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Shaken Baby Syndrome

Also known as SBS, shaken baby syndrome is a type of imposed head trauma. This trauma may occur from either throwing the child, or hitting the child on the head or by shaking the child too much. This is unlike regular head injuries because it can happen only if somebody harms the child. Many parents bring their children to the doctor very late, as they have not observed the problem in the infant in an early stage. SBS can also lead to severe brain injury, thus parents who leave their children with caretakers have to be on extra vigil for unusual symptoms. Depending on the duration of the harm caused the symptoms vary.


  • Lassitude and nausea and petulance are the main symptoms.
  • Poor sucking, decline in appetite and lack of smile.
  • Breathing trouble and seizures.
  • Unable to lift the head and to center the eyes or follow movement.
  • Pupil sizes may vary and stiffness will occur.

When the baby is shaken continuously, the head rotates in frenzy as the infant neck muscles are hardly developed and offer very little support to the head. The movement causes the brain to move back and forth inside the skull and thereby causes injury to the nerves and blood vessels and also tears off the brain tissue. As the brain hits against the inside of the skull, damage is caused to brain in the form of bruising and bleeding. If the baby's head is hit against any hard object, then the damage caused is even worse. With less damage caused the injury will heal within a period of time. If the damage caused is severe, then specific treatment has to be provided depending on the area of damage. Speech loss and hearing impairment has to be treated accordingly. The child has to be given special care and kept under constant vigil under the right care for the right kind of support.

Acoustic Neuroma

An Acoustic Neuroma also known as Vestibular Schwannoma is a slow growing tumor that develops on the cranial nerve that connects the ear to the brain. Cranial nerves are those nerves that arise directly from the brain. An acoustic Neuroma is a benign (non-cancerous) growth that forms on the sheath covering of the eighth cranial nerve called vestibulocochlear nerve. The eighth cranial nerve has two divisions, the vestibular nerve that controls the balance and the cochlear nerve that takes care of the hearing function. These two nerves are lined by Schwann cells and acoustic neuroma occurs when there is a large production of Schwann cells forming into a tumor.


Schwannoma that occurs in other peripheral nerves are largely benign unless it is a Neurofibrosarcoma - a malignant form of cancer.


Symptoms of acoustic neuroma


  • The early signs of the condition include hearing impairment in the affected ear and the balancing difficulties. Since nerves of eighth cranial are responsible for hearing and balance, the problems related to these functions are the first to surface in the initial stages of acoustic neuroma. Patient may also feel heavy or fullness in the affected ear. Hearing loss either progressively or suddenly in the affected ear is the most obvious symptom of acoustic neuroma.

  • Tinnitus is an ear condition where the patient experiences constant buzzing or ringing sounds in the ear. Though Tinnitus is a common symptom associated with acoustic neuroma, not all the cases will develop this symptom. It is also to be noted that all those who experience tinnitus do not have tumor growing on the ear nerve.

  • Vertigo and unsteadiness is the common symptom with acoustic neuroma.

  • When the tumor becomes large, it may compress the brainstem and result in headaches.

  • Though not very common, acoustic neuroma may cause facial numbness and paralysis. Large tumors may compress the fifth cranial nerve (facial nerve) called trigeminal nerve, resulting in facial numbness, pain and facial paralysis.

Diagnosis and Treatment

Diagnosing acoustic neuroma is a daunting task as the symptoms explained above are associated with many other medical conditions and it could easily be mistaken for middle ear disorder. Once suspected, doctor will advise MRI, the only test conducted to prove the presence of acoustic neuroma. Few of the hearing (audiometry) and balancing (nystagmus) tests are also conducted to assess the hearing and balance functions.


There are three options available to treat acoustic neuroma. The choice of treatment depends upon the size of the tumor, it's location and patient's age and fitness.

Micro surgery involves removing the tumor either partially or totally through surgery. Partial removal is considered when the tumor is large and the total removal leads to the damage of the facial nerve. In case of partial removal, the patient has to undergo repeated MRI scans at regular intervals to ensure that tumor is not growing again. When the tumor does not pose a risk to the adjacent nerves, one can opt for a total removal of the tumor. Though surgery is the most preferred choice of addressing the acoustic neuroma, utmost care should be taken to preserve the hearing function and the facial nerve of the patient.


Radiation is the second best option for treating acoustic neuroma. Radiation is a non-invasive treatment that uses precisely focused, narrow beams of radiation to shrink the acoustic neuroma. Currently, radiation is either delivered as single fraction stereotactic radio surgery (SRS) or as multi-session fractionated stereotactic radiotherapy (FSR). These techniques deliver high doses of radiation to the tumor and also ensure that surrounding areas and organs like brain, skull and skin receive minimum or no radiation.

SRS involves a single dose of radiation wherein multitude of radiation beams are delivered to the tumor in one single sitting. Patient need not return for treatment except for a follow up. Though SRS is very effective, it may not preserve the hearing function in most cases.

In FSR, smaller doses of radiation are given every day, over a period of three to four weeks. FSR method has better chances of preserving the hearing function compared to SRS method.


Sometimes doctors may just ask the patient to wait and watch than begin a treatment for acoustic neuroma. Holding back the treatment is most ideal when the tumor is not producing any symptoms and is small in size (less than 2 cm). Acoustic Neuroma does not require any medical intervention if the tumor is not growing rapidly. The growth of the tumor is normally observed by going for repeated MRI on a regular basis for few years. Wait and watch approach also best suits older patients with small tumors that have stopped growing. They will only be monitored periodically with the help of diagnostic tests.



Leber Congenital Amaurosis

Leber Congenital Amaurosis or LCA is an inherited retinal degenerative disease that causes severe loss of vision in infants. Retina is located at the back of the eye. It contains photoreceptors called rods and cones, through which retina captures light. It converts the light into chemical signals that go to the brain via the optic nerve to interpret it as an image. In case of Leber Congenital Amaurosis, rods and cones do not develop properly and thereby retina ceases to function effectively causing visual impairment. Though LCA can cause complete blindness, most often, infants are born with residual vision.


LCA is a genetic condition that is transmitted by autosomal recessive pattern in which both the parents carry a defective gene to result in LCA. Infants with LCA usually develop other eye related problems such as roving eye movements known as nystagmus, extreme farsightedness hyperopia, deep-set eyes, and sensitivity to bright light. Leber Congenital Amaurosis is a rare disease and only 3 in every 1,00,000 newborns are said to be affected by this condition.

There are 14 types of genes that are associated with Leber Congenital Amaurosis and mutations in any of these genes hinder the development and effective function of the retina. However mutations in the genes naming CEP290, CRB1, GUCY2D, and RPE65 are the most common causes of the LCA.


Symptoms and diagnosis

Infants with LCA may have roving and sunken eyes, cone-shaped corneas termed as Keratoconus and also exhibit oculo-digital reflex in which they press or poke their eyes regularly. Most infants also have sluggish pupils and hyperopia. Rarely, infants with LCA may also have problems with central nervous system and hearing impairment. They may experience seizure disorders, motor impairments and developmental delays.

With LCA, initially, the eyes of the infant may look normal. The diagnosis process is generally initiated after few weeks of the birth, when the infant fails to respond to the visual stimuli. The LCA cannot be easily diagnosed based on the symptoms alone as many other eye diseases also present with similar warning signs. Electroretinography (ERG) test is usually advised to evaluate the retinal function and diagnose LCA. If ERG results confirm poor retinal function, genetic testing will be performed to confirm Leber Congenital Amaurosis.


Treatment of Leber Congenital Amaurosis

No effective treatment is currently available for Leber Congenital Amaurosis. Palliative and supportive care is normally provided to the patients based on symptoms. Those with slight remaining vision are given low-vision aids, including electronic, computer-based and optical aids.

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Bibliography / Reference

Collection of Pages - Last revised Date: October 18, 2019