Rarity of the central nervous system leptomeningeal hemangioblastomas

If you have the most unusual diseases known to humankind it becomes a fateful condition where you can't afford to be ignorant if you desire quality and extension of your life.

Few diseases of the present have little in common with the diseases of the past because of their rarity but like an owl, you have to pore over abstruse medical documents and make it your pastime.

When you are bombarded with heavy-duty medical words of a mysterious sickness as your diagnosis by medical men don't become trifle too dreamy and treat their words as gospels. I faced a peculiar outbreak of blind rage and reprisal in the unfunny days of my first brain tumour.

I spoke with authority because it was my body he would work upon and if he doesn't do a very careful job with his scalpel with full knowledge of what he was about to do then my fragile life bird would have flown away. 

So better not stare at them with stupefaction, even the most brilliant medical mind can make mistakes and it happened with me twice… when unwary surgeons worked for hours to save a patient's life, noted a minute detail but failed to test it for any further implications... next time it was when their negligence led to the other doctor saying "Everything is in God's hands" and I ended up showing an upturned thumb because God showed them the right path. They are not omnipotent, they use their acquired knowledge and skills to save a life.

I have a very serious condition known as "Abibliophobia" but I am not here to explain that. I am not going to reveal how I deal with it. It has no cure, if you really have it, you will slowly learn how to deal with it but I must warn you there's no recovery.

Strange but true we are afloat in a broad sea anchor-less,

Fear sets in when we shed a tear in aloneness,

Ah! What a mess!

" Have no fear!" said Hope,

"When the day gets sunny,

We will have a lot of things that are very funny."

So I say never stop believing in hope because miracles can happen any moment! You never know being optimistic can make the wave of "Hope's"  magic wand turn your life! 

A lot should be shared with others from what I have learned in a simplified way, so here it goes…

Brain tumours grow within a rigid, firm bony skull. Benign, slowly growing or malignant brain tumours may produce serious neurological symptoms and signs prior to treatment or cure but rarely metastasize outside the central nervous system (CNS), disability and death occur when the intracranial contents exceed the intracranial space, causing herniation and compression of respiratory centres.

Fewer than 5% of patients with brain tumours have a predisposing genetic syndrome. The most common of these are von Recklinghausen's types I and II neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease, and the epidermal nevus syndrome. These dominantly inherited neurocutaneous syndromes are associated with an increased incidence of specific tumours.

von Hippel-Lindau or VHL which is a genetic defect that causes capillary growth to go out of control. While the tiniest blood vessels or capillaries usually branch out gracefully like trees, in VHL patients a little knot of extra capillaries forms a growth or tumour and in certain cases, it turns cancerous. It is a genetic form of cancer VHL patients battle a series of tumours throughout their life. 

VHL may occur in up to 10 organs of the body like liver, kidney, brain, spinal cord or retina, inner ear, pancreas. There is also a possibility of neuroendocrine tumours.

To know about leptomeningeal hemangioblastomas we need to know about meninges or the coverings of the brain.

Meninges are the three membranous envelopes—pia mater, arachnoid, and dura mater, that surround the brain and spinal cord. Cerebrospinal fluid fills the ventricles of the brain and the space between the pia mater and the arachnoid. The primary function of the meninges and of the cerebrospinal fluid is to protect the central nervous system.

The two innermost layers of tissue, arachnoid mater and pia mater that cover the brain and spinal cord are together called the leptomeninges.

Now we come to Leptomeningeal dissemination of Hemangioblastomas

Hemangioblastomas of the CNS are solid or cystic vascular-rich tumours, most common in the cerebellum, less frequent in the brainstem or spinal cord and rare in supratentorial locations with meningeal involvement. 

Hemangioblastomas of the central nervous system are the most common tumours seen in patients with von Hippel-Lindau (VHL) disease.

Leptomeningeal dissemination of hemangioblastomas (HB) of the central nervous system (CNS) is extremely rare. Between 1902 and 2013, approximately 132 cases were reported. Few studies have reported leptomeningeal involvement in sporadic HB or in HB associated with von Hippel­Lindau syndrome.

Diffuse infiltration of the leptomeninges is known as hemangioblastomatosis and has been observed both in VHL disease and in patients with spontaneous mutations. 

No effective therapy has been established.

Detecting and treating the condition of leptomeningeal hemangioblastoma without delay seems to help survival, though the number of patients analysed is small. 

Because no case of de novo development of disseminated HB without previous surgery has been reported, it is strongly suggested that the spillage and spread of tumour cells through the CSF space may be an origin of hemangioblastomatosis in patients with a genetic predisposition to the condition, Care should be taken to avoid tumour cell spillage during surgery.

Prior to surgery of the initial tumour, planned embolization should be undertaken if possible to reduce blood loss. However, depending on the actual tumour structure embolization may be found not to be possible. Reducing blood loss may also help in reducing tumour cell spillage and spread.

 Looking at tumour cells in the spinal fluid under high-resolution MRI scans are all that is necessary for an accurate diagnosis. A biopsy isn't required for diagnosis as it may cause meningitis and blood loss thereby cell spillage. 

I was diagnosed with supranational leptomeningeal hemangioblastomas in 2013. I have been seeking anyone experiencing the same condition but didn't find anyone till now. So I consider myself a myth, a unicorn more so because a fellow remarked after he saw the picture of the scan of numerous lesions scattered throughout my brain,

" You have more tumours in the brain than people have lice in hair.''

There is no data on the competence of the surgeons and equipment used in the initial CNS surgery so trying to determine if cell spread was caused by any incompetence during my brain surgery (craniotomy) in 2006 would be extremely difficult if not impossible to prove beyond a reasonable doubt. The fact that the physiology of each tumour is different and the number of cases is so small means that an accurate comparison of surgeons is impossible. 

I get stereotactic radio-surgery before the growing tumours start putting pressure on the brain. I have lost vision of my right eye for not being able to avail radiation therapy at the right time because of financial reasons and also because  I was diagnosed with kidney cancer at the same time. 

Advanced radiation techniques, such as radiosurgery, are more effective than conventionally fractionated radiotherapy. 

Radiosurgery appears to be safe and has prevented local recurrences in my case, than conventional radiation which caused white matter changes representing chronic ischemic changes. I couldn't afford a cyberknife and underwent conventional radiation therapy in 2017 after which this happened. 

Sometimes tumours treated with radiation, on follow-up MRI imaging scans, appear stable without evidence of growth even mildly shrinking every time. 

I would like to add a little bit about an unexplored safe technology

It is a new exciting technology which may help people trying to minimise collateral damage which with radiation treatments has always been the challenge. 

The precision of proton therapy can be critical for protecting the brain’s delicate tissues. 

To treat more people with proton therapy is by making the technology even more accessible. Currently, this technology is available only in Apollo Chennai and expensive enough to cost an arm and leg. But in my case, they are totally confused, "It is not a straight-forward case" they remarked hence they need a fresh MRI to decide and talk to my previous doctors.

I keep myself well-informed so that I don't fall into the wrong hands. I love learning and gaining knowledge which brought in understanding, comprehension, a better grasp of my bizarre diseases, not to be afraid of death or lead an unlived life like a zombie.  Because in the end we only regret the chances we didn't take. Live life to the fullest and try bringing colour to my life. I feel alive, not just breathing. 

My only wish is that next World Brain Day will be dedicated to Leptomeningeal hemangioblastomas.

Sketch by Rishabh Khushwaha and Picture by Akash Sharma  Amish Masarani

From: https://timesofindia.indiatimes.com/blogs/warrior-princess/the-rarity-of-the-central-nervous-system-leptomeningeal-hemangioblastomas/