Headache
15 yo obese F who presents with a 3-week history of worsening headaches and a 2-day history of blurred vision. On neurologic exam: bilateral papilledema, a left abducens nerve palsy.
Initial test, diagnostic test and management?
Initial: neuroimaging to r/o hydrocephalus, , hemorrhage, masses, stroke, sinus venous thrombosis, and infection.
Diagnostic test: LP opening pressure>250 mm
Rx: Weight loss and exercise, carbonic anhydrase inhibitors (acetazolamide) and/or diuretic therapy (furosemide)
Sx: optic nerve sheath decompression and CSF shunting
previously healthy 13-year-old girl who presents with a 3-week history of bulbar and generalized weakness. She is found to have ptosis, fatigue on upgaze, facial weakness, hyponasal voice, proximal muscle weakness, and hyporeflexia on neurologic examination.
Diagnostic test? Treatment?
edrophonium (Tensilon) test
pyridostigmine, neostigmine, corticosteroids.
5 yo F with a h/o mild gross motor and speech delays who presents with subacute right-sided vision loss.
Exam: Multiple brown macules are noted on her trunk. Freckles are seen in the axillary regions bilaterally
Likely diagnosis of vision loss?
Right optic nerve glioma in a child with neurofibromatosis type 1
7-yo M who presents with a decline in academic performance and staring spells.
Per mother: "he stops talking, stares, and blinks his eyes for several seconds. These spells do not seem to bother him, however, and he is fine afterwards "
EEG findings? AED's used?
EEG: bilaterally synchronous and symmetrical 3-Hertz spike-and-wave discharges that start and end abruptly
Rx: ethosuximide, valproic acid, and lamotrigine
18 yo M, c/o severe sudden onset headache. lethargy x10 days. H/o IV drug use. Fever+. Exam: Somnolent, needle tracks, PERRL, palatal petechiae, neck stiffness, 3/6 Holosystolic murmur.
Diagnosis? Confirmatory test?
SAH 2/2 mycotic aneurysm rupture.
CT angio.
2 mo, previously healthy, developmentally normal girl who presents with the subacute development of lethargy, floppiness, weak cry, poor feeding, and constipation. Exam: fatigable pupils, intermittent ptosis, bulbar weakness (poor suck, facial weakness, weak gag), hypotonia (that is worse in the neck and shoulder girdle muscles), and proximal weakness
first step in management? ABx use?
Monitoring of respiratory function is essential, lack of appearance of respiratory distress is typical as respiratory failure progresses.
Broad-spectrum antibiotics --> worsen the condition by lysis of large numbers of C. botulinum in the gut with a resultant surge in toxin exposure. Aminoglycosides have neuromuscular blocking action and exacerbates condition.
6 yo F with a history of complex partial seizures and cognitive delay who now presents with the subacute development of headaches and vomiting.
Exam: hypopigmented macules and facial angiofibromas. Neuro exam: bilateral papilledema, brisk reflexes, and bilateral plantar extensor responses
Diagnosis?
Tuberous sclerosis complex with subacute hydrocephalus caused by a subependymal giant cell astrocytoma.
6 mo F infant with brief tonic contractions of the limbs and axial musculature, occurring in clusters. During this time, infant has stopped smiling, decreased her babbling, and is less interested in toys than previously. Normal exam.
Associations? EEG findings? Treatment?
EEG: may be normal but usually evolves to show hypsarrhythmia. Hypsarrhythmia describes an interictal pattern of chaotic, poorly organized, high amplitude, intermixed slow waves and multifocal epileptiform activity.
Rx: Adrenocorticotropic hormone (ACTH)/steroids and vigabatrin
10-year-old girl who presents with a 3-week history of incapacitating postural headaches. Physical exam findings: tall stature, arachnodactyly, joint hyperextensibility, lens dislocation. Normal neurologic exam.
Diagnosis?
Weakness of the meningeal sac secondary to an underlying connective tissue disorder, such as Marfan syndrome --> important cause of SIH. Dural ectasia are a common finding in Marfan patients and predispose individuals to SIH.
9-month-old boy presenting with significant gross motor delay, progressive weakness, and dysphagia. exam: bell-shaped chest, paradoxical respirations, tongue fasciculations, severe hypotonia (frog-leg position), proximal weakness, and areflexia on exam.
Diagnosis?
SMA
5-day-old F infant born at full term without complications who presents with a 2-day history of right-sided seizure activity in the absence of encephalopathy, fever, or illness.
Exam: prominent diffuse, erythematous, vesicular rash along Blaschko lines, and an otherwise normal neurologic exam.
Diagnosis?
Incontinentia pigmenti with right focal seizures.
previously healthy 5-month-old girl who presents with 1 week of fever, lethargy, and left focal seizures.
Exam: tachycardia, fever, and a full fontanelle, AMS and bilateral plantar extensor responses.
EEG findings? Factors that influence outcome?
EEG: nonspecific spike and slow-wave activity in the first week, followed by paroxysmal sharp or triphasic waves with temporal predominance. Some patients develop periodic lateralizing epileptiform discharges (PLEDs) at 2 to 3 Hz, which originate from the temporal lobes.
PLEDS are caused by acute destructive focal lesions and are a transitory phenomenon: they tend to disappear in weeks, even if the causal lesion persists.
Factors that influence outcome include age at diagnosis, duration of encephalitis, viral load, and initial level of consciousness.
6 yo F with T21 who presents with the acute onset of aphasia (receptive and expressive), dysarthria, right hemiparesis (involving the face, arm, and leg), depressed right-sided reflexes, and a right plantar extensor response.
Diagnosis?
Moyamoya Vasculopathy
noninflammatory, progressive cerebrovascular occlusive disease that slowly causes stenosis or occlusion of the cerebral arteries, especially those surrounding the circle of Willis or the arteries that feed it. There is a predilection for the internal carotid arteries. The cause of idiopathic moyamoya disease is unknown. Moyamoya is Japanese for “puff of smoke” and it describes the characteristic angiographic appearance of abnormal collateral arterial networks that develop around occluded vessels.
Disease States Associated with Moyamoya Vasculopathy: Neurofibromatosis type 1, Infectious or postinfectious vasculopathy, Fibromuscular dysplasia, Congenital heart disease, Marfan syndrome, Sickle cell disease, Down syndrome, Fanconi anemia, Radiation vasculitis, Atherosclerosis, Vasculitis, Head trauma