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Participant 188


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Female, age 8 with multiple dysmorphic features, global developmental delay, and epileptic encephalopathy

Date of Report

Sep 09, 2021

Description

The participant was born after a pregnancy complicated by insulin-controlled gestational diabetes, reduced fetal movement, and polyhydramnios.   Soon after birth, she was noted to have low muscle tone (hypotonia) and dysmorphic features.  She struggled with feeding from birth and was notably irritable as a baby.

At 5 months old, she began having infantile spasms and continued to have periods of significant regression associated with increased seizure frequency throughout her childhood. By 3-4 years old, she was having hundreds of seizures per day and began to lose her previously attained developmental milestones.  Since attaining improved seizure control, she has made some developmental gains.

The participant continues to have severe global developmental delay. She has developed some receptive language skills but has always been non-verbal and non-ambulatory. She smiles and laughs and enjoys listening to music to calm down.

Symptoms / Signs
  • Seizures (multifocal, tonic, myoclonic, bilateral tonic-clonic types)
  • Infantile spasms (hypsarrhythmia)
  • Epileptic encephalopathy
  • Global developmental delay
  • Absent speech
  • Developmental regression (during periods of poor seizure control)
  • Low muscle tone (hypotonia)
  • Less responsive reflexes (hyporeflexia)
  • Facial, head, and mouth differences (downslanted palpebral fissures, shallow orbits, bilateral ptosis, exotropia, prominent glabella, highly arched eyebrow, extension of eyebrows towards upper eyelid, bifid uvula, high palate, broad face, full cheeks, smooth philtrum, prominent supraorbital ridges, narrow forehead, wide nasal bridge, broad nasal tip, everted upper lip vermillion, posterior plagiocephaly, high palate, advanced eruption of teeth, widely spaced primary teeth)
  • Visual impairment (astigmatism, cerebral visual impairment, myopia, peripapillary atrophy)
  • Ear abnormalities (posteriorly rotated ears, abnormality of earlobe, stenosis of external auditory canal, large earlobe, underdeveloped tragus and antitragus, long ears)
  • Prominent superficial veins of the chest and abdomen
  • Sunken chest (pectus excavatum)
  • Hand and foot differences (small nails and hands, clinodactyly of the 5th finger, erythema and edema of the dorsum of hands and feet, broad and short feet)
  • Externally rotated hips and hip deformity (bilateral coxa valga)
  • Intestinal malrotation
  • Genitourinary differences (ambiguous genitalia, hyperplastic labia majora, exaggerated rugosity of the labia majora)
  • Sleep apnea
  • Chronic constipation
  • Gastroesophageal reflux (GERD)
  • Increased androgen secretion at an early age (premature adrenarche)
Current Treatments
  • Cannabidoil, ketogenic diet, clonazepam, and perampanel (seizures)
  • Dulcolax, milk of magnesia (chronic constipation)
  • Albuterol
  • Vitamin D3
  • Melatonin
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Bohring-Opitz syndrome
  • Metabolic condition
  • Microdeletion/duplication condition
  • Mitochondrial condition
  • Mowat-Wilson syndrome
  • RASopathies
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
Autosomal dominant
chr19:g.3653547T>C
NM_012398.2
c.662A>G
p.Tyr221Cys
Contact

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