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Participant 015

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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)

Date of Report

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.

Symptoms / Signs
  • Global developmental delay
  • Developmental regression
  • Intellectual disability
  • Autism spectrum disorder
  • Absent speech
  • Overeating (polyphagia)
  • Sleep disturbance
  • Self-mutilation and injurious behavior
  • Pica
  • Inappropriate laughter
  • Aggressive behavior
  • Impulsivity
  • Hyperactivity
  • Short attention span
  • Poor eye contact
  • Brain tumor (astrocytoma)
  • Benign adrenal gland tumor (adrenal adenoma)
  • Abnormality of the brain (demyelinating brain lesions)
  • Central nervous system infection
  • Seizures (status epilepticus)
  • Tall stature
  • Increased bone age (accelerated skeletal maturation)
  • Obesity
  • Large head size (macrocephaly)
  • Large forehead
  • Upturned nose (anteverted nares)
  • Mild extension of lower jaw (mandibular prognathia)
  • Narrow mouth
  • Large lymph node (mesenteric)
  • Single crease on palm (transverse palmar crease)
  • Increased finger joint flexibility (hypermobility)
  • Small skin bump (papule) on left and right elbows
  • Eczema
  • Areas of light and dark colored skin (mixed hypo- and hyperpigmentation of the skin, multiple small nevi on abdomen, back and legs)
  • Fat pad on back (increased adipose tissue)
  • Venous malformation
  • Respiratory failure
  • Collapsed lung (atelectasis)
  • Bone infection (osteomyelitis)
  • Hyperextensibility of the knee
  • Difficulty balancing (postural instability)
  • Muscle weakness
  • Right-sided weakness (hemiparesis)
  • Low muscle tone (muscular hypotonia)
  • Overactive reflexes (hyperreflexia)
  • Peripheral neuropathy
  • Acid reflux (gastroesophageal reflux)
  • Mildly enlarged liver (hepatomegaly)
  • High cholesterol levels (hypercholesterolemia)
  • High lipid levels (hyperlipidemia)
  • Low thyroid hormone (hypothyroidism)
  • Precocious puberty
Current Treatments
  • Acetyl l-carnitine- weakness
  • Keppra- seizures
  • Melatonin- poor sleep
  • Trazadone
  • Trileptal- seizures
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Smith-Magenis syndrome
  • Neurofibromatosis
  • Metabolic condition
  • PTEN hamartoma tumor syndrome
  • Fragile X syndrome
  • Microdeletion/duplication syndrome
Other Photographs
Genetic Variants of Interest

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