Stomach cancer is referred to as gastric cancer. The most common type of gastric cancer is called adenocarcinoma. This starts in the glandular tissue that composes the lining of the stomach and accounts for 90% to 95% of all gastric cancers. Other forms of gastric cancer include lymphomas, which involve the lymphatic system and sarcomas, which involve the connective tissue (such as muscle, fat, or blood vessels).

Generally, the best chance for cure of gastric cancer is when it is found and treated at a very early stage. Unfortunately, the outlook is typically poor if the cancer is already at an advanced stage when discovered.

Gastric cancer can develop in any part of the stomach and may spread throughout the stomach and to other organs, such as the esophagus, liver and lungs.  Gastric cancer is responsible for about 800,000 deaths worldwide per year.

The signs/symptoms include indigestion and/or heartburn, loss of appetite, especially for meat, abdominal discomfort or irritation, weakness and fatigue, bloating of the stomach, usually after meals, abdominal pain in the upper abdomen, nausea and occasional vomiting, diarrhra or constipation, weight loss, vomiting, blood in the stool, which will appear as black. This can lead to anemia, and dyspagia (trouble swallowing), which suggests a tumor in the upper protion of the stomach or extension of the gastric tumor into the esophagus.

The diagnosis is typically made when abnormal tissue seen in a direct visual (gastroscopic) examination is biopsied. This tissue is then examined under a microscope to check for the presence of cancerous cells. A biopsy, with subsequent histological analysis, is the only sure way to confirm the presence of cancer cells.

The clinical stages of stomach cancer are:

Stage 0. Limited to the inner lining of the stomach.

Stage I. Penetration to the second or third layers of the stomach (Stage 1A) or to the second layer and  nearby lymph nodes (Stage 1B).

Stage II. Penetration to the second layer and more distant lymph nodes, or the third layer and only nearby lymph nodes, or all four layers but not the lymph nodes.

Stage III. Penetration to the third layer and more distant lymph nodes, or penetration to the fourth layer and either nearby tissues or nearby or more distant lymph nodes.

Stage IV. Cancer has spread to nearby tissues and more distant lymph nodes, or has metastatized to other organs.

Treatment for gastric cancer depends on both the tissue type and the stage of the cancer. Treatment for adenocarcinoma may include:

1. Surgery– the goal of surgery is to remove all of the cancer and allow for a margin of healthy tissue,  when possible. The surgeon also removes lymph nodes surrounding the stomach to determine if they  have been invaded by cancer cells. Removing part of the stomach may relieve signs and symptoms of a  growing tumor in people with advanced stomach cancer. In this case, surgery generally does not cure the  cancer, but it can make the patient more comfortable. This is known as palliative therapy.

2. Radiation Therapy-uses high-powered beams of energy to kill cancer cells. It can be used before surgery (neoadjuvant radiation) to shrink a stomach tumor so it’s more easily removed. Radiation therapy can also be used after surgery (adjuvant radiation) to kill any cancer cells that might remain.  Radiation is often combined with chemotherapy. In cases of advanced cancer, radiation therapy may be  used to relieve side effects caused by a large tumor. Radiation therapy can cause diarrhea, indigestion,  nausea and vomiting.

3. Chemotherapy-is a drug treatment that uses chemicals to kill cancer cells. Chemotherapy drugs can  kill cancer cells that may have spread beyond the stomach. Chemotherapy can be given before surgery  (neoadjuvant chemotherapy) to help shrink a tumor so it can be more easily removed. And it can be  given after surgery (adjuvant chemotherapy) to kill any cancer cells that might remain in the body.    Chemotherapy is often combined with radiation therapy. Chemotherapy may be used alone in patients  with advanced stomach cancer to help relieve signs and symptoms. Side effects of chemotherapy depend  on which drugs are used, and which drugs are used depends upon the type of cancer being treated.

4. Clinical Trials-are always being done at research cancer centers to study new treatments and new ways of using existing treatments. Participating in a clinical trial may give a patient a chance to try the  latest treatments. In some cases, researchers might not be certain of a new treatment’s side effects.

Depending on the stage at diagnosis, the average 5 year survival rates for adenocarcinoma of the stomach are as follows:

Stage Ia – 71%

Stage Ib – 57%

Stage IIa – 45%

Stage IIb – 33%

Stage IIIa – 20%

Stage IIIb – 14%

Stage IV – Less than 4%.

Medical malpractice may be seen when there is a significant and negligent delay in the diagnosis of gastric cancer. As the above shows, if the diagnosis is delayed, and the stage advances, the prognosis for 5 year survival rates becomes poor.  During patient screening, a doctor should be aware of the risk factors for gastric cancer that include smoking cigarettes, a diet high in salted, smoked, pickled meats or foods, stomach inflammation, a history of Helicobacter pylori infection, gastric polyps, pernicious anemia, and a family history of one or more relatives diagnosed with gastric cancer.  Screening for one type of adenocarcinoma called HDGC or Hereditary Diffuse Gastric Cancer includes genetic testing for the CDH1 gene mutation.  In families with the CDH1 gene mutation, intense surveillance may be appropriate and in some cases prophylactic gastrectomy.

Aside from upper endoscopy, other helpful diagnostic tests for gastric cancers include a double contrast barium x-ray, ultrasound, or a CT scan; however, a negative barium x-ray study alone may give false assurance and is sometimes a reason for a delay in diagnosis. Research suggests that improvement in five-year survival requires not only improved awareness by patients, but especially improved diagnostic methods and screening programs by their doctors.

Hydrocephalus is also known as “water in the brain.”  It is a condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, which are cavities in the brain.  In infants with hydrocephalus, CSF builds up in the central nervous system, causing the soft spot near the front of the scalp, known as the anterior fontanelle, to bulge and the head to be larger than expected. There is also a soft spot near the back of the head known as the posterior fontanelle. Early symptoms may include sundowning, which is when the eyes appear to gaze downward; irritability; seizures; separated scalp sutures; sleepiness; and vomiting.

In newborns with hydrocephalus, the head circumference rapidly enlarges and may surpass the 97th percentile when measured at pediatric visits.  If the skull bones have not yet firmly joined together at this age, bulging, firm anterior and posterior fontanelles may be present when the patient is in an upright position. The infant may exhibit fretfulness, poor feeding, and frequent vomiting.

As the hydrocephalus progresses, torpor, a state of sluggishness and reduced metabolism, sets in and the infant shows lack of interest in his/her surroundings. In a later stage, the upper eyelids become retracted and the eyes turn downwards (due to hydrocephalic pressure on the mesencephalic tegmentum and paralysis of upward gaze). Movements become weak and the arms may become tremulous.  There may be reduction of vision. Over time, the head becomes so enlarged that the growing child becomes bedridden and he/she is unable to lift or even move this huge object attached to its neck.

Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques. The most common initial diagnostic test to determine hydrocephalus is an image of the brain (CT Scan or MRI) to identify the enlarged ventricles (spaces) within the brain that are typical of hydrocephalus.

Hydrocephalus is often treated with the surgical placement of a shunt system. This system diverts the flow of CSF from a site within the central nervous system (CNS) to another area of the body where it can be absorbed.  A shunt is a flexible but sturdy tube composed of silicone and plastic.   A shunt system consists of a shunt tube, a catheter, and a valve. One end of the catheter is placed into one of the dilated a ventricles inside the brain.  Depending on the situation, it could also be placed into a cyst or somewhere near the spinal cord. The other end of the catheter is usually placed within the abdominal cavity.  It could also be placed into any area, such as the heart, where the extra cerebrospinal fluid can be drained and absorbed.  The valve located along the catheter maintains one-way flow and regulates the rate of CSF flow.

Hydrocephalus can be effectively treated with a shunt; however, there is still a potential for complications. The shunt can become blocked. Symptoms of blockage include headache and vomiting. There may be other problems with the shunt such as kinking, tube separation, or infection in the area of the shunt. Other complications may include infections such as meningitis or encephalitis, intellectual impairment, and nerve damage.  Untreated hydrocephalus has a 50-60% death rate. Survivors have varying degrees of intellectual, physical, and neurological disabilities.

There are approximately 12,000 new cases of spinal cord compression annually in the United States with the average age of victims being 39.5 years old. Causes of spinal cord compression include trauma (such as auto accidents, falls, sports injury, epidural injection), spinal abscess, tumor, hematoma or blood clot, ruptured or herniated disk, and spinal stenosis. . Early symptoms may include the start of loss of movement or feeling in the arms or legs, back pain, and the loss of bowel or bladder function or control. Spinal cord compression of sudden onset constitutes a medical emergency, as the longer the duration of symptoms before cord pressure relief is obtained by surgical intervention (laminectomy), the greater the chance of permanent injury. Diagnosis is by clinical exam and other testing such as X-ray, CT, and MRI. MRI is usually the most accurate study to detect spinal cord compression as details of both bony and soft tissue abnormalities in the spinal column may be visualized. MRI may also be the preferred study if spinal cord injury occurs during pregnancy as MRI offers reduced radiation exposure to the fetus. However, after an accident, traction devices to immobilize the spine and life support equipment may preclude the use of MRI.

The spinal column is comprised in descending order of the cervical, thoracic, lumbar, and sacral areas. The actual spinal cord ends at the level of L-1. Below the level of L-1, the cord branches into a bundle of spinal nerve roots from L-1 through L-5 and S-1 through S-5 that resembles a horses tail referred to as the cauda equina. When the nerve roots of the cauda equina are compressed permanent neurogenic injury may occur. This may be referred to as cauda equina syndrome (CES). Causes of compression of these nerve roots include the same types of causes as listed above for spinal cord compression. Symptoms of early onset of cauda equina syndrome include numbness in the groin (saddle anesthesia), loss of bowel or bladder function or control, weakness in the legs, and absence of ankle reflexes. Early diagnosis and treatment of CES is important as the longer the duration of symptoms, the more likely permanent neurological injury will occur such as paralysis and incontinence. Cauda equina syndrome of sudden onset is a medical emergency and treatment generally involves surgical decompression of the affected nerve roots. A laminectomy may be performed to relieve pressure on the nerve root in cases where there is a herniated or ruptured disk, hematoma, abscess, or tumor.

In spinal cord and nerve root compression cases involving sudden onset of neurological symptoms, medical malpractice may arise when there has been an unreasonable delay in diagnosis and prompt surgical intervention by the doctors or hospital. Allegations of medical malpractice may also include a failure to diagnose and treat a vertebral fracture of the neck or back that required traction or immobilization which was not performed, thereby allowing pathological movement that resulted in spinal cord compression.

Amputation is the surgical removal of all or part of an extremity. The most common amputation surgery is above or below the knee.  The indications for leg amputation include severe trauma, significant tumor in the bone or muscle, lack of blood circulation due to peripheral arterial disease, worsening or uncontrollable infection, failed management of acute compartment syndrome, failed management of Charcot’s degenerative osteoarthropathy, or debilitating extremity paralysis from infection or pressure-related complications. Failute to timely diagnose and treat infection, tumor, pressure sores, vascular disease, compartment syndrome, and Charcot’s all may result in the unneccessary amputation of a leg and give rise to allegations of medical malpractice against negligent health care practitioners.

The amputation procedure varies depending on the extremity undergoing the operation. To determine the operation site and the amount of tissue to remove, the surgeon relies on the following factors: the patient’s pulse, skin temperature, areas of reddened skin, and sensitivity to touch in the affected extremity. The presence of a palpable pulse proximal to the level of amputation is a positive predictor for successful healing; however, the absence of a pulse does not necessarily reflect future wound healing failure. The level of the amputation is based on the extent of the damaged tissue, the healing potential of the area, and the rehabilitation potential of the patient. In addition to a thorough clinical examination, objective tests such as ankle pressures, toe pressures, transcutaneous oxygen measurements, and skin perfusion pressures are useful.

The preoperative evaluation and preparation involves medical risk assessment, nutrition assessment, prosthetic and rehab consultation, and possibly a psychological consultation. The diseased tissue is removed along with any crushed bone and the maximal amount of healthy tissue is left behind. The blood vessels and nerves in the surrounding area are sealed off. Following the amputation, the site can be left open due the possibility of further amputation or covered with skin flaps and closed. The remaining muscles in the area are shaped so the end of the limb can be fitted for prosthesis, also known as an artificial limb.

Thromboprophylaxis is recommended for all patients undergoing major lower extremity amputation because patients are at high risk for thromboembolism, the blocking of a blood vessel by a particle that has separated from a blood clot at the formation site. Antibiotic prophylaxis is typically recommended within one hour of skin incision for lower extremity amputation due to high risk for surgical site infection.

Generally, the patient undergoes physical rehabilitation soon after surgery and practice with the prosthesis can begin 10-14 days after surgery. The patient’s postoperative outcome is dependent upon preoperative functional status, comorbidities, and the level of amputation. Wound healing must be monitored and dressing changes performed. Patients with advanced diabetes, significant heart disease, or serious infection are at a greater risk of complications from the procedure. Possible complications include infection, joint contracture, necrosis, deep vein thrombosis, pulmonary embolism, hematoma, and wound opening. In addition, patients may experience phantom pain, a sense of pain in the amputated limb described as burning aching, or electric. Other causes of pain such as ischemia, infection, neuroma, or pressure related wounds should be excluded before determining the diagnosis as phantom pain.

Appendicitis is a medical emergency that requires immediate surgery to remove the appendix.  If left untreated, an inflamed appendix will eventually rupture.  When this happens intestinal contents (stool and bacteria) spill into the abdominal cavity causing infectious peritonitis, a serious and toxic inflammation of the abdominal cavity’s lining (the peritoneum).  This condition can be fatal unless it is treated quickly with surgery and strong antibiotics.

SYMPTOMS: Usually pain is the first symptom, starting in the mid abdomen around the navel, and except in children below 3 years old, the pain tends to localize in the right lower quadrant within a few hours.  The abdominal wall becomes sensitive to gentle pressure, and the pain can be elicited through various tests the physician will use to bring it out.  One such sign is when the abdomen is gently pushed down and quickly released.  This is known as rebound tenderness and is a clinical sign the peritoneum is inflamed.  If the appendix is located beneath the cecum (first part of the colon), it may fail to elicit tenderness (silent appendix).  And if the appendix lies entirely within the pelvis, the region below the addomen, there could be a complete absence of the abdominal signs and symptoms. In such cases, a digital rectal exam will cause discomfort localized to the region of the appendix in the right lower quadrant.  Also, if the abdomen on palpation is rigid, which is known as involuntary guarding, there should be a strong suspicion of peritonitis requiring urgent surgical intervention.  The physician can perform certain other maneuvers, such as bending and rotating the right hip, and extending the hip in the prone position, which will bring about pain consistent with inflammation caused by appendicitis.  The next symptoms usually experienced are naussea and vomiting, as well as constipation.  Eventually as the inflammation progresses, fever will occur.

BLOOD TESTS: When appendicitis is suspected, blood tests such as a CBC need to be done to try to confirm the diagnosis.  More than 80% of adults with appendicitis have a white blood cell count greater than 10,500 cells/mm³.  Another blood test commonly used is the determination of C-reactive protein (CRP),an acute-phase reactant synthesized by the liver in response to infection or inflammation.

DIAGNOSTIC IMAGING: The plain film of the abdomen, known as a KUB is typically taken. Visualization of an appendicolith (a white colored defect in the right lower quadrant) in a patient with symptoms consistent with appendicitis is highly suggestive of appendicitis, but this occurs in fewer than 10% of cases. Another X-ray that may be utilized is the single-contrast Barium enema, which can be performed on an unprepared bowel. Absent or incomplete filling of the appendix with contrast barium coupled with pressure effect or spasm in the cecum suggests appendicitis. Though cheap in cost, once thick barium contrast is instilled, other more definitive tests will not be able to be performed.

The appendix may be evaluated via transabdominal sonography. Many physicians believe that ultrasonography should be the initial imaging test in pregnant women and in children due to its safety. Abdominal CT scanning has become the most important imaging study in the evaluation of patients with appendicitis.  Advantages of CT scanning include its superior accuracy when compared with other imaging techniques, as well as its ready availability, noninvasiveness, and potential to reveal alternative diagnoses. MRI plays a relatively limited role in the evaluation of appendicitis due to high cost, long scan times, and limited availability.  The lack of dangerous radiation exposure makes it an attractive modality in pregnant patients where ultrasound is not helpful in making a diagnosis.

In today’s day and age, the diagnosis of appendicitis should generally not be missed by an emergency room physician.  If in doubt a surgeon should be called to evaluate and remove the appendix, which can be done laparoscopically, so long as it remains locally inflamed or walled off, and before there is free perforation into the abdominal cavity.  A delay in diagnosis can result in lifelong complications affecting bowel function due to the scarring of the peritoneal lining.

Breast cancer affects millions of women in America and some studies indicate up to one out of eight women will be diagnosed with breast cancer over the course of her lifetime. The survival rate of breast cancer that is detected and treated early is much better than when a malignant tumor is found after it hasalready spread to lymph nodes or surrounding tissue.  Therefore, it is important that every effort be made to diagnose and treat breast lesions as quickly as possible.

One of the mainstays in breast cancer detection is mammography. A mammogram involves an X-ray taken of the breasts, usually taken from several angles. Some abnormalities on mammograms such as masses or calcifications can alert the healthcare provider and patient that additional diagnostic testing needs to be done. The mammogram is one of the main methods of screening for breast cancer. Other imaging methods are less commonly used for screening, such as sonography (ultrasound), and MRI. However, these diagnostic methods can be used to add to information already obtained from a mammogram study when a patient is evaluated and uncertainty or an abnormality exists.

Patients need to be informed about the need for breast cancer screening. The mammogram, ultrasound, or MRI tests need to be read and interpreted correctly in order to diagnose problems and treat them early. In the case of breast cancer, early detection and diagnosis is key to improved cure rates.  Special circumstances and risk factors (such as family history) may point to additional diagnostic testing to help identify breast cancer in those women at high risk. If tests are not interpreted correctly, or the results are not acted on in a timely or proper fashion by the healthcare provider, medical malpractice may be the result.

Sometimes patients or healthcare providers feel a breast mass or lump on examination. This often requires further evaluation usually beyond just a “regular” screening mammogram. As noted above, additional mammogram views, ultrasound, and/or MRI can help characterize the type of mass. However, breast masses usually warrant a visit to a surgeon or breast specialist to evaluate the patient for biopsy. Breast biopsies can be much less invasive to patients than in years past. During a “stereotactic” breast biopsy, the doctor employs mammography to locate the specific abnormal area and then a special instrument is used to remove cells from that precise area. Ultrasound can also be used to identify an abnormal area that is then biopsied. These methods are particularly useful when a breast mass cannot be felt. Sometimes when a mass can be felt, or palpated, the biopsy can be done without using X-ray or ultrasound localization.

Breast cancer screening can help identify women with breast cancer, as well as pre-cancerous lesions and benign breast conditions. Medical malpractice may occur as a consequence of failure to adequately evaluate, identify, screen, or diagnose breast cancer. Allegations of medical malpractice may include a failure by the internist to refer the patient to a breast specialist or surgeon for evaluation, failure by the radiologist to properly read a mammogram, ultrasound, or MRI, and/or failure by the pathologist to detect cancer in a breast biopsy that is indeed malignant. With improved methods of screening, diagnosis, and treatment of breast cancer, survival rates should continue to improve.

Hernia is when an organ or tissue protrudes through a weak area in the surrounding muscle or connective tissue. There are different types of hernias that generally vary by location. Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that permits the abdominal viscera to herniate into the chest. The amount of herniated contents may be small or large and it generally contains parts of the intestine, spleen, or liver. CDH occurs during a critical period of lung development when bronchial and pulmonary artery branching occurs so lung compression by herniated bowel can lead to pulmonary hypoplasia, which is underdevelopment of the lungs. CDH occurs in 1 out of 2200 births and in 50% of CDH cases, there are other associated anomalies such as chromosomal abnormalities, congenital heart disease, and neural tube defects.

Within the first few hours of life, infants with CDH may present with mild or severe respiratory distress that may be incompatible with life. Symptoms include bluish skin due to lack of oxygen, rapid breathing, and fast heart rate. On physical exam, patients may have a barrel-shaped chest, scaphoid appearing abdomen due to loss of abdominal contents into the chest, and absence of breath sounds on the affected side. In the majority of patients with CDH, herniation occurs on the left; therefore, the heartbeat is displaced to the right due to a shift in the mediastinum. Right sided diaphragmatic hernias occur in 11% of cases and bilateral herniation only in 2%.

The level of respiratory distress depends on the severity of lung hypoplasia. In the prenatal period, lung hypoplasia can be determined using ultrasound to evaluate herniated contents and to measure the lung area to head circumference ratio. Postpartum, there is no specific test to quantify the amount of hypoplasia. The diagnosis of CDH is generally made prenatally by ultrasound; however, in those where CDH is not diagnosed in utero, it should be suspected in any full term infant presenting with respiratory distress and the diagnosis is made by chest x-ray showing herniation of abdominal contents into the hemithorax.

For neonates diagnosed by prenatal ultrasound, the following steps for monitoring and intervention are recommended: twice weekly nonstress testing or biophysical profile testing at 33-34 weeks in addition to ultrasound examinations at 28, 30, 32, and 34-35 weeks to assess fetal growth and amniotic fluid volume. If the fetus experiences growth restriction or oligohydramnios, which is a deficiency of amniotic fluid, the baby should deliver early and betamethasone (a steroid medication that assists in preterm fetal lung development) should be given prior to delivery if the fetus is less than 34 weeks.  The best mode and gestational age for delivery of a fetus with CDH is undetermined; however, the suggested time for planned induction of labor is between 38-39 weeks.

In the delivery room, infants with problematic CDH should be immediately intubated and ventilated with low peak pressure to minimize lung injury. A nasogastric tube on continuous suction is placed in the stomach for decompression of the abdominal contents, which can help expand available lung tissue. In addition, the infant should have an umbilicial artery line for monitoring of blood gases and blood pressure and possibly an umbilical vein catheter for administration of fluids and medications. Blood pressure support should be given and an echo should be done to determine cardiac abnormalities in addition to the extent of pulmonary hypertension and shunting.

Extracorporeal membrane oxygenation (ECMO) has been used as part of  the treatment in some hospitals. ECMO operates as a heart-lung bypass system; thus, it does the job the heart and lungs would be doing. ECMO can be used temporarily while the infant’s condition stabilizes and improves.  Once the infant is stable, he or she can undergo surgical repair of the diaphragmatic hernia, where the stomach, intestines, and other abdominal organs are returned to the abdominal cavity. The hole in the diaphragm is also repaired. If the diaphragm is absent, an artificial diaphragm will be constructed and placed. Following the operation, the infant will require breathing support due to underdevelopment of the lungs. Once the infant is taken off ventilation (breathing machine), he or she may need oxygen and medications to assist with breathing for weeks to years. Thus, CDH requires long term follow up to monitor the infant’s condition to ensure no future complications such as lung infections or other associated congenital problems. The prognosis is generally good for infants with CDH and survival is greater than 80%.

Cerebrospinal fluid (CSF) is a clear fluid that surrounds the brain and spinal cord. This fluid is continually produced and stored in ventricles, which are cavities of the brain. CSF cushions the brain, supplies the brain with nutrients, and removes wastes.  Excess fluid drained from the brain is absorbed by other tissues.

Hydrocephalus is a condition in which there is an abundance of CSF in the ventricles due to interference in proper drainage and absorption. To accommodate the extra fluid, the ventricles enlarge causing compression of  different parts of the brain.

Normal pressure hydrocephalus (NPH) is a type of hydrocephalus that occurs commonly in older adults. NPH is different from other types of hydrocephalus because it develops gradually. The slow enlargement of the ventricles causes the fluid pressure in the brain to not be as high as in other types of hydrocephalus. However, the enlarged ventricles still press on normal brain tissue.

NPH often presents with the following clinical triad of findings: urinary incontinence, gait disturbance, and dementia, with urinary symptoms appearing later in the sequence.  Gait disturbance is often the initial and most prominent symptom of the triad. It may be progressive due to the expansion of the ventricular system. It generally presents as unsteadiness or impaired balance. Eventually, gait disturbances can lead to a need for canes or walkers. An increased tendency to fall backwards is also common. In the very late stages, the patient can progress to an inability to stand, sit, and rise from a chair.

Dementia presents as apathy, forgetfulness, and a dullness of thinking. Memory problems are often predominant, which can contribute to a misdiagnosis of Alzheimer’s disease. Although recall is severely impaired in NPH, recognition, a hallmark of Alzheimer’s, is either normal or slightly impaired.

Idiopathic NPH is normal pressure hydrocephalus occurring without a known cause; however, it can be attributed to any condition that blocks the flow of CSF such as bleeding from an abnormal blood vessel, an aneurysm, a closed head injury, meningitis or similar infections, and surgery on the skull.

The diagnosis of NPH is made by performing a lumbar puncture (spinal tap). If the initial pressure measurement is elevated, it points to a diagnosis of NPH. Clinical improvement after removal of CSF has a high predictive value for treatment success.  A CT scan of the brain will show enlarged ventricles, and an MRI may show certain technical findings consistent with enlarged ventricles and elevated cerebral pressures. Imaging alone cannot differentiate between NPH and other dementia causing conditions such as Alzheimer’s disease, Atherosclerotic vascular disease, and Parkinson’s disease.

Treatment for NPH is surgical diversion of the excess CSF. A shunt is implanted to drain CSF from the intracranial ventricular system to a different location such as the peritoneal space in the abdomen. The most common shunts utilized today are called the ventriculoperitoneal (VP) and ventriculoatrial (VA) shunts.  Placement of a shunt is a neurosurgical procedure performed under general anesthesia, and usually takes less than an hour to complete. Cognitive impairment associated with dementia has been reported to improve in more than fifty percent of cases. Successful treatment for NPH is available; therefore, it is medicaly negligent to misdiagnose NPH as Alzheimer’s dementia, where responses to the latest therapy innovations are only temporary.

An infant’s skull is comprised of boney plates separated by sutures.  Cranial sutures are strong, fibrous tissues that hold the bones together and they intersect in large soft spots known as fontanelles. The infant’s skull does not completely fuse until the age of two thereby granting the brain time to grow. Once the bones fuse, the sutures no longer remain flexible.

Craniosynostosis is due to premature fusion of one or more cranial sutures.  It affects 1 in every 2000 to 2500 births worldwide. Premature closure of sutures restricts the growth of the skull perpendicular to the affected suture. To accommodate, the growing brain, the skull grows parallel to the affected suture resulting in a skull deformity. Craniosynostosis can involve one or multiple sutures; however, the sagittal suture is the most common. There is an increased incidence of craniosynostosis in multiple pregnancies and in presence of uterine abnormalities; however, craniosynostosis involving multiple sutures is often a product of a genetic syndrome such as Apert’s and Crouzon syndrome.

The different types of craniosynostosis are sagittal synostosis, frontal plagiocephaly, and metopic synostosis. Symptoms depend on the type of craniosynostosis but they may include no “soft spot” on the newborn skull, a raised hard ridge along the affected sutures, unusual head shape, and slow or no increase in head size over time as the infant grows. The diagnosis of craniosynostosis is based upon physical exam and radiographic studies such as X-ray and CT which can further illustrate structural abnormalities. Complications associated with craniosynostosis include increased intracranial pressure; inhibition of brain growth; impairment in cognition and neurodevelopment such as global development delay and poor feeding; and poor self-esteem and social isolation due to aesthetic abnormalities.

Management for this condition begins with a primary care provider recognizing an abnormal head shape and referring to a craniofacial team for evaluation, preferably within the first few weeks of life.  The craniofacial team develops a treatment plan, coordinates future care, and monitors the patient’s progress. Intervention involves surgical repair of craniosynostosis to prevent intracranial hypertension.  Signs of intracranial hypertension include papilledema, a beaten copper appearance on skull radiograph, or increased measured ICP requiring urgent decompression.

The timing of surgery depends upon the severity of the condition and the child’s health.  Sometimes, surgery is performed at 8-12 months of age because intracranial volume is sufficiently large and the child may better endure the stress of surgery. Also, the calvarium is thicker allowing more stable fixation. The different classifications of craniosynostosis require different surgical plans. Prognosis depends on how many sutures are involved and the child’s overall health.  Individuals with this condition who undergo surgery generally improve and do well, especially when it is not associated with a genetic syndrome.

Wilson’s disease is a rare autosomal recessive disorder, where copper accumulates in the body’s tissues and organs, specifically the liver, brain, and eyes. The body acquires and stores too much copper. Copper deposition causes damage, death, and scarring of tissues leading to dysfunction of organs.

The incidence of Wilson’s disease is 1:300,000. If both parents possess an abnormal gene for Wilson’s disease, there is a 25% chance their child will have the disorder. The gene responsible for Wilson’s disease is ATP7B. DNA testing is available for this gene; however, testing is complicated because different ethnic groups may have different mutations in this gene.

It is commonly seen in eastern Europeans, Sicilians, and southern Italians. Symptoms begin to present at age 4. Symptoms include abnormal posture of arms and legs, confusion or delirium, dementia, difficulty moving arms/legs, difficulty walking, emotional or behavioral changes, abdominal distention, personality changes, speech impairment, tremors of arms or hands, uncontrollable movements, hemoptysis, jaundice, etc.

Specific signs and tests are used to verify the diagnosis of Wilson’s disease. A slit lamp examination may demonstrate limited eye movement and Kayser-Fleischer rings, brown-colored rings around the iris. Physical examination may illustrate injury to the central nervous system such as loss of muscle control, coordination, memory, thinking and IQ. Other neurological signs may include muscle tremors and confusion.

In addition, the presence of liver or spleen disorders may be an indication for Wilson’s disease. Lab tests that assist in the evaluation for Wilson’s disease include: CBC, serum ceruloplasmin, serum copper, serum uric acid, and urine copper. If the patient possesses liver problems, one would expect to see the following picture: high liver enzymes (AST and ALT), high bilirubin, high PT and PTT, and low albumin. There are a myriad of other tests such as 24-hour urine copper test as well as abdominal and neurological imaging that can provide further evidence for or against the diagnosis.

Lifelong treatment is required to control Wilson’s disease because it may cause fatal effects, such as loss of liver function and damage to the nervous system. In patients where the disorder is not fatal, symptoms may be disabling. The aim of treatment is to decrease the amount of copper in the body causing toxic effects.  Thus, medications known as chelators, which bind copper and remove it via the kidneys and guts, are utilized to treat this disorder. Unfortunately, certain medications that chelate copper, like penicillamine, can sometimes affect neurological function while others may not interfere with neurological function.

Also, a low-copper diet is recommended so individuals should avoid the following foods: chocolate, dried fruit, liver, mushrooms, nuts, and shellfish.  Individuals may want to drink distilled water because the majority of tap water flows through copper pipes. A liver transplant may be necessary in cases where the liver is severely damaged. In addition, people with severe neurological dysfunction may need special protective measures.

If left untreated, a variety of complications can result from Wilson’s disease including anemia, CNS damage, cirrhosis, liver necrosis, fatty liver, hepatitis, increased number of bone fractures and infections, jaundice, muscle atrophy, loss of ability to care for self and function independently, along with a number of other things. However, liver failure and injury to the central nervous system are the most common and dangerous effects. Wilson’s disease is fatal if it goes undiagnosed and untreated.