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Participant 192

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Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Undiagnosed male, age 3, with neurodevelopmental delay, previously refractory focal epilepsy that is now well controlled, brain MRI abnormalities, and other physical differences related to the eyes, ears, and nose.

Date of Report

Feb 01, 2022


The participant was born at 39 weeks gestation after an uncomplicated pregnancy. Shortly after birth, he was evaluated for feeding difficulties requiring an NG tube which was difficult to pass.

Approximately 1 month after birth, a referral to ENT was made after noting heavy, loud breathing. A CAT scan observed blockage of both nasal passages (bilateral pyriform aperture stenosis) and an abnormal right internal ear (dysplastic lateral semicircular canal). Subsequent imaging by MRI at 7 weeks and by MRI and MRA at 4 months also noted multiple regions with asymmetry (right smaller than left), a pituitary abnormality, and vascular anomaly.

At around 2 months of age, the participant began having seizures confirmed through an EEG, and has since been diagnosed with refractory focal epilepsy. His seizures have been controlled on zonisamide and oxcarbazepine since 2 years of age.

Eye exams have shown physical eye anomalies in the form of outward left eye misalignment (exotropia), mild droopiness in the right eyelid (ptosis), suspected bilateral 4th cranial nerve palsy, and visual impairment caused by the brain (cortical visual impairment).

Evaluation by ENT noted normal hearing. However, a swallow study noted food entering the airway (deep laryngeal penetration), requiring honey-thickened liquids to prevent aspiration. This has resolved with age.

Notably, the participant also has a history of global developmental delay.  He began walking independently at 30 months of age and remains non-verbal.  Additionally, flatness (plagiocephaly) was seen on the right side of his head which required the use of a helmet to shape his head as he grew.

Currently, the participant sees endocrinology to treat low thyroid hormone levels (free T4 hormone) with hormone replacement therapy.  It is not clear if his hypothyroidism is the result of his pituitary abnormality or a medication side effect. The participant and his family spend multiple hours each week on treatments and appointments.

Symptoms / Signs
  • Seizures that begin on one side of the brain (Focal-onset seizure)
  • Motor delay (gross and fine motor delay)
  • Delayed speech and language development
  • Mildly small head size (borderline microcephaly)
  • Abnormal brain MRI findings (many structures are smaller on the right side than on the left, incompletely characterized pituitary abnormality)
  • Facial differences (full cheeks, short chin, mild hypotelorism,  long palpebral fissure, short nose, depressed nasal bridge, everted upper lip vermilion, medial flaring of the eyebrow, sparse medial eyebrow)
  • Dental differences (widely spaced primary teeth, rotated maxillary central incisors, microdontia of primary teeth, conical primary incisor)
  • Abnormalities of the soft tissue that connects the lip and gums (Abnormal oral frenulum morphology)
  • Blockage of nasal airways (Bilateral pyriform aperture stenosis)
  • Outward turning of the eyes (Exotropia)
  • Eyelid droopiness of one eye (Unilateral ptosis)
  • Damage to visual processes of the brain (Cerebral visual impairment)
  • Paralysis of muscles in the eye (Fourth cranial nerve palsy)
  • Ear differences (low-set ears, thickened helices, protruding ears, large earlobes, bilateral uplifted earlobe, underdeveloped antitragus, underdeveloped tragus, dysplasia of the vestibule and the lateral semicircular canal of the right inner ear)
  • Vascular malformations (azygous anterior cerebral artery with hypoplastic left A1 and a cutaneous capillary hemangioma)
Current Treatments
  • Seizure medications (oxcarbazepine and zonisamide)
  • Thyroxine hormone therapy
Prior Treatments
  • Eye surgery (to treat symptoms of 4th cranial nerve palsy)
  • Helmet therapy
  • Honey-thickened liquids (to prevent aspiration)
  • NG tube
Considered treatments
Previously Considered Diagnoses
  • Autism and intellectual disability syndromes
  • Chromosomal aneuploidy
  • Fragile X syndrome
  • Holoprosencephaly syndromes
  • Metabolic disorders
  • Microdeletion/duplication syndromes
  • Mitochondrial disease
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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