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Participant 075


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 5, with global developmental delay, absent speech, sparse hair, seizures, brain abnormalities, and short stature caused by changes in the TBCK gene

Date of Report

Apr 30, 2019

Description

At six weeks of age, the participant was noticed to have a twisted neck (torticollis) and skull abnormality (plagiocephaly). These were treated with physical and helmet therapy. Soon after, she was diagnosed with low muscle tone (hypotonia) and developmental delay.

When the participant was one year old, she received a cord blood infusion.  After the infusion, she was more present. By age 2, she was able to clap and babble. At age 3, the participant had two tonic-clonic seizures during fevers. These seizures were effectively managed with medication.

Currently the participant is nonverbal and can stand with assistance, but has difficulties with balance and walking (gait disturbance). She also has a large head size (macrocephaly), repetitive, uncontrolled eye movements (nystagmus), brain abnormalities observed on MRI, delayed bone age (delayed bone maturity), sparse hair, and short stature.

Symptoms / Signs
  • Global developmental delay
  • Absent speech
  • Seizures
  • Brain abnormalities (ventriculomegaly, mild periventricular leukomalacia, communicating hydrocephalus, leukoencephalopathy, hypodysplasia of the corpus callosum)
  • Skull abnormalities (craniosynostosis, plagiocephaly)
  • Large head size (macrocephaly)
  • Sparse hair
  • Scaly patches and red skin on scalp (seborrheic dermatitis)
  • Short stature
  • Delayed bone age (delayed skeletal maturation)
  • Difficulty growing (failure to thrive)
  • Feeding difficulties
  • Low muscle tone (muscular hypotonia)
  • Difficulty walking (gait disturbance)
  • Jerky head movements
  • Inappropriate behavior (hyper oral fixation)
  • Facial asymmetry (right face fuller than left)
  • High forehead
  • Prominent forehead (right)
  • Highly arched eyebrow
  • Eye folds (bilateral epicanthus)
  • Eye turned inward (esotropia)
  • Repetitive, uncontrolled eye movements (nystagmus)
  • Crossed eyes (strabismus)
  • Increased distance between eyes (hypertelorism)
  • Droopy eyes (ptosis)
  • Low-set, posteriorly rotated ears
  • Flat bridge of nose (depressed nasal bridge)
  • Broad nasal tip
  • Long distance between nose and lip (long philtrum)
  • Triangular shaped upper lip (tented upper lip vermilion)
  • High palate
  • Short chin
  • Neck twisted to one side (torticollis)
  • Hoarse voice
  • Soft doughy skin on hands
  • Prominent fingertip pads
  • Bent 5th fingers (bilateral clinodactyly)
  • Widely spaced nipples (wide intermammillary distance)
  • Acid reflux (gastroesophageal reflux)
  • Abnormal distention (mild)
Current Treatments
  • Cord blood infusion
  • Diazepam – seizures
Prior Treatments
  • Phenobarbitol – seizures
Considered treatments
Previously Considered Diagnoses
  • Argininosuccinate lyase deficiency
  • Cerebral palsy
  • Metabolic condition
  • Mitochondrial condition
  • Single gene disorder (exome sequencing non-diagnostic)
Other Photographs
Genetic Variants of Interest

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

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
TBCK
Autosomal recessive
see gene page
see gene page
see gene page
see gene page
Contact

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

Disclaimer

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