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JAMA Neurology Clinical Challenge
November 16, 2020

A Middle-Aged Woman With Severe Scoliosis and Encephalopathy

Author Affiliations
  • 1Human Molecular Cytogenetics and Stem Cell Laboratory, Department of Human Genetics and Molecular Biology, Bharathiar University, Coimbatore, Tamil Nadu, India
JAMA Neurol. Published online November 16, 2020. doi:10.1001/jamaneurol.2020.4270

A 42-year-old woman presented with clinical features of microcephaly, short stature, intellectual disability, severe degree of scoliosis, gait abnormality, and encephalopathy (Figure, A and B). She was born in 1973 at 38th week of gestation followed by a normal delivery (weight, 3.15 kg and head circumference, 42 cm) to nonconsanguineous parents. The head size was normal at birth, and no other abnormalities were seen during her infancy. At age 2 years, her parents noticed that she had delayed motor and language milestones. She experienced a progressive developmental delay such as reduction of head growth, loss of acquired communication, and loss of motor functions between ages 9 and 12 years. The severity of scoliosis increased with age, and she became a wheelchair user at age 18 years. She was referred to us at age 40 years with the characteristic features of growth deceleration (height, 142 cm; weight, 22 kg; body mass index, 11 [calculated as weight in kilograms divided by height in meters squared]), apraxia, left-sided hemiplegia, spasticity, sleep apnea, constipation, osteoporosis, hypoalgesia, and repetitive hand tapping (Video). Blood reports showed anemia (hemoglobin level of 9.1 g/dL; to convert to grams per liter, multiply by 10) and low levels of high-density lipoprotein cholesterol (47 mg/dL; to convert to millimoles per liter, multiply by 0.0259). There was no history of autistic behavior, vision or hearing impairments, or epilepsy. The electrocardiogram showed sinus rhythm with T wave inversion (V3-V6), and echocardiography showed mild cardiomegaly. The brain magnetic resonance imaging studies showed a diffuse reduction in the corpus callosum involving splenium and enlarged right ventricle, resulting in cerebral lateral ventricular asymmetry (Figure, C).

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