Cortical Ribbon 2.0

Welcome to the second edition of the cortical ribbon. This week we are super excited to bring you a new segment specifically on pediatric neurology. The goal of this section is to prepare the adult neurologists for what they may encounter when they enter the world of colorful hospital walls, dosing by weight and eating at a better cafeteria.

Case of the Week: A Fahr from Normal CT Scan

What to say when you get consulted at 3AM for a year long problem…

Sounds about right. An elderly female with a history of prior MI, coronary artery disease, reported TIA many years ago (no residual deficits) presented to the ED for a 3-6 month history of intermittent forgetfulness. Patient described intermittent episodes of forgetting her keys. She does not drive, but had never gotten lost walking home. Through this time, she had been able to do all activities of daily living on her own and had never forgotten to turn off the stove. She initially presented to her primary care physician who obtained a head CT. Reportedly she was called by someone at the office telling her to come to the ED because she had blood on her scan. Outside films were not available at this time. History is otherwise notable for hypothyroidism, hypertension and she is currently on aspirin, simvastatin, metoprolol, omeprazole, levothyroxine and calcium supplementation. Her examination, including mental status, was completely normal. She had no evidence of subtle weakness, cerebellar findings or movement abnormalities. A head CT was obtained in the ED which showed the following and neurology was consulted for further evaluation.

CR2 Fahrs

What is this? areas of excessive mineralization in the cerebellum and basal ganglia

What causes this? A genetic disease named after a German man, or any of its mimics*

*True Fahrs Disease refers to the autosomal dominant genetic condition leading to abnormal deposits of calcium in characteristic brain regions, normally the caudate, dentate, putamen, thalamus, globus pallidus and cerebellum. Typically patients present with symptoms between the ages of 40-60. Just to confuse Jars, Fahr Syndrome typically refers to the same radiographic features, but from a secondary cause such as: aging (normal variant), hyper or hypoparathyroidism, CNS infections, carbon monoxide, lead poisoning or other rare inherited disorders of metabolism.

What should I do? Order calcium, magnesium, PTH, calcitonin, B12, ESR as a first pass

So what happened? Labs were obtained in the ED showing normal calcium, PTH, calcitonin, B12, and ESR. The patient’s intermittent forgetfulness was thought to be secondary to normal aging, and not related to her calcifications. The conclusion was that this was probably a normal aging variant on imaging as well. She was discharged home with close outpatient follow up and told to monitor her calcium supplementation intake to no more than the allotted daily requirement.

Pediatric Pearls: More Than Just Little Brains

What to say when you can’t figure out why that kid is seizing…

Sounds like a real doosey of a diagnosis. No really, maybe it’s Doose syndrome. Doose syndrome, otherwise known as myoclonic astatic epilepsy (MAE) or epilepsy with myoclonic-atonic seizures (EMAS) is a generalized epilepsy syndrome of young children characterized by multiple seizure types including myoclonic seizures, generalized tonic clonic seizures, absence seizures, atonic (or astatic) seizures, and tonic seizures. It accounts for approximately 1-2% of childhood onset epilepsies and has a male predominance, normally starting around age 3-4. Initially they may present developmentally normal with a normal MRI. The case may be mild, with just one GTC, but some present with frequent explosive onset seizures of multiple types. The initial EEG is often normal but later develops classic EEG findings of brief bursts of 2 to 5 hz spike and wave and polyspike and wave complexes. There may also be background slowing and parietal theta. This condition can be very difficult to treat. The most effective therapy appears to be the ketogenic diet, with valproic acid and topiramate offering some relief. Some efficacy has been seen with ACTH, steroids, keppra, lamictal and zonisamide. Prognosis is variable. Some studies report that 66% children may have seizures that go away completely or decrease in frequency, yet 66% of children will have normal to mild cognitive delay. Now you can impress your CHOP attendings when you handle that mommy call with confidence (or daddy call, or grandparent call, or any other non-gender stereotyping possibility, because it’s not 1959).

The Price is Rite Review

Hitchcock’s Hiccup – Yet another reason to fear the sea

Any movie buffs recall Alfred Hitchcock’s The Birds? Were you aware this was inspired by an actual event involving dive bombing seabirds attacking townies in Capitola, California? Which of the following would you gander was the cause of such a catastrophe?

  1. The mercury in vaccines?
  2. Wonky shellfish?
  3. Weather patterns?

It was indeed a poisoned shellfish. Specifically, domoic acid, a neurotoxin produced by algae and concentrated in the seawater filters known as mollusks, is responsible for a terrifying entity called amnesic shellfish poisoning (ASP). It is also likely the cause of this drunken bobbing sea lion and wide waddling pelican. Domoic acid induces excitotoxicity of the hippocampus and amygdala via overactivation of AMPA and kainate (glutamate) receptors. A sample of the delightful side effects in this syndrome include headache, dizziness, disorientation, visual disturbances, loss of short-term memory, motor weakness, seizures, profuse respiratory secretions, hiccups, unstable blood pressure, peripheral neuropathies, cardiac arrhythmia, coma and death. Bottoms up oyster lovers!

This is your Brain on Poetry – Weekly Neurology Haikus

Body leans to and fro
Eyes running left, running right
Ah! Cerebellum

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