December 2021
3-year-old female with microcephaly, developmental delay, dyskinesia, truncal hypotonia, facial dysmorphism, corneal opacities, widely spaced & hypoplastic nipples and abnormal genitalia
November 2021
Neonate with prenatal ventriculomegaly and hypotonia on exam
October 2021
2 yo with febrile seizures in the setting of severe influenza A encephalopathy. Initial MRI was normal. Second seizure cluster 2 days later;
September 2021
Teenager presenting with 1 month of eye swelling and pain
August 2021
7-year-old female with upper airway obstruction and facial abnormality
July 2021
Newborn presenting with seizure
June 2021
5-year-old female with altered mental status
May 2021
32-week fetus with severe microcephaly and suspected brain anomaly
April 2021
12-year-old female with history of seizures, hypersomnia and ataxia
March 2021
Toddler with progressive motor deficits
February 2021
11-month-old with seizures and global developmental delay
January 2021
17-month-old child with microcephaly and palpable skull defects
December 2020
3-year-old girl with slurred speech, gait unsteadiness and encephalopathy
November 2020
10 y/o with left head swelling
October 2020
10-year-old boy with facial paralysis and difficulty with ocular movements since birth
September 2020
Occipital encephalocele and cystic kidneys detected on prenatal ultrasound at 27 weeks
August 2020
9-year-old with nasal mass
July 2020
4-day old with cleft lip, cleft palate and prenatal diagnosis of intracranial cyst
June 2020
Infant girl with infantile spasm
May 2020
15-year-old girl with new onset seizures
April 2020
3-year-old girl with delayed / difficultly walking, abnormal gait, and dysarthria
March 2020
3-month-old with bilateral club feet and spinal abnormality noted at birth
February 2020
12-month-old girl with oculomotor apraxia, motor delay and poor growth
January 2020
Neonate with normal birth history, poor feeding, and seizures
December 2019
5-month-old girl with a skin covered lump on the lower back. Known anorectal malformation
November 2019
6-year-old, previously healthy girl, with headache, facial droop, and left-sided weakness
October 2019
Scalp abnormality detected on prenatal ultrasound at 28 weeks
September 2019
4 y/o girl with worsening bilateral lower limb spasticity with stiffness and poor balance
August 2019
30-month-old boy with neurologic regression in motor and language domains as well as dystonia
July 2019
History withheld
June 2019
Absent corpus callosum on fetal ultrasound in a female fetus
May 2019
3 year old girl with acute ataxia
April 2019
7 year-old girl presenting with URI symptoms and seizures
March 2019
14-month-old female with pulmonary hypertension, seizures, and congenitally dilated pupils
February 2019
21-week-old fetus with abnormal prenatal ultrasound
January 2019
5-year-old boy with refractory epilepsy and developmental delay
December 2018
1-year-old boy with motor delay and regression
November 2018
2-year-old with a left neck mass enlarging in size over 1 month
October 2018
Abnormal prenatal ultrasound at 22 weeks gestational age
September 2018
8-month-old boy with left 3rd cranial nerve palsy and ptosis
August 2018
9-year-old girl with abnormal involuntary movements
July 2018
3rd-trimester fetus with abnormal prenatal ultrasound
June 2018
17-year-male with sickle cell disease who presents with altered mental status, thrombocytopenia, and bradycardia. No fever or trauma.
May 2018
6-month-old infant with infantile spasms on treatment
April 2018
7-year-old girl with bilateral conductive hearing loss and dysmorphism
March 2018
6-month-old girl with severe microcephaly at birth. Mother had traveled to Brazil in her 1st trimester.
February 2018
7-month-old boy with macrocephaly.
January 2018
8-year-old girl with a painful left eye
December 2017
9-year-old boy with acute non-traumatic neck pain and pain under the right scapula
November 2017
2-year-old girl with headaches
October 2017
8-month-old girl with right upper extremity weakness since birth
September 2017
6-year-old girl with headaches, persistent vomiting, and abnormal gait
August 2017
1-week-old female with difficulty breathing
July 2017
15-year-old with known HIV infection presents with syncope and possible seizures
June 2017
4-year-old boy with tuberous sclerosis and an enlarging, newly enhancing cerebellar lesion
