SANS Neurology Flashcards
Seorang wanita dengan disfagia dan tremor kronis berat yang progresif. Pasien baru-baru ini dirawat dikarenakan timbulnya beberapa episode psikosis. Dalam pemeriksaan didapatkan disartri, sering terlihat air liur di mulutnya, dan terdapat tremor yang timbul saat ekstensi pada kedua tangannya. hasil pemeriksaan matanya didapatkan deposit granulasi kuning kecoklatan pada limbus dari kornea. Diagnosis yang paling mungkin adalah?
A. Tirotoksikosis
B. Sydenham Chorea
C. Diskinesia Tardive
D. Sindrom Lesch-Nyhan
E. Degenerasi Hepatolentikuler
E. Degenerasi hepatolentikuler
The most likely diagnosis is hepatolenticular degeneration, or Wilson Disease. Wilson Disease is an autosomal recessive disorder of copper transport and metabolism with resultant hepatic, neurologic, and psychiatric symptoms. Onset of symptoms is typically before age 12, but can range up to 50 years of age. Patients presenting after age 10 tend to have primary neurologic complaints of tremor, dysarthria, rigidity, dystonia, fine motor and gait instability. Psychiatric disturbances, including psychosis, can precede neurologic symptoms in 20% of cases, and early dementia is not normally seen. The condition should be considered in any child presenting with tremor, dysarthria, dystonia, or other primary movement disorder.
Additional clinical symptoms of Wilson disease include ocular Kayser-Fleischer rings, due to copper deposition in Descemet’s membrane, and best seen by slit-lamp examination. Diagnosis is confirmed by low serum copper and ceruloplasm concentrations, and increased urinary copper excretion.
Tardive diskinesia most commonly result from chronic use of neuroleptic medications, and involves dyskinetic and choreiform movements of lingual facial and buccal muscles. Sydenham Chorea is a post-streptococcal syndrome, involving primarily choreiform movements, as well as hypotonia, dysartrhia, and emotional lability. Thyrotoxicosis can cause tremor and chorea, but not typically dysarthria or dysphagia. Lesch-Nyhan Syndrome is an X-linked recessive disorder of purine production which results in hyperuricemia and neurologic symptoms of abnormal movements and tone. Symptoms appear in the first year of life, and females carriers are typically asymptomatic.
Seorang pria berusia 21 tahun dengan riwayat kesulitan berjalan yang progresif. Pada pemeriksaan, pasien tidak dapat merasakan posisi dan getaran di ekstremitas bawahnya. tidak didapatkan deep tendon refleks. Jari-jari kedua kaki terangkat ke atas. Terdapat gangguan cara berjalan (gait) yang berat. Pamannya memiliki diabetes dan ketulian, memiliki riwayat gejala yang sama, dan meninggal di usia 55 tahun. Diagnosis yang paling tepat adalah :
A. Neoplasma pada fossa posterior
B Multiple sclerosis
C. Wilson’s disease
D. Friedreich’s ataxia
E. Huntington’s chorea
D. Friedreich’s ataxia
This man has Friedreich’s Ataxia, an autosomal recessive condition caused by an unstable GAA trinucleotide repeat in a gene for a mitochondrial protein named frataxin. Patients develop symptoms of gait instability and lower extremity sensory disturbance in adolescence. Symptoms progress, eventually involving the arms. 50% have skeletal deformities, including pes cavus and scoliosis. 60% can have a hypertrophic cardiomypopathy. Other symptoms can include deafness, optic atrophy, and diabetes mellitus.
Pathologic changes are characterized by demyelination and degeneration of the posterior columns, spinocerebellar, and pyramidal tracts in the spinal cord. Similar changes are seen in the cerebellar dentate nuclei, dorsal root ganglia, and peripheral nerves (loss of large myelinated fibers).
Diagnosis is by genetic confirmation of the mutation on chromosome 9. Care is supportive. Life expectancy is typically 35-40 years from onset.
Seorang pria berusia 27 tahun bekerja sebagai pekerja konstruksi bangunan memiliki nyeri kepala dengan onset baru, yang timbul secara mendadak saat sedang mengangkat benda-benda berat. Dia selalu terlihat di ruang gawat darurat terdekat setiap kali gejala tersebut muncul. Saat itu hasil pemeriksaan neurologis, CT Kepala, dan cairan spinal dalam batas normal. Saat ini dia datang ke ruang gawat darurat dengan nyeri kepala persisten dan kelumpuhan pada abducens kiri. Pemeriksaan neurologis lain dalam batas normal. MRI dengan gadolinium terlampir. Pada cairan spinal didapatkan limfosit 95. CSF protein sedikit meningkat tetapi glukosa normal. Diagnosis paling tepat adalah :
A. Meningitis karsinomatosa
B. Hipotensi intrakranial spontan
C. Pachymeningitis interstitial hipertropik
D. Sarkoidosis
E. Limpoma
B. Hipotensi intrakranial spontan
Marked dural enhancement with gadolinium on MRI scans is a characteristic sign of spontaneous intracranial hypotension (SIH). The headache of SIH is usually orthostatic, but headache may be present regardless of position. The syndrome is usually the result of leakage of spinal fluid into the spinal epidural space as a result of a tear of a spinal nerve root cyst. In addition to headache, which may begin abruptly, as in this case, and thus simulate subarachnoid hemorrhage or exertional headache, numerous other symptoms have been attributed to SIH, including unilateral or bilateral abducens palsy, distorted hearing, tinnitus, nausea, Parkinson-like symptoms, neck pain, intrascapular pain, and coma. Spinal fluid pleocytosis has often misled clinicians to look for spinal fluid metastatic or infectious disease. Unilateral or bilateral subdural effusions are common. The dural enhancement is not seen on CT scans. All of the diagnoses listed can cause dural enhancement, but sagittal MR imaging may also show an acquired Chiari malformation, flattening to the pons against the clivus, and the horizontal position of the optic nerves and chiasm, characteristic of intracranial hypotension. Spontaneous resolution can occur with bed rest. If persistent, 80% of patients will respond to one or more epidural blood patches. If unsuccessful, diagnostic tests to identify the site of the leak are necessary and occasionally surgical repair is necessary.
Seorang pria berusia 29 tahun datang ke bagian gawat darurat setelah terbangun dengan nyeri yang terasa dalam dan menjemukkan pada telinga kanan dan kendur pada wajah sebelah kanan. Hasil pemeriksaan masih menunjukkan sensasi yang normal pada aderah yang terkena dan tidak terdapat lesi pada daerah pinna. Pendengaran dalam batas normal akan tetapi terdapat peningkatan sesnsitifitas pada suara di telinga kanan. Sebuah scan MR didapatkan peningkatan pada nervus fasialis kanan dan tulang petrosus. sebuah foto pasien berusaha tersenyum terlampir. Pemilihan terapi awal yang paling memungkinkan pada pasien ini adalah :
A. Prednison oral
B. Levaquin oral
C. Observasi
D. Asiklovir oral
E. Dekompresi bedah pada nervus fasialis kanan
A. Prednison oral
This patient has typical Bell’s palsy. When deciding on effective treatment of facial paralysis, one must realize that about 70% of patients recover completely without treatment and about 85% have near normal recovery. Thus evaluation of the results of treatment can be difficult. A patient seen within several days of onset, particularly if there appears to be complete or near complete paralysis, should be offered treatment with steroids and antiviral therapy. Although a meta-analysis of studies comparing steroids vs placebo are not completely in agreement, there seems to be a preponderance of evidence that treatment with steroids beginning within several days of onset decreases the incidence of permanent paralysis. The value of antiviral therapy is also not definitely established, but there is evidence that Bell’s palsy may have a viral etiology - herpes simplex or herpes zoster virus. The latter causes the Ramsey Hunt Syndrome, with vesicles on the pinna or adjacent face, but proven zoster facial palsy can occur without vesicles. Some studies have shown the combination of steroids and antiviral therapy are superior to steroids and placebo. The value of surgical decompression in complete paralysis has not been proven to be of definite benefit. When the patient’s clinical history does not suggest disorders such as Lyme disease, Guillain-Barre syndrome, sarcoidosis, or parotid tumor, an extensive work up will usually not be revealing. Diabetes mellitus should be ruled out. An MRI scan is not necessary, but if performed, enhancement of the facial nerve and geniculate ganglion may be seen in the temporal bone. This should not be confused with neoplasm and lumbar puncture is not necessary. Although lymphoma is a rare cause of Bell’s Palsy, chemotherapy, such as methotrexate, should not be given in the absence of a definitive tissue diagnosis which is unlikely in this case.
Pria berusia 34 tahun dengan riwayat 8 tahun lalu menjalani transplantasi hepar saat ini sedang berada di ruang gawat darurat dengan keluhan pandangan kabur. Dia juga mengalami halusinasi visual. Tidak didapatkan paresis tetapi didapatkan asterixes bilateral. Diskus optikus dan pupil dalam batas normal. Pasien memiliki hipertesi dan kejang gand mal. hasil MRI terlampir. manakah dibawah ini yang merupakan diagnosis pasien tersebut :
A. Limpoma
B. Glioma diffus
C. Leukoensefalopati posterior yang reversibel
D. Leukoensefalopati multifokal yang progresif
E. Intoksikasi Ammonia dengan edema serebral sekunder
C. Leukoensefalopati posterior yang reversibel
This patient has cyclosporin intoxication manifested as the posterior reversible leukoencephalopathy syndrome. Other immunosuppressive medications can cause an identical process. Puerperal eclampsia, hypertensive encephalopathy, and triple H therapy for vasospasm following subarachnoid hemorrhage can also cause this syndrome. Cyclosporin intoxication incites hypertension. There is edema without infarction of predominantly the posterior hemispheres. Sometimes other parts of the brain and cerebellum can be affected. On MRI there is symmetrical increased T2 signal in the white matter of the posterior parietal and occipital lobes. The lesions do not enhance. Clinically there is headache, encephalopathy, ataxia, tremulousness and visual symptoms. Major motor seizures can occur. The lesions usually reverse within several weeks of correcting the underlying condition such as stopping cyclosporin. Progressive multifocal leukoencephalopathy, lymphoma, diffuse glioma are other white matter lesions that occur in transplants patients that are easily distinguished radiographically and clinically.
Seorang pekerja pos berusia 36 tahun ditemukan di sebelah mobil posnya dengan status epileptikus konvulsif. Gelang ID kesehatan miliknya menunjukkan dia memiliki riwayat epilepsi, dan dalam pengobatan fenitoin. Setelah diterapi dengan fenitoin IV, membangun serum level tipikalnya menjadi 18, kejang pun berhenti. 2 jam kemudian pasien tetap tidak berespon, dan sekarang dengan nistagmus ke kiri dengan sesekali hentakan klonik pada tangan kiri. STAT dan CT dalam batas normal. Pemeriksaan penunjang yang paling tepat adalah :
A. Elektroensefalogram
B. Lumbar puncture
C. MR diffusion imaging
D. Serum sodium
E. MR angiogram
A. Elektroensefalogram
A significant number of patients can have ongoing electrographic seizures after apparent clinical resolution of convulsive status epilepticus. Symptoms can be subtle or difficult to identify without bedside continuous EEG monitoring. In some studies, up to 14% of patients had nonconvulsive status epilepticus identified as the cause of persistent coma after cessation of convulsive status. Rapid identification of ongoing seizure activity will enable effective treatment and decrease morbidity and mortality. CNS and vascular imaging may help to identify the underlying cause of status and the risk of ongoing seizures, and should be obtained, but would delay diagnosis of status in this patient. Phenytoin levels should be documented, as subtherapeutic AED levels are a common cause of breakthrough seizures in patients with epilepsy, but awaiting levels should not delay EEG. Similarly, lumbar puncture should be obtained as part of the diagnostic evaluation, but will not identify ongoing status. Hyponatremia could contribute to the underlying status and electrolytes should be checked, but again the primary goal is to identify and immediately reverse ongoing status epilepticus.
Seorang wanita berusia 46 tahun dengan nyeri seperti terbakar pada bagian kanan pertengahan thoraks. Rasa nyeri menjalar disekitar sisinya ke arah perut membentuk pola mirip pita. Di saat yang sama, pasien juga mengeluhkan adanya malaise, mual, dan muntah. Pada hari pemeriksaan, telah terbentuk gugusan vesikel pada dasar merah di lokasi nyeri terbakar tersebut (seperti pada gambar). Apakah pengobatan paling tepat:
A. Terapi Antiviral
B. Vincristine
C. NSAID
D. Steroid
E. Penicillin
A. Terapi antiviral
Varicella zoster, the virus which causes chicken pox, becomes latent in cranial nerve and dorsal root ganglia. Reactivation of latent varicella zoster virus results in a localized cutaneous eruption termed �herpes zoster� or �shingles.� Over 90% of adults in the United States have serologic evidence of varicella zoster virus infection and therefore are at risk for shingles. Systemic antiviral therapy has been shown to shorten the duration of viral shedding, halt the formation of new lesions more quickly, accelerate the rate of healing, and reduce the severity of acute pain. More importantly, there is modest evidence that antiviral therapy in the acute phase can reduce the risk of developing postherpetic neuralgia (PHN). Depending upon one’s definition, PHN is pain that persists one to three months after the onset of the skin rash. The risk factors for developing PHN are older age, greater severity of the acute pain and the rash, a prodrome of dermatomal pain before the onset of the rash. The patient in this case, because she is young, has not more than a 20% chance of developing PHN. Systemic steroids may lessen cutaneous pain of the acute eruption, but there are conflicting studies as to whether it prevents the development of PHN. Steroids should only be used in combination with antiviral therapy. Opiates may be needed in the acute phase because of the intensity of the pain. There is no role for topical antiviral agents or chemotherapeutic agents.
Seorang pria berusia 55 tahun dengan perburukan memory jangka pendek, kebingungan, dan gelisah. Pada pemeriksaan pasien terlihat depresi, memiliki kesulitan dalam melakukan keterampilan motorik halus seperti ketukan jari, dan menunjukkan gerakan mata yang saccadic. Ayahnya meninggal pada usia 60 tahun setelah mengalami penyakit berkepanjangan dengan rigiditas yang semakin berat serta dementia. Pasien memiliki anak perempuan berusia 9 tahun yang baru-baru ini mengalami distonia dan kejang. hasil MRI menunjukkan penurunan volume striatal, dengan ventrikel lateral agak mengotak. Pasien kemungkinan besar mengalami gejala awal dari :
A. Ensefalopati mitokondria
B. Huntington’s disease
C. Parkinson’s disease
D. Ataksia spinoserebral
E. Batten disease (Neuronal Ceroid Lipofuscinosis)
B. Huntington’s disease
This patient most likely displays early symptoms of Huntington’s disease. Huntington disease is an autosomal dominant disorder with symptoms of chronic neurologic degeneration. While movement disorders of chorea, rigidity, and dystonia predominate in the later phase of the disease, early symptoms typically involve restlessness, dementia, and behavioral disturbances. Suicidality is a significant concern. Seizures are rare in adults, but are a dominant feature in 50% of affected children, where the disease is more rapidly progressive, often leading to death within 8 years of onset.
Diagnosis is confirmed by genetic testing of an expanded trinucleotide repeat in the ‘huntingtin’ gene on chromosome 4p16.3
Parkinson disease is a progressive disorder involving loss of dopaminergic neurons in the substantia nigra. Early symptoms in involve, tremor, rigidity, dystonia, and gait instability, rarely cognitive impairment. Mitochondrial disorders can involve multiple organ symptoms and can involve ophthalmoplegia, retinitis pigmentosa, and weakness. The caudate is rarely involved. Spinocerebellar Ataxia (SCA) is a heterogenous group of genetic disorders (currently at least 30 described) dominated by symptoms of ataxia and incoordination with retained cognitive ability. Batten disease is a juvenile onset (age 2-10y) degenerative disorder characterized by visual loss, loss of global motor function, and prominent myoclonic seizures.
Seorang pria berusia 61 tahun datang dengan kebingungan. “Axial gradient echo (susceptibility-weighted) images” menunjukkan beberapa kelainan. Secara keseluruhan, temuan ini paling tepat menunjukkan diagnosis dari :
A. Perdarahan hipertensif
B. CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
C. Angiopati amiloid serebral
D. Karsinomatosis leptomeningeal
E. Creutzfeldt-Jakob disease
C. Angiopati amiloid serebral
The correct answer is amyloid angiopathy.
The gradient echo images are sensitive to blood products, which will appear hypointense. On the left image, left frontal and left parietal superficial siderosis is seen. The right image shows multiple cortical and subcortical microhemorrhages. Superficial siderosis results from degraded blood products within the cortical gyral sub-pial space. Blood in this distribution can result from amyloid-related microhemorrhages. Lobar microhemorrhages with superficial siderosis are not characteristic of CADASIL, carcinomatosis, or Creutzfeldt-Jakob disease. Hypertensive hemorrhages tend to occur in deeper brain regions such as the basal ganglia and brain stem.
Seorang pasien berusia 65 tahun dibawa ke ruang gawat darurat dikarenakan agitasi dan kebingungan, sejak seminggu yang lalu dan memburuk dengan cepat. Dia pertama kali mengalami kejang umum tonik-klonik pagi ini dan sejak saat itu diketahui dia mengalami halusinasi. Suhu tubuh pasien 38,20C. Hasil pemeriksaan menunjukkan pasien tidak kooperatif, kebingungan dan menunjukkan pergeseran m.pronator sinistra dengan hiperreflek. Selama pemeriksaan pasien mengalami dua episode mengunyah, kepala berpaling ke kiri dan kaku. Diberikan dilantin pada pasien. MRI otak terlampir. Manakah dibawah ini yang merupakan penanganan selanjutnya yang paling tepat untuk kejangnya :
A. Induksi koma dengan fenobarbital
B. Induksi koma dengan propofol
C. Lorazepam IV
D. Diazepam IM
E. Thiamine IV
C. Lorazepam IV
Herpes Simplex Virus (HSV) encephalitis is one of the most serious viral encephalitidies, but also one with potential treatment if rapid diagnosis is made. Onset of encephalopathy is characteristically abrupt, with rapid progression. Frontal and temporal lobe dysfunction are suggestive early features, as are focal or generalized seizures. Persistent seizures should be treated with an IV anticonvulsant and lorazepam. Temporal lobe involvement on MRI or CT is suggestive, but not specific for HSV. HSV encephalitis is often associated with hemorrhagic lesions of the temporal lobe, which distinguishes it from other encephalitidies. CSF pleocytosis, with 10-200 lymphocytes, and elevated protein 06.-6g/l is not uncommon. CSF HSV-1 PCR has 95% specificity for the virus. It is 95% sensitive if drawn between 2 and 10 days of onset. Intravenous acyclovir is the treatment of choice, and should be initiated immediately if the diagnosis is suspected. Treatment can be extended from 10-14 days depending on suspicion or certainty of diagnosis. Treatment with acyclovir can reduce mortality from 70% to 20-30%. Acyclovir is a safe and effective treatment, though patients should be well-hydrated, and renal function monitored to avoid toxicity. Treatment of seizures can be difficult, and may require both continuous EEG and pharmacologic coma. Periodic lateralized epileptiform discharges (PLEDS) can be seen, but are not diagnostic of HSV. Needle biopsy is not required if CSF studies are available, and should not delay treatment with acyclovir.
Seorang anak petani migran datang ke ruang gawat darurat dengan kejang. Orang tuanya mengatakan terdapat 60 detik tanpa respon dengan kedutan pada kaki kanan. Bulan lalu, mereka juga melihat beberapa kejadian yang sama saat anak tersebut mengalami infeksi telinga. Pada pemeriksaan ED, tampak tertidur tapi gelisah, dengan hemiparesis kanan moderate, terutama di kaki. hasil MRI terlampir. Manakah pilihan pemeriksaan penunjang yang paling tepat :
A. TB skin test
B. Needle biopsy
C. Open resection
D. Serum/CSF immunologic testing
E. PET-scan (positron emmision tomography)
D. Serum/CSF immunologic testing
Partial seizures is the most common presenting symptom in children with neurocysticercosis (>80%). Diagnosis is made with brain imaging, and both CT and MRI can reveal the enhancing scolex. Diagnosis can be supplemented with serum titers, which is a confirmatory test, though it may be of limited value (only 25% sensitive, especially when only a single parenchymal lesion is present). Spinal fluid ELISA can improve sensitivity to 50%, but can be falsely positive in other helminthic infections. Higher sensitivity and specificity can be obtained with antibody detection via other blotting techniques (see references). Biopsy is not required for diagnosis when imaging, clinical, and serological results are supportive, with imaging being the most useful initial diagnostic tool. Outcome is good with single lesions, and patients typically respond well to anticonvulsant monotherapy.
Seorang pria dengan 74 tahun dengan penurunan kognitif yang progresif selama ± 1 tahun, terkadang mengalami halusinasi visual, kurang perhatian akan sesuatu, kehilangan memori jangka pendek dan rigiditas pada kedua ekstremitas atas. Apakah diagnosis yang paling tepat :
A. Alzheimer’s disease
B. Dementia dengan Lew bodies
C. Dementia multi-infark
D. Wilson’s disease
E. Pick’s disease
B. Dementia dengan Lew bodies
Dementia with Lewy bodies (DLB) is the second most common form of degenerative dementia next to Alzheimer’s dementia accounting for as much as 20% of cases in the elderly. In addition to dementia, the disease is characterized by extrapyramidal signs (rigidity) and psychosis (visual hallucinations). Multi-infarct dementia is characterized by a stuttering progression due to the episodic nature of the vascular events. Alzheimer’s disease is the most common dementia but is less likely than DLB due to the concomitant extrapyramidal signs and psychosis. Wilson’s disease (hepatolenticular degeneration) is caused by deficient excretion and subsequent accumulation of copper. Patients can present with such signs and symptoms as jaundice, dysarthria, clumsiness, tremor, drooling, gait disturbance, malaise and arthralgia. Pick’s disease is a frontotemporal dementia characterized by early behavioral changes and frontal release signs.
Berdasarkan World Federation of Neurology, diagnosis amytrophic lateral sclerosis didapatkan pada disfungsi neurologis berpola :
A. Disfungsi motor neuron bagian atas atau bawah tanpa perkembangan
B. Disfungsi motor neuron bagian bawah yang terisolasi dengan perkembangan
C. Disfungsi motor neuron bagian atas yang terisolasi dengan perkembangan
D. Disfungsi motor neuron bagian atas dan bawah dengan perkembangan
E. Disfungsi motor neuron bagian atas dan bawah tanpa perkembangan
D. Disfungsi motor neuron bagian atas dan bawah dengan perkembangan
According to the World Federation of Neurology (WFN), patients diagnosed with amyotrophic lateral sclerosis (ALS) must have evidence of upper motor neuron AND lower motor neuron findings WITH evidence of progression. ALS is the most common neurodegenerative disease of the motor neuron system and classically affects multiple regions of the body. While most characterize the disease by loss of anterior horn cells in the spinal cord, there is also concomitant disease of the upper motor neurons (corticospinal tract neurons). The classic presentation is weakness/dysfunction of one part of the body which spreads to involve other parts of the body, with death resulting from respiratory failure
Kriteria diagnosis pada pasien dengan tuberous sclerosis termasuk diantaranya :
A. Axial dan ingunal freckling
B. Lesi kulit hipopigmentasi
C. Trigeminal port wine stain
D. Hemangioblastoma fossa posterior
E. Neuroma akustik bilateral
B. Lesi kulit hipopigmentasi
The correct answer is hypopigmented skin lesions. In 1998, the Tuberous Sclerosis alliance simplified diagnostic criteria into two groups - major and minor features. The clinical diagnosis is most accurate in patients older than 5 years, and breaks down as follows:
\*Definite TS - Two major features - or - One major plus two minor features
\*Probable TS - One major plus one minor feature
\*Possible TS - One major -or - Two minor features
Major Features
- Facial angiofibromas or forehead plaque
- Non-traumatic ungual or periungual fibroma
- Hypomelanotic macules (more than three)
- Shagreen patch (connective tissue nevus)
- Multiple retinal nodular hamartomas
- Cortical tubers
- Subependymal nodule
- Subependymal giant cell astrocytoma
- Cardiac rhabdomyoma, single or multiple
- Lymphangiomyomatosisb
- Renal angiomyolipomab
Minor Features
- Multiple randomly distributed pits in dental enamel
- Hamartomatous rectal polypsc
- Bone cysts
- Cerebral white matter migration lines
- Gingival fibromas
- Non-renal hamartoma
- Retinal achromic patch
- “Confetti” skin lesions
- Multiple renal cysts
Trigeminal port wine stain is a characteristic of Sturge-Weber Syndrome. Axial and inguinal freckling are a stigmata of neurofibromatosis type 1 (Von Recklinghausen’s Disease). Multiple hemangioblastomas in the posterior fossa and spine are characteristic of Von-Hippel Landau syndrome. Bilateral acoustic neuromas are found in patients with neurofibromatosis type 2.
Pada tahun 2009 FDA (Food and Drug Administration) Amerika Serikat memberikan mandat memperbarui pelabelan untuk semua antikonvulsan untuk menngindikasikan adanya peningkatan risiko pada :
A. Gagal ginjal
B. Gagal Hepar
C. Sindrom Stevens Johnson
D. Gangguan perilaku dan usaha bunuh diri
E. Attention Deficit Disorder (ADD)
D. Gangguan perilaku dan usaha bunuh diri
The FDA mandated updated labeling to indicate that all anticonvulsants are associated with an increased risk of suicidal ideation and behavior. The FDA warning was based on a meta-analysis of data from placebo-controlled clinical trials of 11 anticonvulsant medications. Results suggested that the risk of suicidality (particularly suicidal behavior and ideation) was twice as likely to occur in patients receiving these medications compared to those on placebo. Risk increased soon after initiation and persisted through at least 6 months of use. Risk was not related to the type of anticonvulsant used, or the indication for use.
An increased incidence of suicidal thoughts, attempts, and completed suicides has been well-documented in patients receiving anticonvulsant medications for treatment of non-epileptic conditions, typically psychiatric disorders involving mood instability. Depression is not uncommon in patients with chronic epilepsy, though suicidality has not been noted to correlate with the severity of illness.
Recognition of this risk should be considered and discussed with patients starting anticonvulsant medications for any indication.
Tujuh hari lalu, seorang anak berusia 3 tahun mengalami demam ringan yang diikuti rash vesikuler (terlihat di gambar). Dua hari lalu, anak tersebut mendadak mengalami onset ataksia truncal dan nistagmus horizontalis. Anak tersebut juga mempunyai dismetria moderat pada kedua tangan saat mengambil mainan, tidak dapat berdiri ataupun berjalan, dan bicaranya meracau. Tidak ada kelainan pada status mentalis. Terlihat tepian diskus yang tajam pada fundus. Tidak ada masalah dengan kekuatan dan deep tendon reflexes. Manakah dibawah ini yang merupakan diagnosis pasien tersebut :
A. Sindrom Guillain-Barre
B. Massa pada fossa posterior
C. Ensefalomielitis akut diseminata
D. Sindrom Mioklonus opsoklonus
E. Post-infectious cerebellar ataxia
E. Post-infectious cerebellar ataxia
Acute, post-infectious cerebellar ataxia in children can follow a number of infections. The most common is varicella (up to 30%), with others including mumps, mycoplasma, Epstein Barr, and a variety of predominantly viral infections. Symptoms of ataxia and dysmetria are explosive, and worst at onset. Mental status is preserved. Lumbar puncture is normal. Symptoms typically resolve fully within two weeks. The opsoclonus myoclonus syndrome is characterized by jerking opsoclonic movements of the eyes, with generalized myoclonic limb and body jerks. It can be post-infectious, but is also associated with neuroblastoma. Acute disseminated encephalomyelitis is a post-infectious central demyelinating syndrome. It is characterized by patchy, enhancing T2 and FLAIR changes in subcortical and deep white matter. It is frequently associated with mental status changes. Papilledema and mental status changes should raise concern for posterior fossa or brainstem mass, particularly if cranial nerves deficits are seen. The Guillain-Barre syndrome is a post-infectious syndrome of peripheral nerve demyelination. Deep tendon reflexes are typically lost early in the course.
