Odd teeth: A mother’s Internet sleuthing led to her daughter
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Dr. Rushabh Jain
Odd teeth: A mother’s Internet sleuthing led to her daughter’s troubling diagnosis
At first Erica, who was born in 2006, seemed much like her older brother and two sisters. One of the few differences was that she was “extremely fussy” and far more prone to respiratory infections. She also seemed slower to develop:

8 months - Unable to sit without being propped up until 8 months

9 month checkup - She was unable to crawl on all fours: instead she dragged herself by her arms, not using her legs. All other milestones were normal

12 months - She had no teeth, was unable to stand without support or crawl on all fours. Muscle tone was abnormal. She was unusually small and she barely spoke. The teeth that had erupted were in the back of her mouth, not the front, as is typical

Can anyone venture a guess? It is an extremely rare disease!
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Dr. R●●●●●h J●●n
Dr. R●●●●●h J●●n Paediatrics
Her mother refused to give up and a fair bit of Internet Surfing later she discovered that a leukodystrophy called 4H syndrome caused the condition. It’s features include hypomyelination and hypodontia. Erica’s brain was severely deficient in white matter, and her cerebellum was shrunken, about half the size of normal. Those affected do not go through puberty because the central nervous system can’t initiate it. Abnormally stiff muscles, speech difficulties and vision problems are common. No genes linked to the 4H syndrome had been discovered. Rennon enrolled Erica in a 4H research study underway at NIH.Erica’s participation was instrumental in the identification in 2011 of POLR3B, one of the genes known to cause 4H. The disorder is passed down in an autosomal dominant fashion: Affected children receive an errant gene from one parent, who may not show signs of the disorder.There is no treatment for the disorder.... Read more
Apr 4, 2017Like