Doctors have shared the curious early sign of a one-in-a-million syndrome that is often fatal in babies: gray hair.
Only a few hundred infants have ever been diagnosed with Griscelli syndrome, which decimates their immune systems to the point that a common cold becomes deadly.
The syndrome also leads to problems with cells that give skin and hair their pigment, meaning babies with Griscellis have gray-white hair, eyebrows and, sometimes, skin.
Doctors in India have highlighted two new cases in India which they hope will raise awareness about the syndrome and help doctors diagnose it.
Baby girl number two from the case study had gray hair on her head, and the soft, small hair all over her body was also light in color, the doctors reported
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The doctors describe how to test for the condition and treat it, as quick and early intervention can make the difference in saving these children’s lives.
‘Silver hair syndrome in a neonate might be a unique presentation of an underlying serious systemic illness and the exact presentation of these syndromes in the neonatal period remains less known,’ the case report, from doctors at King Edward Memorial Hospital said.
The two babies were born with gray-white hair at separate times in India.
They were both diagnosed with Griscelli and died died within months of being born, according to the case report published in the journal Oxford Medical Case Reports.
The first child was born prematurely, and her silver hair confirmed that she had Griscelli.
The child also had an older sibling who had been born with silver hair, and had developmental delays, but was otherwise healthy.
Doctors monitored her in the neonatal intensive care unit until she was strong enough to go home.
Just a week after she was discharged, this child came back into the hospital because her lungs were failing.
She was septic, and died within 24 hours, likely as a result of her syndrome.
The second child was born with soft, thin silver hair all over her body, at just 28 weeks of gestation.
She had a malformed left lung, but seemed otherwise stable, and was put on a ventilator to help her premature body stabilize.
Doctors diagnosed her with Griscelli syndrome. While in the hospital, she developed pneumonia, and died.
These two cases are some of only 769 people that have been diagnosed with this condition since it was first coined by French physician Claude Griscelli in 1978.
It’s not clear how many of these cases resulted in death, but one form of the disease is particularly fatal.
People with Type 1 tend to develop serious neurological, muscle and developmental delays. They often are able to live past infancy, but are unable to live without assistance
Doctors aren’t sure if there are more cases than they have record of, but that count means that on average, this condition affects on average 15 people per year globally.
There are three types of Griscelli syndrome, and while all are united by the characteristic hair, each has huge differences in the quality of life people can achieve with the condition.
This is a genetic condition that affects the amount of pigment in the hair, but each type affects a different biological system, and therefore causes a range of symptoms.
People with Type 1 tend to develop serious neurological, muscle and developmental delays. They often are able to live past infancy, but are unable to live without assistance, and deal with severe intellectual disabilities.
People with Type 2 have a history of severe infections and weak immune systems, like the two babies born in the Mumbai case study. It is the most fatal form.
This is why Griscelli syndrome is also sometimes known as partial albinism with immunodeficiency, since the immune system is sometimes taken out.
In the USC case study, doctors were able to provide a life saving transplants that spared the life of the child born with Griscelli syndrome
If treated early with bone marrow or stem cell transplants, babies can survive this form, but many cases end up in a more dire scenario.
In severe type 2 cases, the body’s white blood cells begin attacking other blood cells, in a condition known as hemophagocytic syndrome (HS).
These abnormal cells start collecting in the spleen and liver, causing swelling, fever, infection and sometimes death. Dr Saud A Alobaida, a dermatologist from King Faisai Hospital in Saudi Arabia, said: ‘HS usually results in death unless the child receives bone marrow transplantation.’
People with Type 3 lead a normal life aside from their distinct silvery eyelashes, eyebrows and hair.
Unlike the two cases in Mumbai, doctors have reported successful cases of saving babies born with Griscelli syndrome.
For example, a 2012 study from the USC Keck school of medicine described a succesful case.
The baby was diagnosed with the syndrome shortly after birth, since he was born with light skin and thick, gray hair, and his parents had dark skin and hair, doctors immediately thought something could be off.
‘They move to treat him quickly, transporting him to a specialized hospital within two weeks of his birth.
At 5 months old, the child received a bone marrow and stem cell transplant. Doctors reported that three months later, the patient was alive and well.
