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Headshot of UDN participant 004Male, age 20 months with seizures, cataracts, a small head size (microcephaly), and global developmental delay

Date of Report July 1, 2016
Description During the first few months of life, the patient was noticed to have slow growth and developmental delay. He was not visually tracking, focusing on faces, or responding to some sounds. At 8 months, he was found to have cataracts in both eyes and was diagnosed with infantile spasms. A brain MRI showed mild delays in myelination and mildly decreased brain volume with slightly large ventricles. The patient’s parents also report that when he gets angry or upset, like when trying to urinate or have a bowel movement, he will hold his breath, turn blue, and pass out.
Symptoms/Signs
  • Global developmental delay
  • Poor weight gain (failure to thrive)
  • Seizures (infantile spasms, generalized myoclonic seizures)
  • Tremors
  • Breath-holding spells (cyanotic breath-holding spells)
  • Small head size (microcephaly)
  • Wide head shape (brachycephaly)
  • Cataracts in both eyes (lamellar, bilateral cataracts)
  • Visual impairment (cortical)
  • Deep set eyes
  • Prominent cheekbones
  • Possible mild hearing loss
  • Difficulty swallowing (oral-pharyngeal dysphagia)
  • Sleep apnea (central)
  • Abnormal breathing (breathing dysregulation)
  • Acid reflux disease (gastroesophageal reflux)
  • Difficulty urinating
  • Funnel chest (pectus excavatum)
  • Exaggerated cupid’s bow
  • Thick eyebrows
  • Long eyelashes
  • Flat bridge of nose (depressed nasal bridge)
  • Short neck
  • Single crease on palms (single transverse palmar crease bilaterally)
  • Curvature of pinky fingers (clinodactyly of 5th finger bilaterally)
Current treatments
  • Topamax – seizures
  • Ketogenic diet – seizures
  • Clonazepam – seizures and mood
  • Gabapentin/neurontin – deep sleep assistance and gastric pain
  • G-Tube – poor weight gain
Previously Considered Diagnoses
  • Hypomyelination and congenital cataract (caused by genetic changes in FAM126A gene)
  • Pelizaeus-Merzbacher disease
  • Microdeletion/duplication syndrome
Genetic Variants of Interest Clinicians and researchers have identified the following de novo genetic change as the cause of the patient’s symptoms (Schoch et al, 2017 ):
Gene Inheritance Pattern Position Transcript DNA Change Protein Change
NACC1* unknown Chr19: 13246913 NM_052876.3 c.892C>T p.R298W
p.Arg298Trp
*Database Links:
GeneCards: GC19P013117 NCBI Gene: 112939 OMIM: 610672 UniProtKB/Swiss-Prot: Q96RE7
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