Female, age 14, with autism spectrum disorder, intellectual disability, self-injurious behaviors, seizures, muscle weakness, a large head size (macrocephaly), and a brain tumor (astrocytoma)
Dec 16, 2016
During the first year of her life, the patient was developing normally, but was delayed in crawling and babbling. At a year and a half, her mother noticed that she did not interact with other people and would mostly focus on objects and dirt. At age 2, she was diagnosed with autism spectrum disorder, developmental delay, candida (fungal infection), and pica.
Over time, the patient’s medical problems have gotten worse. By age 7, she was overeating and overweight. She also developed self-injurious and aggressive behaviors. At age 9, she started using a wheelchair, but was able to stop using it after starting acetyl l-carnitine. She was also diagnosed with increased bone age, seizures, and a venous malformation on her left arm.
At age 10, the patient began to have weakness on her right side and would limp. At age 13, she was diagnosed with a brain tumor (astrocytoma), which has been removed. She was also found to have a benign tumor on her adrenal gland (adrenal adenoma), a mildly enlarged liver (hepatomegaly), and a large lymph node (mesenteric).
Developmentally, the patient has minimal spontaneous speech, but mimics words and uses some signs. She has moderate to severe intellectual disability.
There is also a family history of neurofibromatosis (NF) on her father’s side.
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