Doctors have shared the curious early sign of a one-in-a-million, often fatal syndrome in babies: grey hair.
Only a few hundred babies have been diagnosed with Griscelli syndrome, which decimates their immune systems to the point that a common cold becomes deadly.
The syndrome also causes problems with the cells that give color to skin and hair, meaning babies with Griscellis have grayish-white hair and sometimes lighter-colored skin.
Doctors in India have highlighted two new cases in India that they hope will raise awareness of the syndrome and help doctors diagnose it.
The second girl in the case study had gray hair on her head and soft, small hair all over her body was also light in color, doctors reported.
Doctors describe how to detect the condition and treat it, as prompt and early intervention can make all the difference in saving these children’s lives.
“Silver hair syndrome in a neonate may be a unique presentation of a serious underlying systemic disease and the exact presentation of these syndromes in the neonatal period remains less well understood,” the case report, conducted by doctors at King Edward Memorial Hospital, said in a statement.
The two babies were was born with grayish white hair at separate times in India.
Both were diagnosed with Griscelli and died within a few months of birth, according to the case report published in the journal Oxford Medical Case Reports.
The first child was born prematurely and her silver hair confirmed she had Griscelli.
The boy also had an older brother 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 being discharged, this little girl returned to the hospital because her lungs were failing.
She was septic and died within 24 hours, probably as a result of her syndrome.
The second child was born with fine, silver hair all over his body at just 28 weeks gestation.
She had a malformed left lung but otherwise appeared stable, and she was put on a ventilator to help stabilize her premature body.
Doctors diagnosed him with Griscelli syndrome. While in the hospital, he developed pneumonia and died.
These two cases are among the 769 people who have been diagnosed with the condition since it was first coined by French physician Claude Griscelli in 1978.
It is unclear how many of these cases resulted in death, but one form of the disease is particularly deadly.
Doctors are not sure whether there are more cases than they have recorded, but that count means that, on average, the condition affects 15 people a year worldwide.
There are three types of Griscelli syndrome, and while they are all united by the characteristic hair, each has huge differences in the quality of life people with the condition can achieve.
It 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 variety of symptoms.
People with type 1 diabetes tend to develop severe neurological, muscular and developmental delays. They are often able to live beyond infancy, but are unable to live without assistance and suffer severe intellectual disabilities.
People with type 2 diabetes have a history of severe infections and weak immune systems, like the two babies born in the Mumbai case study. It is the most lethal form.
This is why Griscelli syndrome is also sometimes known as Partial albinism with immunodeficiency.since sometimes the immune system is weakened.
In the USC case study, doctors were able to provide a life-saving transplant for 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 in a more serious scenario.
In severe cases of type 2, the body’s white blood cells begin to attack other blood cells, in a condition known as hemophagocytic syndrome (HS).
These abnormal cells begin to build up in the spleen and liver, causing swelling, fever, infection, and sometimes death. Dr. Saud A. AlobaidaA dermatologist at King Faisai Hospital in Saudi Arabia said: “HS usually results in death unless the child receives a bone marrow transplant.”
People with type 3 lead normal lives apart from their distinctive silver eyelashes, eyebrows and hair.
Unlike the two Mumbai cases, doctors have reported successful cases of saving babies born with Griscelli syndrome.
For example, a 2012 Study From the Keck School of Medicine of USC he described a successful case.
The baby was diagnosed with the syndrome shortly after birth, as since he was born with fair skin and thick, grey hair, and his parents had dark skin and hair, doctors immediately thought something might be wrong.
‘They mobilized to care for him quickly, transferring him to a specialized hospital two weeks after his birth.
At 5 months old, the boy received a bone marrow and stem cell transplant. Doctors reported that three months later, the patient was alive and well.