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Participant 012

On this page, you will find information about a UDN participant.

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.


Female, age 2, with congenital disorder of glycosylation (type IIm) caused by a change in SLC35A2 gene

Date of Report

Nov 18, 2016


Shortly after birth, the patient was found to have pyloric stenosis, a condition in which muscles block food from entering the small intestine. She underwent surgery to correct this at 9 weeks. Currently she has reduced functioning of her stomach and intestines (reduced gastric and intestinal motility) and constipation. She has had trouble gaining weight.

At 3 months, the patient was diagnosed with infantile spasms, which have not been controlled with medication. A brain MRI showed a decrease of white matter and vermis in the brain (progressive diffuse atrophy of the hemispheric white matter and vermis). Her left leg is also bigger and longer than her right leg (hemi-hypertrophy of left leg).

Developmentally, the patient has stopped gaining milestones, but has not regressed. She often has difficulty sleeping through the night.

Symptoms / Signs
  • Developmental delay
  • Sleep disturbance
  • Decreased body weight
  • Poor weight gain (failure to thrive)
  • Short stature
  • Decreased bone density (osteopenia)
  • Reduced amount of homovanillic acid in cerebrospinal fluid (decreased CSF homovanillic acid)
  • Reduced amount of creatinine, alkaline phosphatase, and albumin in blood (decreased serum creatinine, low alkaline phosphatase, hypoalbuminemia)
  • Increased testosterone hormone and immunoglobulin M in blood (increased serum testosterone level, IgM level)
  • Large red blood cells (erythrocyte macrocytosis)
  • Increased amount of red blood cells (increased hematocrit)
  • Increased number of white blood cells called monocytes (monocytosis)
  • Decreased number of white blood cells called neutrophils (neutropenia)
  • Low blood sugar (hypoglycemia)
  • Seizures (infantile spasms)
  • Abnormal EEG (hypsarrhythmia)
  • Decrease in the areas of the brain called the cerebellar vermis and white matter (cerebellar vermis atrophy, cerebral white matter atrophy)
  • Narrow forehead
  • Low hairline at the back of the head (posterior)
  • Vision loss caused by damage to the visual cortex (cortical visual impairment)
  • Farsightedness (hypermetropia)
  • Whites of the eyes appear blue (blue sclerae)
  • Colored splotches on the eye (retinal pigment epithelial mottling)
  • Eyes turned inward/crossed eye (esotropia)
  • High palate
  • Central and obstructive sleep apnea
  • Low muscle tone (muscular hypotonia)
  • Abnormal intestinal contractions (hypoperistalsis)
  • Acid reflux/heartburn (gastroesophageal reflux)
  • Constipation
  • Anus located closer to genitals (anteriorly placed anus)
  • Early sexual maturation (premature adrenarche)
  • Overgrowth of left leg (hemihypertrophy of lower limb)
Current Treatments
Prior Treatments
  • ACTH, oral prenisilone, vigabatrin, various conventional anticonvulsants, ketogenic diet, CBD oil, folinic acid, pyridoxine, vagal nerve stimulator- seizures
Considered treatments
Previously Considered Diagnoses
  • Neurodegeneration due to cerebral folate transport deficiency
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

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

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
c.245G>T (15.5% mosaic)

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


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