October 2025

NEUROSCIENCES

ATYPICAL PRESENTATIONS OF ISOLATED CHOREA AND CUTANEOUS LESIONS IN ATAXIA TELANGIECTASIA

Ataxia telangiectasia (A-T) is a rare neurodegenerative disorder caused by pathogenic variants in the ATM gene. It presents in early childhood with progressive ataxia. Other common features include oculocutaneous telangiectasias, immunodeficiency and increased susceptibility to cancer.

In this case, a young male presented with mild, generalized, nonprogressive, isolated chorea since early infancy and cutaneous abnormalities, highlighting the broad and sometimes atypical symptom spectrum of A-T.

Patient timeline:
  • Birth to 3 months: The patient was born full term with an uneventful delivery. Café au lait spots and axial freckling were identified at 3 months, initially suggesting a diagnosis of neurofibromatosis type 1 (NF1), though genetic testing was not conducted at this time.
  • 9 months: The patient was evaluated by a neurologist due to delayed motor milestones.
  • 16 to 18 months: Parents reported the first noticeable abnormal choreiform movements affecting the head and limbs, coinciding with the child achieving independent walking. Initially subtle, these movements became more apparent during daily activities. At 18 months, he was described as clumsy given sporadic falls.
  • 3 years: The patient began various therapies, including physical therapy to enhance motor coordination and occupational therapy for fine motor skills. While some improvement was noted, chorea persisted without worsening.
  • 10 years: During examination, the patient presented with right cervicothoracic scoliosis, café au lait spots, axial freckling and hypopigmented lesions, along with mild choreiform movements at rest. MRI indicated possible gliosis and a full workup for chorea causes was normal.
  • 11 years: Family-based whole-exome sequencing was performed, confirming the diagnosis of A-T through the identification of compound heterozygous variants in the ATM gene.
  • 17 years: With chorea impacting his functionality, treatment with amantadine was initiated, later increased to 400 mg/day, leading to significant symptomatic improvement.
  • 19 years: The patient noted reduced effectiveness of amantadine. Gabapentin was later introduced up to 900 mg/d, leading to additional subjective benefit on choreic movement.
  • 20 years: At follow-up, the patient’s chorea was stable and well-controlled, without progression or new neurologic symptoms, confirming the efficacy of the combined pharmacologic treatment.

This case underscores the importance of recognizing atypical presentations of A-T, such as isolated chorea, which can complicate diagnosis. It also highlights the need of genetic testing when evaluating unusual movement disorders in children.

A-T should be considered in differential diagnoses for childhood-onset chorea, as early detection is critical for essential for proper management and oncologic surveillance. Timely identification is especially important due to the increased risk of malignancy associated with A-T. 
Niccolo Mencacci, MD, PhD, Assistant Professor of Neurology at Northwestern Medicine
Joanna S. Blackburn, MD, Associate Professor of Pediatric Neurology at Northwestern Medicine
Juan Deliz Gonzales, MD, Chief of Movement Disorders at Northwestern Medicine Palos Hospital

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