Hanoch's Story: Langerhans Cell Histiocytosis
When your baby is 15 months old you expect him /her to start growing new teeth, not for teeth to start falling out. This was our first encounter with LCH, in 1987.
Hanoch was just 15 months old when a fever after a vaccination prompted us to take him to the doctor. Hanoch didn't like the examination and as he was screaming his head off, mouth wide-open, the doctor noticed a strange-looking tooth which he said had to be extracted immediately because it didn't seem to be attached properly, could easily be swallowed and could cause Hanoch to choke.
This started us on a whirlwind of visits - dentist, emergency room (because the gums were oozing pus), and then maxillofacial surgery. We were very lucky to have a wonderful surgeon who immediately recognized what he was looking at even though an X-ray of the area showed up nothing unusual. He took a biopsy there and then, and afterwards led us the way down the corridor to hematology where he introduced us to one of the doctors. The department of hematology was a whole new world where we learned how to take our baby for skeletal surveys, bone, liver and CT scans. The diagnosis came back as eosinophilic granuloma which is what Langerhans cell histiocytosis (LCH) was then called. X-rays revealed lesions in the skull in addition to the lesions in the jaw. Hanoch was given treatment with Prednisone for 3 months and we continued with follow-up for a few years with no further problems. He was short for his age, so his growth was regularly charted by an endocrinologist even after we left hematology.
When he was about 7 years old, he developed strange circular, crusty indentations on his scalp. A dermatologist had this tested for fungus which came back negative. (We did not know that LCH could occur on the skin otherwise we would have requested a biopsy for histio). We never knew what this was, but after a few months it disappeared.
Never being able to go more than 2 or 3 years without something out of the ordinary happening, Hanoch started suffering from wheezing and shortness of breath which was suddenly followed by asthma-like attacks when he was 9 years old. These attacks were often triggered when eating a juicy candy or drinking fizzy drinks which seemed to go down the wrong way. We took him to a pulmonologist who diagnosed asthma. He was started on a cortisone inhaler which he still uses.
At the age of 15, just as Hanoch was catching up to his projected growth, the endocrinologist noticed he had suddenly stopped growing and lost weight. This began a search for the reason. Tests of all the growth hormones came back showing all was normal, but a raised IgA level raised the doctor's suspicion. Hanoch was sent for an endoscopy to see if he might have celiac disease. This came back as negative, but the doctor was still not completely satisfied that all was well, so Hanoch was put on the waiting list (two and a half months) for an MRI. Within 3 days, we had the answer - he had a mass in the hypothalamus which was assumed to be a recurrence of the disease. The endocrinologist immediately got in touch with a hematologist. Tests which had long been forgotten by us became part of our lives again. Due to the lesion being so deep in the brain, we were advised that it was too risky to take a biopsy. In the light of his history, LCH was the assumed diagnosis. Hanoch was started on treatment with Vinblastine and Prednisone. Five weeks into treatment, he spiked a fever which lasted nearly 6 weeks. The next MRI showed up new lesions that had spread to the cerebellum, meninges and brain stem.
MRI was followed by a lumbar puncture, and two days later we were introduced to a neurosurgeon. A biopsy of the cerebellum was scheduled to confirm the diagnosis. That was a day in the doctor's office that we won't forget so quickly, Hanoch in floods of tears and ourselves in utter shock and dismay. BRAIN SURGERY!
Thankfully, the surgery went well and Hanoch made a speedy recovery though the stitches were blood-curdling. He had some serious memory loss for about a month after surgery which was terrifying for us. Getting a definitive answer for the diagnosis turned out to be an agonizingly long drawn-out process. The hospital pathologist was unsure whether it was astrocytoma or histiocytosis, so the samples were sent to a different hospital for evaluation. When this drew an inconclusive answer, the samples were sent to the United States. We were requested to send fresh samples to Austria. Ten weeks after biopsy we received the reply confirming Langerhans cell histiocytosis with both a granulomatous process and a neurodegenerative inflammatory process.
By this time Hanoch’s memory had improved and an MRI showed that the mass in the hypothalamus was receding while the lesions in the pons were unchanged. Another skeletal survey was clear. The hematologist wanted a wait and see approach. I was very fearful, but Hanoch settled happily back into school and we got back into our routines. He was still complaining of his swallowing and he had choked very seriously, turning blue more than once, giving us the frights of our life. We finally got a consultation with a neurologist. He immediately recognized that Hanoch had issues with speech and language and mild co-ordination problems. Hanoch was sent for a video fluoroscope to test his swallowing and for neuropsychological testing which showed marked impairment of certain cognitive and motor skills (not a surprise to us). All this took several months. We were now at March 2004. Hanoch began to complain of his leg falling asleep and going numb several times a day. The hematologist decided treatment should be resumed. After many discussions, it was decided to try high dose intravenous immunoglobulin. Treatment began with 5 monthly courses of IVIG from June 2004 until October 2004, each course entailing 5 consecutive days of 3 hourly IV infusions. In November 2004, treatment was reduced to a maintenance level of 2 consecutive days of 3 hourly IV infusions of immune globulin.
Hanoch's LCH involves the central nervous system (CNS): hypothalamus, optic chiasm, meninges, cerebellum, pons and medulla. There is a process of ongoing damage to the neurons or nerve cells.
Graphic of the brain structure. Taken from http://webschoolsolutions.com/patts/sytems/nervous.htm
Graphic of the neuron or brain cell, taken from http://webschoolsolutions.com/patts/sytems/nervous.htm, illustrates how the brain cells communicate with each other. The cell body contains the nucleus, while the dendrites, these hair-like structures act as receivers and bring in incoming signals. The axons, varying in length from a millimeter to a meter, are the transmitters for the outgoing signals.
Hanoch, now 24 years old, manages well in spite of the complications that LCH in these areas of the brain has caused him. He has some learning disabilties, slight speech disorder, mild co-ordination problems and difficulties with swallowing. The LCH in the jaw has left him with several missing teeth and a lot of dental decay, but that seems a small price to pay compared to the damage that LCH can cause in the brain.
Effective treatment for these particular lesions in the central nervous system has not been determined. Like those who have been affected by scarring in the lungs and the liver, we are running a race against time to find the key to the disease . Will the LCH remain non-active and can the inflammation and scarring in the brain be halted? Finding the cause of the disease will help us come closer to better treatments and maybe even a cure. Hanoch is currently receiving treatment with intravenous immunoglobulin in the hope of keeping the disease stable.