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Interesting Cases

2021 Cases

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Young child with altered mental status and abnormal movement
Neonate with prenatal diagnosis of ventriculomegaly
3-year-old female with microcephaly, developmental delay, dyskinesia, truncal hypotonia, facial dysmorphism, corneal opacities, widely spaced & hypoplastic nipples and abnormal genitalia
Child with progressive lower extremity weakness
Toddler with seizures and facial bumps
9-year-old with painless slowly growing midline mass under the chin
Neonate with prenatal ventriculomegaly and hypotonia on exam
Global developmental delay, hypotonia, and lactic acidosis in an 18-month-old male with
Toddler with altered mental status
15-year-old with one month of increasing right arm pain
2 yo with febrile seizures in the setting of severe influenza A encephalopathy. Initial MRI was normal. Second seizure cluster 2 days later
Infant with neck mass
Teenager with COVID-19 infection presenting with word-finding difficulty, hallucinations, and
Teenager presenting with 1 month of eye swelling and pain
Young child with worsening headaches
Toddler with concern for optic disc edema
Adopted infant with prominent fontanelles
3-month-old with rapidly growing upper jaw mass for 1 week
7-year-old female with upper airway obstruction and facial abnormality
6-year-old male with genetically undefined primary immunodeficiency
2-year-old with left-sided facial palsy
Newborn presenting with seizure
17-month-old female with palpable neck mass
Young patient with new onset scoliosis for 1 year
12-year-old presenting with an enlarged aortic root
5-year-old female with altered mental status
Prenatal diagnosis of ventriculomegaly
Child with macrocephaly and developmental delay
Toddler with right sensorineural hearing loss
32-week fetus with severe microcephaly and suspected brain anomaly
2-year-old with proptosis
Teenager with history of aneuploidy and acutely altered mental status
Neonate with bilateral club feet
12-year-old female with history of seizures, hypersomnia and ataxia
2 y/o with ataxia, nystagmus, and developmental delay
Toddler with periauricular soft tissue swelling
Teenager with seizures and transient neurologic deficits
Young child with lump in the upper back near the spine
Toddler with progressive motor deficits
Teenager with headache and left facial droop
Teenager with right sided neck mass for 2 weeks
Neonate with imperforate anus and skin-covered lumbosacral mass
11-month-old with seizures and global developmental delay
Teenager (male) with nasal mass
Young woman with right facial pain
Toddler with vomiting and ataxia
17-month-old child with microcephaly and palpable skull defects