with a sun protection factor (SPF) of no less than 45, and has never been in a tanning bed or booth in her life!

You ask her mother, whose complexion is quite pale, if the girl has inherited her coloration from her father, whom you haven't met. The patient's father is also blond and blue-eyed, she replies—and quite fair skinned.

Your examine the girl again and now notice that her lips seem unusually pigmented and that the creases of the wrists and palms are fairly prominent.
--------------------------------
Что будем делать дальше? :)
Всего наилучшего, Алон
AOkhotin
Site Admin
Сообщения: 3776
Зарегистрирован: Пн мар 19, 2007 10:40 am
Откуда: Таруса
Контактная информация:

Сообщение AOkhotin »

Теперь снимаем брекеты и повторяем МРТ. Кроме того, берем суточную мочу на кортизол.
с уважением, Артемий Охотин

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

Изображение
Alon
Сообщения: 574
Зарегистрирован: Пн мар 19, 2007 11:19 pm
Откуда: Israel

Сообщение Alon »

You go with a hunch and order a electrolyte panel and a morning cortisol assay. Results return, and are remarkable for a sodium of 128 mEq/L (normal, 135-145 mEq/L) and a morning cortisol of 1.2 μg/dL (normal, 2-10 μg/dL).

You strongly suspect adrenal insufficiency, and that your patient's beautiful tan is the result of a chronically elevated level of adrenocorticotropic hormone (ACTH). To confirm that suspicion, you test ACTH, which comes back at >12,500 pg/L (normal, undetectable to 460 pg/L). An endocrinology consult confirms your suspicions.

You discuss with the endocrinologist the differential diagnosis of Addison disease in a female adolescent: The list is fairly short.
The consultant recommends placing a purified protein derivative (PPD) test for tuberculosis and imaging the adrenal glands because the patient once lived in a TB-endemic area (Korea) and TB is known to produce a destructive adrenalitis.
The PPD is negative, however, and the scan reveals only slightly smaller-than-normal adrenal glands.

A test of very-long-chain fatty acids to assess for the carrier state of adrenoleukodystrophy is negative. A search for thyroid autoantibodies leads to a finding of relatively high antithyroglobulin and antimicrosomal antibodies and a borderline-high level of thyroid-stimulating hormone. A blood specimen is sent to a specialty laboratory for testing of antibody to 21-hydroxylase.

You start the patient on steroid replacement therapy and educate her and her parents about what to do in the event of an illness or emergency. She is discharged. The discharge diagnosis is a likely autoimmune polyendocrinopathy, possibly consistent with Schmidt syndrome. Pseudotumor cerebri secondary to adrenal insufficiency is the final verdict on the headache after your brief literature search reveals several case reports that mirror this presentation.

You are left wondering what might have happened to this patient had you not been jealous of her tan on that cold presenting day in January!

Adrenal insufficiency is uncommon in children. The differential diagnosis includes autoimmune, infectious, infiltrative, and traumatic causes. In your patient, an autoimmune cause was strongly suspected because of the presence of thyroid autoimmunity as well. Type-II autoimmune polyglandular syndrome, or Schmidt syndrome, is a constellation of adrenal insufficiency, insulin-dependent diabetes mellitus, and autoimmune thyroid dysfunction, sometimes accompanied by autoimmune ovarian dysfunction.

Typically, early signs of Schmidt syndrome present in the first or second decade of life; pathologic analysis reveals a lymphocytic infiltrate in involved glands. Type-I autoimmune polyglandular syndrome typically presents in infancy and is associated with hypoparathyroidism and chronic mucocutaneous candidiasis, followed by (among other problems) adrenal failure.Taken together, autoimmune syndromes are the most common cause of pediatric adrenal insufficiency.

Infectious causes of adrenal insufficiency include tuberculosis, histoplasmosis, and meningococcemia. Infiltrative diseases associated with adrenal insufficiency are sarcoidosis, amyloidosis, and various cancers. Last, trauma associated with acute adrenal hemorrhage and use of multiple drugs has been reported to cause adrenal failure.

Your patient's anti-21 hydroxylase antibody test returns at >5,000 U/mL (normal, <1 U/mL). She also develops mineralocorticoid insufficiency over the next few weeks as an outpatient; replacement therapy is begun. Her energy level improves greatly and the cranial-nerve palsy resolves as well. Thyroid function normalizes without hormone replacement, despite the presence of autoantibodies.

This is, in a sense, going to be a case without end: The young woman requires close endocrine follow-up for the rest of her life. She is aware that premature ovarian failure is possible.
-----------------------------
ссылка вдогонку: http://www.ncbi.nlm.nih.gov/entrez/quer ... t=Abstract
Всего наилучшего, Алон
Ответить