A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures

Julia M. Rosenberg; Camille Brown; Michele J. Spencer-Manzon

doi:10.1542/pir.2019-0010

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Julia M. Rosenberg, MD*,^†
Camille Brown, MD*
Michele J. Spencer-Manzon, MD*,^‡

^*Department of Pediatrics, Yale New Haven Children’s Hospital, New Haven, CT
^†National Clinician Scholars Program,
^‡Yale School of Medicine, Department of Genetics, Yale University, New Haven, CT

Address correspondence to Julia M. Rosenberg, MD, National Clinician Scholars Program, PO Box 208088, New Haven, CT 06510. E-mail: julia.rosenberg{at}yale.edu

AUTHOR DISCLOSURE
Drs Rosenberg, Brown, and Spencer-Manzon have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of unapproved/investigative use of a commercial product/device.

Presentation

A 6-year-old girl presents to the pediatric refugee clinic for her initial refugee health assessment shortly after arrival from Syria.

Her past history is notable for a seizure disorder of unknown etiology and global developmental disability.

After an uncomplicated prenatal and postnatal course, the patient’s seizures and developmental delays reportedly first manifested at 7 months of age. At that time, the family attributed the seizure to a fall from a stroller. After this event, she had a total of 4 more lifetime seizures, which were characterized by eye rolling, clonic posturing, and left arm jerking.

Her only medications are clobazam and valproic acid. Her family history is negative for known seizures or genetic disorders, although her parents are consanguineous (first cousins). Her review of systems is otherwise negative, and her family denies previous infectious diseases nor exposure to individuals with tuberculosis.

At presentation to our clinic, her estimated developmental age is ∼9 months; her global developmental deficiencies include speech, fine motor, and gross motor delays. She is nonverbal, has poor receptive language skills, and is unable to follow commands. She can scoot but is nonambulatory. She cannot feed herself and is not toilet-trained.

On examination, the patient has no dysmorphic features. She demonstrates intermittent posturing and rocking movements and has generalized hypotonia and motor weakness; she can maintain sitting and standing positions only with support. She was found on ophthalmologic examination to have myopia. Cranial nerves II-XII are intact. Strength is III/V in both upper and lower extremities. She does not have neurocutaneous markings nor abnormal odors.

Initial refugee screening laboratory results, which are expanded to include a complete metabolic …