Achondroplasia

**What is Achondroplasia?**

Achondroplasia is the most common skeletal dysplasia and is caused by defective fibroblast growth factor receptor 3 in endochondral chondrocytes. Achondroplasia may have high cervical myelopathy due to stenosis of the craniocervical junction. Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism, which is a bone growth disorder that is the most common type of growth hormone deficiency. This condition leaves the average adult at a short stature, reaching a height of only 4 feet to 4 feet ½ inches tall. This pathology affects approximately 1 in 25,000 people.

**Causes**

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increases to 75%. Most cases appear as spontaneous mutations though.

**Symptoms**

Achondroplasia is most often evident at birth. Characteristic features can be seen with diagnostic radiology, with other imaging modalities, and ultrasound. With ultrasound, the diagnosis of achondroplasia can sometimes be suspected before birth. Some of the symptoms include, but are not limited to: Abnormal hand appearance with persistent space between the long and ring fingers, bowed legs, decreased muscle tone, disproportionately large head-to-body size difference, prominent forehead, shortened arms and legs, short stature, spinal stenosis, spine curvatures called kyphosis and lordosis. Achondroplasia symptoms may also be associated with several health problems, including breathing disorders, obesity, and recurrent ear infections.

**Treatment**

There is no specific treatment for achondroplasia. It is important that all patients with this condition have regular visits with their physician to make sure that possible symptoms of this pathology are prevented if possible. There are a number of medical complications that patients with achondroplasia will go through, but patients with this condition have normal intelligence and can live a normal life span. The most important thing for a patient that is diagnosed with achondroplasia is to remember they are capable of doing almost all the task that an average adult can. Patients just have to learn to adapt with the environment and make changes to accommodate for their height difference.







This is Amy and Matt Roloff. They are from the t.v. show Little People Big World on TLC. Amy and Matt both have achondroplasia (dwarfism). They have 4 children, 1 with achondroplasia too and the other 3 are average height.











Image of the lower limbs/pelvis of a patient with Achondroplasia.

Hand radiograph of a patient with Achondroplasia.

Blowout Fracture

I choose this pathology because this happened to my mom about 18 years ago. She was playing 3rd base in a softball game, the batter hit a line drive right at her and before she had time to react the softball hit her right in the “cheek bone,” better known to us as the maxillary bone. This blunt trauma ended up fracturing part of her maxilla and zygoma. Today, she has 2 different metal plates in her face, one medially holding together her zygoma and one across her maxillary bone.

**What is a blowout fracture?**
A blowout fracture is a fracture to the orbital floor. Blowout fractures are caused by direct trauma to the globe that may cause decompression and pressure to the eye. This blunt trauma can be caused by things such as sports accidents, automobile accidents, or even occupational injuries. The orbits around the eye socket are very thin, with enough pressure they will break. When the bone breaks the globe and surrounding muscles tend to settle into the fracture. If this occurs the muscles can become trapped in the fracture and the injured eye will not move properly. Generally, the eye itself is not affected. Luckily for my mom, she did not experience any difficulties in the movement of her eye and has had no vision problems evolve since the accident.

**Symptoms**
Symptoms of a blowout fracture may include, but are not limited to, blurred vision, difficulty in moving the eye, swelling or bruising around the eye, double vision, blood in the white area of the eye, and eye pain. These symptoms usually take place right after the trauma occurs. In the instance of my mom, she had immediate swelling and bruising of the eye. There was blood in the white area of her eye and she experienced extreme pain when trying to move her eye. One other thing that she experienced was that her entire cheek was numb immediately after contact.

**Treatment**
In some cases, blowout fractures may heal themselves, but are carefully monitored. When surgery is not required it is mostly likely because a muscle is not trapped or less than 50% of the floor of the orbit was affected. In other cases, surgical repair is required. This is usually performed when an eye muscle is trapped in the fracture, or if there is extensive involvement of the bones of the orbital floor. Majority of surgeries to repair the orbital bones is done 1 to 2 weeks after the injury has occurred so that any swelling can subside. In most cases an implant is used for reconstruction. After surgical repair the patient’s eye sight must be monitored often until discharge. The patient should also be instructed to avoid strenuous activity and blowing their nose for at least 2 days. In the case of my mom, she was immediately taken to the hospital where x-rays were preformed. She was told by the doctor that there was no injury to her orbital area. Two weeks after the accident she still had a little swelling and bruising, but the pain had diminished to a tolerable level. She had a dentist appointment about 2 weeks after the accident, and as soon as her dentist evaluated her he suggested that she get another opinion because he believed that she had a fractured orbital floor. Two days after seeing her dentist and getting another doctor referral she was going to surgery to repair her zygoma and maxilla. The doctor placed 2 metallic rigid miniplates in her face.





Blowout fracture in a 14-year-old boy after a blow to the left eye. Coronal reformatted CT image obtained with soft-tissue window settings shows a thickened and rounded appearance of the inferior rectus muscle (*), a finding indicative of muscle impingement, and depicts a hemorrhage in the left maxillary sinus (arrowhead).

A classic radiographic finding in blow-out fractures is the presence of a polypoid mass (the tear-drop) protruding from the floor of the orbit into the maxillary antrum The tear-drop represents the herniated orbital contents, periorbital fat and inferior rectus muscle.

Optic Nerve Glioma

**What is Optic Glioma?**
Optic gliomas affect the optic nerve of the eye. These tumors are created by the development of abnormal cells. The optic nerves function is to carry visual information from the brain to the eye. These tumors also affect the optic chiasm. This is the area where the optic nerve from each eye crosses over each other just anterior to the hypothalamus. Optic Gliomas are very rare and the cause of them is unknown. These tumors are benign and slow growing. They generally affect children before the age of 20. Many believe that the optic glioma is associated with neurofibromatosis Type 1 (NF1). NF1 is characterized by the growth of tumors along nerves in the brain, skin, and other parts of the body.

**Symptoms**
Patients can have vision loss in one or both of their eyes that can lead to blindness. Some patients may also have a decrease in peripheral vision. Other symptoms that may occur are squinting, bulging of one or both of the eyes, and involuntary movement of the eyeball. Some patients may also have delayed growth, loss of appetite, and a malfunction in melatonin.

**Treatments**
Treatment varies with the size of the tumor. The goal of treatment is to cure the disorder, relieve symptoms, and improve vision. Surgical removal may cure optic gliomas. Partial removal of the tumor occurs in many cases to minimize pressure on the brain from the tumor. Another form of treatment is radiation therapy. The newest technique to remove this tumor creates a 3D image of the brain and glioma and then irradiates the tumor in a number of different directions. Head CT scans and head MRI scans are used to confirm the diagnosis and location of the tumor.

**Prognosis**
The outlook is unpredictable. Early diagnosis and treatment increases the chance of a positive outcome. Majority of the time surgery cures the symptoms, while in some patients the tumor will return. This condition tends to be stable for along period of time since the tumor is very slow growing. Tumors may behave aggressively though depending on what area of the brain it affects.

Magnetic resonance image of a large retrobulbar optic nerve tumor

This child developed visual difficulties and was discovered to have a glioma (nerve tumor) in the optic nerve. The tumor has enlarged the bony opening (optic foramen), through which the optic nerve passes. This can be seen on the right side of picture.

Craniopharyngioma

**What is Craniopharyngioma?**

It is a slow growing, benign tumor that develops near the pituitary gland from embryonic tissue. This tumor is rare and generally affects children between the ages of 5 and 10. It is possible for an adult to be affected by this condition, but is uncommon. This specific tumor tends to disrupt the development of the skull completely and places stress on the pituitary gland, resulting in increasing pressure on the brain.

**Symptoms**

Symptoms tend to differ with age. Some of the most noticeable are: headaches, nausea, vomiting, delayed development in children, disruption in the proper function of the pituitary gland, and sometimes can affect the optic nerve. With disruption in the pituitary gland many children have hormone imbalances. This can lead to extreme thirst and urination abnormalities. The optic nerve damage can lead to vision problems and sometimes blindness. Symptoms that occur from Craniopharyngioma are often permanent and require surgery.

**Treatment**

The main treatment suggested by physicians to patients with Craniopharyngioma is surgery. In some cases the entire tumor is removed and in other patients on a portion of the tumor can be removed. Another choice that patients can choose is radiation therapy. This is the most recent treatment being utilized, but since it generally affects patients between the ages of 5 to 10 it is not always recommended.

**Prognosis**

After surgery, most patients can have about an 80% full recovery. There is a possibility of complete recovery if the entire tumor can be removed. The damage to the pituitary gland and optic nerve generally never completely heal and the patient can still experience hormone imbalances and often times vision problems even after surgery. In some cases these problems can become worse after surgery.

CT scan of the brain showing a craniopharyngioma (white structure in the center of the image).

www.medgle.es

Sagittal MR image obtained in a 10-year-old girl harboring a giant craniopharyngioma.

www.medscape.com

Bell’s Palsy

I chose this pathology because my boyfriend’s brother was diagnosed with Bell’s palsy about 10 years ago at the age of 25. I am interested to know more information about this pathology so I can find out more about his specific condition.

**What is Bell’s Palsy?**

It is the paralysis or weakness of the facial muscles, most often caused by irritation to the facial nerve or what we know as the 7th cranial nerve. Some may think it is caused by a stroke or TIA, but there are no known causes to why this occurs. There are many myths on why Bell’s Palsy transpires, but most believe it is linked to a viral infection from a form of herpes, most commonly what we call cold sores. Some other beliefs of occurrence are headaches, ear infections, the flu, or even diabetes. When inflammation of the facial nerve takes places most patients lose the ability to smile or frown. Some patients may also lose control of their tear ducts or taste buds from the damage to the 7th cranial nerve. Majority of the time only one side of the face is affected. My boyfriend’s brother lost function of only one of his facial nerves and is unable to smile on the left side of his face. He still has the ability to smile on the right side of his face, and did not lose control over his tear ducts or taste.

**Symptoms**

The most obvious symptom is weakness in one side of the face. Symptoms that may be noticed prior to total lose or partial lose of the 7th cranial nerve are drooling and a droopy appearance to the face. Most patients’ do not even notice these symptoms and tend to lose the sensation in one side of their face in about 24 to 48 hours. I know that my boyfriend’s brother just woke up one morning and his face felt somewhat abnormal but he thought nothing of it, that night he went to the ER and was diagnosed with Bell’s Palsy. It is somewhat of a pathology that just sneaks up on you and one you can’t prevent from happening. Bell’s Palsy generally occurs after the age of 15 and before the age of 60. Men and women can both experience the symptoms. Pregnant woman and patients with high blood pressure are at a slightly higher risk of developing this condition.

**Treatment**

There is no specific cure or treatment for this pathology. Each patient is affected differently. Some symptoms can be mild and the patient could be back to normal in 2 weeks and other patients may never go back to normal. In most cases the patient does not receive any treatment at all and still has the ability to recover completely. In extreme cases surgery may take place. Today, majority of patients diagnosed with Bell’s Palsy are prescribed a drug known as prednisone. It is a type of steroid that is believed to reduce the inflammation of the nerve and can possibly shorten the recovery time. My boyfriend’s brother is on this medication but continues to experience the same symptoms he has the past 10 years. The doctors he has seen are unsure if he will ever fully recover from this condition, but all tend to believe he will receive partial control of his smile someday.

Picture of a man with Bell's Palsy trying to smile

Contrast-enhanced, fat-suppressed, high-resolution, coronal, T1-weighted MRI shows asymmetric enhancement of the mastoid segment (arrows) of the right facial nerve.

http://download.imaging.consult.com/ic/images/S1933033207739502/gr3-midi.jpg

ASTROCYTOMA

**What is Astrocytoma?**
Astrocytomas are a type of Glioma which arises from Glial cells found in the brain that make up half of the Central Nervous System. We would refer to these cells as “supporting cells.” So as you can tell these cells play a big role in our brains function, which is why these types of tumors can be deadly. There are two main types of astrocytomas; low grade and high grade. Some of the more common low-grade astrocytomas are:

Juvenile Pilocytic Astrocytoma (JPA)
Fibrillary Astrocytoma
Pleomorphic Xantroastrocytoma (PXA)
Desembryoplastic Neuroepithelial Tumor (DNET)

The two most common high-grade astrocytomas are:
Anaplastic Astrocytoma (AA)
Glioblastoma Multiforme (GBM)

Low grade are usually found in a specific area and do not grow that fast, but high grade tend to grow very rapidly and require a great amount of treatment. These tumors occur anywhere in the brain and spinal cord. Most often you will find them in the cerebellum, the right or left cerebral hemisphere, the thalamus, or the hypothalamus.

**Symptoms**
These tumors have a tendency to grow rapidly, so the faster it grows the more pressure that is going to be felt in the skull by the patient. This can lead to nausea, vomiting, and depending where it is located a possible change in mental status. Some other symptoms that may be visible are mood swings and a change in sleep patterns. Symptoms that occur tend to localize where the tumor is located in the brain. Some other frequently seen symptoms are unsteadiness, weakness, vision impairment, and the possibility of seizures. Each patient will experience different symptoms depending on where the tumor is located.

**Treatments** The options for treatment naturally depend on the type of astrocytoma, where it is located, what stage it is at, etc. before any action can be taken. One of the first choices of treatment for a low grade astrocytoma is surgical removal of the tumor. Majority of patients will have normal functioning ability for a couple years after surgery, but do risk the possibility of the tumor coming back. In the case of a high grade astrocytoma there are not many choices to pick from to treat the tumor. Many times patients will begin to just focus on palliative care when the tumor has reached this stage. Another option patients have to treat the tumor is radiation therapy. This can sometimes benefit patients in reducing the size of the tumor. Majority of the time when it comes to high grade tumors there is no treatment that will save the patients life. Treatments for these types of tumors are still in the works, but surgeons are doing their best to discover these tumors at low grades so that something can be done and a life can be saved.

4 -year-old girl with pilocytic astrocytoma. Axial T2-weighted MR image shows that lesion is hyperintense

http://www.ajronline.org/content/vol179/issue1/images/large/07_AB0329_04B.jpeg

Astrocytoma. This MRI shows a supratentorial glioblastoma multiforme.

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