Weak Sauce
A 4-month-old with profound hypotonia, macroglossia, massive cardiomegaly, and a short PR interval; name the deficient enzyme.
What is acid alpha-glucosidase (Pompe disease)?
This lamp helps you find hypomelanotic macules in an infant with spasms.
What is a Wood lamp (ash leaf spots of TSC)?
Therapeutic hypothermia for neonatal encephalopathy should be started within this window.
What is 6 hours of life?
Seizures and a movement disorder with a low CSF-to-serum glucose ratio; treat with a ketogenic diet.
What is GLUT1 deficiency (SLC2A1)?
A 3-week-old has repetitive myoclonic jerks only while asleep; they stop the instant she is woken, and the EEG is normal.
What is benign neonatal sleep myoclonus?
A 3-month-old with constipation, weak suck, ptosis, and sluggish pupils; name the specific treatment.
What is BabyBIG (botulism immune globulin)?
This drug class shrinks subependymal giant cell astrocytomas.
What are mTOR inhibitors (everolimus)?
Neonatal high-output heart failure with a cranial bruit is the classic presentation of this.
What is a Vein of Galen malformation?
T2 imaging shows a hypointense globus pallidus with a central spot of hyperintensity in a child with progressive dystonia due to this condition.
What is pantothenate kinase-associated neurodegeneration (PKAN)?
(eye of the tiger sign)
** Wilson disease can also show eye of tiger: more classically face of giant panda sign in midbrain
These 6–11 Hz temporal discharges appear in drowsiness, with no aftergoing slow wave and no evolution.
What are wicket spikes?
An 8-year-old from a camping trip has 24 hours of rapidly ascending weakness and areflexia, with normal CSF and normal sensation. This treatment takes less than a minute.
What is removing the tick?
A newborn has a port-wine stain involving the forehead and upper eyelid. Name the somatic mosaic gene, and the eye complication you screen for.
What is GNAQ and glaucoma?
(Sturge-Weber syndrome)
A 3-month-old with a history of kernicterus gets an MRI. This structure is bright on T2, whereas in the acute neonatal period the same injury shows on T1.
What is the globus pallidus?
A 3-month-old boy with seizures, hypothermia, and sparse, twisted, depigmented hair, low serum copper/ceruloplasmin most likely has this condition.
What is Menkes disease?
(ATP7A -- Wilson disease is ATP7B)
A 4-year-old has language regression with normal hearing; the EEG shows spike-wave occupying most of slow-wave sleep.
What is Landau-Kleffner syndrome (with ESES/DEE-SWAS)?
A child with mild static proximal weakness, hip dysplasia, scoliosis, and normal or mildly elevated CK has this condition; the same gene causes a dominantly inherited anesthetic emergency.
What is central core disease? (RYR1)
A newborn girl has linear vesicles, eosinophilia, and seizures. Her mother reports several miscarriages of male pregnancies. Name the condition.
A well-appearing 3-day-old has recurrent focal seizures; dad had seizures as a newborn and outgrew them. Name the gene and the drug that works especially well.
What is KCNQ2, treated with carbamazepine (or oxcarbazepine)?
A boy with delayed motor milestones develops dystonia and compulsive biting of his lips and fingers; the family noticed orange crystals in his diaper as an infant.
What is Lesch-Nyhan syndrome (HPRT1)?
When cannabidiol is added for a child with Dravet or LGS, levels of this drug's active metabolite rise, causing sedation that often gets blamed on the CBD itself.
What is clobazam? (N-desmethylclobazam)
Periodic paralysis plus a long QT with prominent U waves, low-set ears, and clinodactyly.
What is Andersen-Tawil syndrome?
Beyond café-au-lait macules and freckling, this bone finding counts as a diagnostic criterion for NF1.
What is sphenoid wing dysplasia (or tibial pseudarthrosis)?
Pyridoxine fails in a neonate with intractable seizures, but this cofactor works, in a disorder caused by PNPO variants.
What is pyridoxal-5-phosphate?
Macrocephaly, widened Sylvian fissures, and subdural hematomas that can be mistaken for abusive head trauma in this metabolic condition.
What is glutaric aciduria type 1?
A 9-year-old with LGS has drop attacks causing repeated facial injuries despite four ASMs. Name the palliative surgery aimed specifically at the drops.
What is corpus callosotomy?