Symptoms


The following symptoms typically lead parents and doctors to test for JMML, though children with JMML may exhibit any combination of them:
  • Pallor
  • Petechiae (red broken blood vessels in skin)
  • Fever
  • Infection
  • Bleeding
  • Cough
  • Poor weight gain
  • Macular-papular (discolored but not raised, or small and raised but not containing pus), often red, skin rash
  • Lymphadenopathy (enlarged lymph nodes)
  • Moderate hepatomegaly (enlarged liver)
  • Marked splenomegaly (enlarged spleen)
  • Leukocytosis (high white blood cell count in blood)
  • Absolute monocytosis (high monocyte count in blood)
  • Anemia (low red blood cell count in blood)
  • Thrombocytopenia (low platelet count in blood)

Children with JMML and Neurofibromatosis 1 (NF1) (about 15% of children with JMML are also clinically diagnosed with NF1) may also exhibit any of the following symptoms associated with NF1 (in general, only young children with NF1 are at an increased risk of developing JMML):
  • 6 or more café-au-lait (flat, coffee-colored) spots on the skin
  • 2 or more neurofibromas (pea-size bumps that are noncancerous tumors) on or under the skin
  • Plexiform neurofibromas (larger areas on skin that appear swollen)
  • Optic glioma (a tumor on the optic nerve that affects vision)
  • Freckles under the arms or in the groin
  • 2 or more Lisch nodules (tiny tan or brown-colored spots on the iris of the eye)
  • Various bone deformations including bowing of the legs below the knee, scoliosis (curvature of the spine), or thinning of the shin bone

For more information on NF1, see: 

Children with JMML and Noonan Syndrome may also exhibit any of the following most-common symptoms associated with Noonan Syndrome:
  • Congenital heart defects, in particular, pulmonic stenosis (a narrowing of the valve from the heart to the lungs)
  • Undescended testicles in males
  • Excess skin and low hair line on back of neck
  • Widely set eyes
  • Diamond-shaped eyebrows
  • Ears that are low-set, backward-rotated, thick outer rim
  • Deeply-grooved philtrum (upper lip line)
  • Learning delays

For more information on Noonan Syndrome, see the Noonan Syndrome Community website.

Children with JMML carrying the CBL mutation may also exhibit any of the following symptoms associated with the CBL mutation (from Niemeyer et al. 2010 Nature Genetics Vol 42: pp 794–800):
  • Facial dysmorphism
  • Cryptorchidism
  • Café-au-lait (flat, coffee-colored) spots on the skin
  • Juvenile xanthogranuloma (JXG)
  • Poor growth (< 3rd percentile)
  • Developmental delays
  • Hearing loss
  • Optic atrophy
  • Hypertension
  • Cardiac myopathy


If you need help with some of the medical terms included in these pages, please use the NIH MedlinePlus Medical Dictionary

The information on this page was last reviewed in January 2013 by Dr. Christian Flotho, Division of Pediatric Hematology and Oncology, University of Freiburg, Freiburg, Germany.

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