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).
Identify all potential conflicts of interest that might be relevant to your comment.
Conflicts of interest comprise financial interests, activities, and relationships within the past 3 years including but not limited to employment, affiliation, grants or funding, consultancies, honoraria or payment, speaker's bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued.
Err on the side of full disclosure.
If you have no conflicts of interest, check "No potential conflicts of interest" in the box below. The information will be posted with your response.
Not all submitted comments are published. Please see our commenting policy for details.
Mohan G, Bharathi G, Vellingiri B. A Middle-aged Woman With Severe Scoliosis and Encephalopathy. JAMA Neurol. 2021;78(2):251–252. doi:10.1001/jamaneurol.2020.4270
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.