Urine with musty odor
Phenylketonuria
In a young child with generalized epilepsy refractory to multiple AEDs, what would be next best choice of treatment?
Ketogenic diet
What is the most prevalent primary HA disorder in the general population?
Tension type HA
Pt from underdeveloped country with seizures on presentation and cystic and calcified parenchymal lesions on imaging. Dx?
Neurocysticercosis
R hemiparesis, R homonymous hemianopsia, and aphasia
Left MCA syndrome
Hexosaminidase A deficiency
21 yo M has been having spells in which he suddenly stops what he is doing and stares for a minute, sometimes picking at his nose or his shirt. He cannot recall what happens during the spells. He says however that he knows when a spell is going to happen because he experiences a warm sensation in his epigastric region, followed by fear sensation and a rapid recollection of episodes of past life experiences with palpitations. EEG shows focal spikes. What type of seizure is this pt having?
Temporal lobe seizures
A 62 yo M presents with episodes of L sided facial pain. Episodes are brief and shock-like, lasting from several seconds up to a minute. Location in the left cheek and triggered by brushing teeth and touching the area. What do you suspect on the basis of this history?
Trigeminal neuralgia
Most common cause of meningitis in very young or very elderly.
Listeria monocytogenes
Finger agnosia, Right-left disorientation, agraphia and acalculia
Gerstmann's syndrome
Brittle hair (kinky), bilateral SDH, developmental delay
Menkes Disease
Early infantile epileptic encephalopathy
Ohtahara's syndrome
26 yo obese F with HTN presents with worsening HA which she describes as a bifrontal and bioccipital band like pressure and pain. Occasionally she experiences brief transient visual loss or graying but denies photophobia. She sometimes gets nauseated and vomits when pain is severe. What is most likely diagnosis?
Pseudotumor cerebri aka idiopathic intracranial HTN
21 yo F with hx of recurrent sinusitis presents with fever, diplopia, and facial pain. On exam, she has proptosis of R eye with periorbital edema, limited EOM of R eye and reduced sensation over her R upper face and cheek. Fundoscopic exam reveals papilledema and retinal hemorrhages. Dx?
Cavernous sinus thrombosis
40 yo M presents with tinnitus, unilateral hearing loss, N/V and vertigo. ON exam he has nystagmus, ipsilateral ataxia, ipsilateral Horner's and contralateral sensory deficits to pain and temperature of arm, trunk and leg. The infarct is in which distribution vessel wise?
AICA stroke
Multiple endochondromas and secondary hemangiomas
Maffucci's syndrome
Multiple seizure types, slow spike-wave complexes, and psychomotor delay or regression
Lennox-Gastaut syndrome
72 yo F reports HA that wake her up only during sleep and never occur in the daytime. Each HA duration is about 3 hrs. Mild to moderate in severity, sometimes unilateral, but often bilateral. Denies any autonomic features and does not feel a sense of restlessness during the HA. Denies neurological symptoms and neuro exam is normal. She reports having these HA attacks on at least 12 days per month for past 4 months. What is most likely diagnosis?
Hypnic HA
Progressive dementia, 14-3-3 protein, MRI with hyperintensity in the cortex, bilateral thalami, pulvinar, and head of caudate. Dx?
CJD
Lobar hemorrhages, multiple microhemorrhages on MRI gradient echo, congo red positive, seen as apple green birefringence with polarized light.
Cerebral amyloid angiopathy
Gyral calcifications in tram track appearance on MRI
Sturge- Weber syndrome
Occipital epilepsy with tonic eye deviation, ictal vomiting, and visual seizures
Panayiotopoulos syndrome
29 yo F has HA with visual disturbances. HA occur about 2x per month, throbbing and pulsating in quality. Duration 12 hrs. OTC meds do not help. HA are always R sided with associated rhinorrhea and lacrimation ipsilateral to HA. Associated with N/V, photo and sonophobia. At the beginning of the HA, she cannot see out of the R eye b/c of shimmering shapes lasting for about 45 mins. What is most accurate diagnosis?
Retinal migraine
While you are working a July 4th shift in the summertime, a 62 yo M farmer presents to ED with AMS and generalized weakness. He has been having low grade fevers, malaise, back pain, body aches, and HA for past 10 days. Over the past 5 days, he has developed b/l hand tremors and difficulty walking. About 3 days ago, he has AMS, and has been unable to move his legs. On exam he is lethargic and confused and flaccid in LEs with areflexia. Dx?
West Nile encephalitis
Contralateral hemibody sensory loss with subsequent development of pain, allodynia, and paresthesias. Results from a thalamic lesion.
Dejerine-Roussy syndrome