Hello XXXXXXX

Thanks for the Query.

I understand your concern.

From the history and the CT findings it indicates that your nephew might be having a disorder resulting in generalized expansion and hyperplasia of the inner bone matrix.

Such conditions include the following disorders:-
1. various anemias that result in bone marrow expansion, Leukaemias, Multiple Myelomas.
2. Paget's disease - This is probably the most likely cause affecting your nephew.
3. Hyperparathyroidism.

Expansion of the bone matrix of the skull and facial bones have resulted in pressure on the nerves and structures present or passing through small spaces causing neurological damage. Hence this has resulted in loss of vision and the impending hearing issues.

You might benefit by undergoing a few tests mentioned below:-

1. A complete hemogram and Peripheral blood smear.

2. Urine analysis.

3. Serum and Urine protien electrophoresis - To rule out Multiple myeloma.

4. Serum Alkaline phosphatase levels - to rule out Pagets disease.

5. Serum calcium, Serum Phosphate, and Liver function tests.

6. A skeletal survey (panel of Xrays) - to check for involvement of other bones in the body.

You might consult your neurologist who can order these tests and initiate necessary treatment depending on the causing condition.

I hope this helps.

Regards.

Dr. Anvekar.

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Hello Again,

Here is some additional information that was missing in the answer above.

Bone consists of living cells, called osteocytes, embedded in a calcium carbonate matrix that makes up the main bone material. The calcium carbonate matrix includes inorganic mineral components like calcium and organic components, such as collagen. The replacement of old bone with new bone is mediated by two types of bone cells, osteoblasts and osteoclasts. The osteoblasts make bone, while osteoclasts resorb, or take away, bone. Problems with the ability of the osteoclasts and osteoblasts to remodel bone can result in the increased skeletal density (sclerosis) and bony overgrowth (hyperostosis).

Such conditions include the following disorders like Paget's disease and sclerosing-bone-dysplasias (Eg Osteopetrosis)

Additional test that might help to rule out in addition to the above already mentioned tests - include a Genetic study.

Treatment options might include some of the following :- calcium restriction and calcitrol, calcitonin therapy, steroids, parathyroid hormone therapy, and interferon.
These treatments help to prevent further bone growth and reduce the onset of more neurological issues.

You might consult your neurologist who can order these tests and initiate necessary treatment depending on the causing condition.

I hope this helps.

Please feel free to consult me for any doubts or other medical questions.

Regards.

Dr. Anvekar.

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Hello again,

Thanks for the follow up.

I am very sorry to know that your doctors could not find a diagnosis inspite of all the evaluation. I understand this to be very distressing.

But by the information provided to me, I would definitely recommend a relook by your doctors to reconfirm the possibility of sclerosing bone dysplasias (SBD).

The points in favor of this diagnosis are:
1. Loss of vision - Due to Pressure on the optic nerve in the optic canal.
2. Sensory neural hearing loss - with the CT providing details of intact Inner ear contents and Narrowed of Bilateral XXXXXXX Auditory Canals.

Van Buchem disease (one of the milder forms of genetic SBD) is a condition presenting in adolescence with cranial nerve compression, resulting in neurological features. This condition can be detected by genetic study which can detect mutations of the SOST gene.

In case a genetic study has not been done, this condition could can be ruled out by such a study.

In case, most of the common diseases have been ruled out, then this condition can be considered to be Idiopathic Osteopathy, which is a medical disorder characterized by periosteal new bone formation and bone thickening with no known cause.

Though there may not be a permanent cure in sight, the condition can be prevented from progressing by the medications that I have mentioned above.

For the current issue of bilateral and progressive Hearing loss, he might probably helped by sign language, use of hearing aids, and/or surgery to relieve the pressure on the affected nerves.

I would be interested in hearing more from you about all the other signs and symptoms, and current treatment measures that your nephew is undergoing and about his progress with them. This might help me to give you more possible information that might be useful to you.

Please feel free to consult me again in case of any doubts.

Regards.

Dr Anvekar.

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Hi XXXXXXX

Thanks for the additional history.

Since your niece also has been diagnosed with a similar condition, the chances of a genetic disorder being the cause has definitely increased. This is most probably of a autosomal dominant nature.

Such conditions are passed from generation to generation and can affect brothers and sisters within the same family.

Hence the possibility of this being a Idiopathic osteopathy is ruled out. Idiopathic conditions are due to unknown causes, and which do not have a genetic origin.

I can be of assistance if details regarding the current and previous treatment measures and all the investigations done so far are provided.

Awaiting further information and reports.

Dr Anvekar.

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Hello XXXXXXX

Thanks for the follow up.

Since one of the report mentions that parents of the child, had a consanguinous marriage, it is certain about this being genetic disease.

Cranio tubular dysplasia or Craniometaphyseal dysplasia - is a rare genetic condition that is associated with genetic mutations and present with increased skull density and abnormal modelling of the long bones.

These conditions in addition to the symptoms mentioned previously, are in some cases associated with issues like other body bones being involved, mental retardation, Malocclusion of the teeth, Facial and mandibular bone distortion, etc.

As I did mention in my previous answers, there is no established treatment for curing such genetic conditions which arise due to genes causing hyperplasia of the concerned bones.

The only options available are to try to provide palliative means including :-
1. Hearing aids to improve the hearing perception.
2. Sign language training - at Special centers
3. surgery to relieve the pressure on the affected nerves.

Please provide me the details with regarding :-

1. What are the current treatment measures being adopted ?
2. Has a psychological analysis - been done - to rule out mental retardation ?
3. What form of additional measures - with regard to skill development ?

I shall await any additional reports in addition to the above details so that I can provide more information on this matter.

In addition, I shall communicate with Dr Kalpana, with regard to this case and try to be of help any way i can.

Regards.

Dr Anvekar.

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