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Participant 148


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Female, age 6 with developmental delay, problems with coordination (ataxia), difficulty speaking (dysarthria), and tremor

Date of Report

Oct 08, 2019

Description

As an infant, the participant was very unhappy, often screaming and appearing uncomfortable. She met early developmental milestones, but had problems with coordination (ataxia) and displayed a tremor (action tremor) when reaching for items.

Following an illness around 9 months of age, the participant appeared to regress in skills, which she later regained. She stood unassisted around age 2 and walked unassisted around age 4 ½ with intensive therapy. She uses ankle-foot orthoses (AFOs), walks with an ataxic gait and falls frequently. MRI identified brain abnormalities (cerebellar atrophy, neuronal loss in the cerebral cortex, thin corpus callosum, pons hypoplasia).

The participant has some feeding difficulties (failure to thrive) and is fed with a syringe via mouth for 50-80% of her daily intake. She may have had some seizure activity early in life, which resolved without treatment. During illnesses, the participant has experienced regression in skills including walking, fine motor, and speech. She has been stable and has steadily improved in terms of development from ages 3 ½ to 6.

Developmentally, she is delayed and has an individualized education plan (IEP). She has a short attention span, is easily distracted, and very busy. She is friendly and generally happy.

Symptoms / Signs
  • Small head size (microcephaly)
  • Short stature
  • Low muscle tone (muscular hypotonia)
  • Failure to thrive
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability
  • Difficulty speaking (dysarthria)
  • Problems with coordination (ataxia)
  • Tremor during voluntary movement (action tremor)
  • Brain abnormalities (cerebellar atrophy, neuronal loss in the cerebral cortex, thin corpus callosum, pons hypoplasia)
  • Abnormality of cells in the eye (rod-cone dystrophy)
  • High levels of cholesterol and glutamine in the blood (hypercholesterolemia, hyperglutaminemia)
  • Decreased level of carnitine in the blood (decreased plasma carnitine)
  • ADHD-like behavior
Current Treatments
  • Formula – failure to thrive
  • L-carnitine – carnitine deficiency
  • Melatonin – sleep disorder
  • Multivitamin
Prior Treatments
  • Miralax – constipation
Considered treatments
  • Lamictal – suspected seizures
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Metabolic condition
  • Microdeletion/duplication disorder
  • Mitochondrial condition
  • Spinocerebellar ataxia 7 (SCA7)
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal recessive
chr10:g.61832047, chr10:g.61835057
NM_001320874
c.8592G>T, c.5582C>T
p.Lys2864Asn, p.Thr1861Met
Contact

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