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A 14 1/2-year-old boy admitted for muscle weakness was examined again when at age 19 complaining of accelerated muscle weakness. The diagnosis of Emery-Dreifuss muscular dystrophy was based partially on a biopsy of the right quadriceps muscle. This disorder has symptoms of progressive muscle weakness, muscle contractures and progressive atrial conduction problems. The patient must be monitored for indications of pacemaker implantation. Corticosteroids help in the short term because of the inflammatory component of muscular dystrophy. The negative side effects of long-term use as well as disease evaluation problems indicate these drugs should not be considered for long-term use. The patient's mother was an obligate carrier of the disease. There have been two other cases reported with X-linked disease and typical clinical picture.

A case is described of a 75-year-old man, who was admitted to the hospital with impaired mental status, myoclonic jerks (quick muscle jerks caused by impaired neurologic function), and a tonic-clonic seizure (prolonged convulsion). The patient had a history of diabetes, hypertension (high blood pressure), and peripheral (in the extremities) nerve disease. A slow-growing tumor was detected in the membrane covering the brain. The patient was agitated, bewildered, and unable to give a coherent history or move his eyes to the right. Infection of the urinary tract was noted and treated with the antibiotic cefazolin. The patient's mental status shifted from sleepiness to alertness, and he was able to answer some questions. During his hospitalization, he experienced myoclonic jerks and a tonic-clonic seizure. Assessment of neurologic function indicated that he had severe dementia, or impaired intellectual function. The patient became progressively drowsy, reacted slowly, and answered questions only briefly. The diagnosis of his condition based on clinical findings was gliomatosis cerebri, a condition characterized by widespread formation of neuroglial tumors in the brain. Neuroglial tissue consists of the supporting cells and fibers within the brain. Gliomatosis cerebri may be associated with transient loss of consciousness, dizzy spells, mental deterioration, headache, and seizures. Based on anatomical or physical findings, the patient was diagnosed with cerebral amyloid angiopathy, a disease of elderly persons. Cerebral amyloid angiopathy may be characterized by bleeding within the brain due to weakness of the blood vessels walls, which results from the deposition of amyloid, a starch-like substance. The initial signs and symptoms may be acute dementia and seizures. The disease often develops after a head injury, but may be related to hypertension-induced blood vessel damage. In this case, cerebral amyloid angiopathy was associated with dementia, absence of bleeding, and disease within the white matter of the brain. (Consumer Summary produced by Reliance Medical Information, Inc.)

The case is reported of a 47-year-old man who awoke one morning with severe pain on the left side of the neck, which moved to the left side of the chest by mid-afternoon. Upon deep breathing, the pain grew worse and breathing became difficult. A fever developed, and abnormal lung sounds were heard when the patient first consulted the hospital. The patient was black and had immigrated to the US seven years earlier from the Cape Verde Islands. Abnormal heart sounds were detected, and the patient's urine tested positive for protein. The patient's course in the hospital is described; on the fourth day, after a stable course, signs of cardiac compression (increased pressure on the heart) developed. These were treated. The clinical diagnosis was acute infectious pericarditis (inflammation of the pericardium, the sac that surrounds the heart). Another possible diagnosis was acute tuberculous pericarditis. A discussion is presented of pericarditis and its possible causes. Surgery was performed to remove infected fluid and diseased pericardium, and the patient recovered. The final diagnosis was purulent pericarditis as a result of infection with Streptococcus pneumoniae. Similar symptoms in an immigrant patient should always raise the possibility of tuberculosis, however. (Consumer Summary produced by Reliance Medical Information, Inc.)

The case history is presented of a boy aged three and one-half years old, who developed a throat inflammation (pharyngitis), fever, rash in the diaper area and swollen glands in the throat prior to hospitalization. At the age of two, he had been admitted to the hospital for treatment of pneumonia. Over the course of the first few days in the current illness, the mass in the patient's neck grew and the fever increased. The rash persisted and swelling of the soft tissues in the neck was noted. The patient developed signs of joint pain and became quite irritable, actively resisting examination by the fifth hospital day. The clinical diagnosis was Kawasaki disease (mucocutaneous lymph node syndrome), a condition associated with rash, fever, enlarged lymph nodes, and blood vessel inflammation. In this case, the coronary arteries (which supply blood to the heart) contained aneurysms, or irregular dilatations. The patient was treated with gamma globulin (which participates in the immune response), and recovered. One year later, he appeared well. (Consumer Summary produced by Reliance Medical Information, Inc.)

A 28-year-old Guatemalan patient was admitted to the hospital with complaints of severe abdominal pain and vomiting. During the previous 18 months she had suffered four or five intense episodes of abdominal pain that were localized to the lower left quarter of her abdomen. The attacks began several hours after eating and lasted for an extended period of days. She was given medication to relieve her symptoms and was diagnosed with colitis, inflammation of the colon. The patient had arrived in the United States approximately 2 months before her hospitalization. Her medical history was not remarkable. On examination she appeared well, liver and spleen were normal and her abdomen was soft and without any localized tenderness. Examination of her extremities, pelvis and rectum yielded similarly normal findings. Although most biochemical values were within normal range, her white-blood cell count was elevated and indicative of infection. X-ray examinations, including CAT scans, were unremarkable with the exception of areas of abnormal calcification within the abdomen near her right kidney. On the sixth day of her hospitalization, the patient experienced a cramping pain in the right upper quarter of the abdomen, and developed diarrhea, nausea and vomiting. Her temperature was elevated, and she continued to have pain in the upper right abdomen. Early on the seventh day she had severe abdominal pain, but its location had shifted to the right side, near to her navel. The shifting nature of her pain, the presence of calcium within her abdomen, and other unusual symptoms prevented the hospital staff from rapidly making the correct diagnosis, appendicitis. It is unclear whether this case represented an unusual illness, perhaps from a relative unknown South American parasite, or an unusual manifestation of a very common surgical problem. Appendicitis is usually thought of as an acute disease, but the present case typifies a chronic or recurrent appendicitis which has been recently accepted as a diagnostic category. (Consumer Summary produced by Reliance Medical Information, Inc.)

A 74-year-old man was admitted to a hospital with pain in his hip associated with a failed hip replacement. On X-ray, the surgical appliance was seen to be associated with a destructive lesion of the hip bone. The possibility of various malignant tumors was considered and ruled out. A needle biopsy was done, and no tumor was found. The patient underwent a revision of the original hip surgery, at which time particulate debris, presumably from surgical glue (used to attach the hip prosthesis) was found surrounded by diseased tissue. Tissue samples were taken for routine microscopic examination. The loss of bone from the hip was found to be a foreign-body reaction associated with the cement which was used. Although there was concern that the replacement operation (which uses a related cement) might fail in a similar manner, there was no substitute for the gluing procedure. However, during the 10 years since the original operation there have been considerable advances in the surgical method. This has resulted in a decrease in the loosening of glued parts from a range of 30 to 40 percent to the current rate of 3 percent. This has been achieved by improving the design of the implants and preparing the cement in a better way. The patient has been seen approximately six months after the operation and is well with good hip function. (Consumer Summary produced by Reliance Medical Information, Inc.)

A case is described of a newborn boy admitted to the hospital with a mass in the left side of the chest and respiratory distress. The boy had been born the previous day in a different hospital. During pregnancy, the mother had high blood pressure, but the history of medications she used was not complete. She denied using drugs or alcohol or smoking during pregnancy. The baby was delivered vaginally at 37 weeks gestation. When he was brought to the hospital on the day after birth, he was placed in the special-care nursery and given oxygen for respiratory distress. Chest X-rays showed an opacity of the left lung and a shift of the mediastinum, the structure of tissues separating the lungs. Other examinations included listening to breath sounds and analysis of blood gases, as well as evaluation of heart function. Over the first several days in the hospital, his respiratory distress improved, but lung function did not become normal. One possible diagnosis was congenital lobar emphysema involving retention of fluid in the affected lung. Surgery was performed and a part of the left lung was removed. In response to this procedure, the rest of the left lung expanded, and the baby had a good recovery. Examination of the lung tissue removed showed an abnormal structure of the airways in part of the lung, which was diagnosed as polyalveolar lobe of lung. This condition is sometimes described as a type of congenital lobar emphysema, but whether it is truly emphysema is controversial. Seven months later, the infant was well, with normal lung function. (Consumer Summary produced by Reliance Medical Information, Inc.)

A case is described of a 21-year-old man suffering from repeated bouts of pneumonia affecting the left lung only. The first episode of pneumonia took place three years before the current episode, which was his fifth recurrence. The young man's symptoms included shortness of breath, a productive cough, fever and wheezing. He had never required hospitalization in the past, but in the latest episode this became necessary as his symptoms were worse and included dizziness, vomiting and a severe headache. The evaluation involved chest X-rays, blood and urine tests and an extensive medical history. The patient had no history of exposure to tuberculosis or sexually transmitted diseases, including AIDS, the acquired immunodeficiency syndrome. He worked as a cook on a cruise boat that traveled only along the coast of New England, and lived with his parents. The patient smoked one pack of cigarettes a day and had been a heavy drinker in the past. Some of the possible causes of his recurrent pneumonia that were considered were congenital abnormalities of the respiratory tract, cystic fibrosis, infectious diseases, and aspiration of a foreign body. While tumors of the lung are rare in young patients, this possibility was also evaluated. Examination by CT (computed tomography) scan showed a tumor, and a biopsy was taken. The final diagnosis was a cancerous tumor of the bronchus, which was removed surgically. One year later, the patient was in good health. (Consumer Summary produced by Reliance Medical Information, Inc.)

A 16-year-old boy from Bombay, India had suffered repeated seizures and was admitted to the hospital. A computed tomographic (CT) scan showed swelling and a mass in the left frontal region of the brain. The three most common conditions which could cause lesions in the brain of a child from India are tumor, tuberculoma (a tumor-like mass in the brain caused by Mycobacterium tuberculosis, which causes tuberculosis), and cysticercosis (caused by tape worms). The clinical features did not indicate diagnosis of a cerebral glioma, a type of tumor which occurs in children and causes seizures. It was thought that the mass was a tuberculoma as tuberculosis is endemic in Bombay and the clinical features were compatible with the diagnosis of tuberculoma without manifestations outside the brain. The patient had been vaccinated against tuberculosis in childhood, but vaccination is not an assurance that the disease will not develop later in life. However, the patient was given drugs for the treatment of tuberculosis and still had the seizures. Cysticercosis was still a possible diagnosis. Abscesses caused by infectious agents such as bacteria, fungi and protozoa, or parasites were also considered. A brain biopsy was performed and examination of the tissue revealed that the patient had cysticercosis, which was manifested as a granulomatous abscess in the brain. (Consumer Summary produced by Reliance Medical Information, Inc.)

A 12-year-old boy entered the hospital with symptoms of fatigue and fever that had persisted for a month. The boy had travelled to a number of countries during the past several years, including Brittany, Tunisia, Greece, and Yellowstone Park. The patient also drank the tap water and swam in fresh-water pools in some of those countries. Weight loss and a change in the appearance of his fingernails had been noted prior to hospitalization. He had edema (swelling) of the ankles and experienced an episode of dyspnea (difficulty in breathing) on the third day of hospitalization. The patient's white blood cell count was elevated, which, combined with the fever, suggested an infection. Eggs of Trichuris trichura, a parasite, were found in the patient's stool, and a large mass was present in the liver. The clinical diagnosis was hepatic tumor, with possible amebic abscess of the liver or liver cyst. The tumor was solid and was believed to be completely removed surgically. A diagnosis of undifferentiated (embryonal) sarcoma (cancer) of the liver was made. The patient received chemotherapy under a treatment program that has led to long-term survival (more than five years) in several other patients with a similar diagnosis. (Consumer Summary produced by Reliance Medical Information, Inc.)

A case is described of a 58-year-old man who suddenly developed hematochezia, the passage of stools containing bright red blood. His medical history included insulin-dependent diabetes for the past 20 years, and hypertension for 10 years, which had not been treated. He also had a duodenal ulcer three years before the current incident, and a recent evaluation for chest pain. After he passed the bloody stools, he went to the emergency room and was evaluated. It was found that his duodenum was only mildly inflamed, and the bleeding had originated from the cecum, a pouch-like structure that constitutes the first portion of the large intestine and includes the appendix. The physicians considered various possible causes for the lesion in the cecum, including cancer, infections, and inflammatory conditions. While a lymphoma was at first suspected, further examination of the lesion suggested that it was instead caused by an inflammatory process. The final diagnosis was a periappendiceal (around the appendix) abscess with actinomycosis, a bacterial disease that causes noncontagious infections in the abdomen and other regions of the body. The patient was successfully treated with the medications metronidazole (Flagyl) and iodoquinol, which are used for intestinal infections. (Consumer Summary produced by Reliance Medical Information, Inc.)

A 16-year-old boy was admitted to the hospital with a painful swelling in his left leg, which had been preceded three days earlier by cramping in the hamstrings and an inability to extend the knee. He had also had a low-grade fever, sore throat, headache, and cough. Tachycardia (rapid heart beat) was also present. Fluid was drawn from his knee. The patient had a history of swelling in the area behind the knee, and two incidents of sacroiliac pain. A paternal grandfather had ankylosing spondylitis. The clinical diagnosis was ankylosing spondylitis (an autoimmune disease) of juvenile onset, with arthritis in some peripheral joints. He also had a Baker's cyst (a cyst in the knee joint), which produced a condition that appeared similar to thrombophlebitis (inflammation and, often, blood clot of a vein). (Consumer Summary produced by Reliance Medical Information, Inc.)

A case is described of a 78-year-old woman who had suffered from chronic diarrhea for eight years. Eating even a tiny amount of food would cause abdominal cramps, distention, and diarrhea. For this reason she had lost 40 pounds over the course of her illness and had recently developed confusion, chills and night sweats, and a dry cough. Shortly before she was admitted to the Massachusetts General Hospital, she flew to the United States from the Dominican Republic where she was a citizen. A thorough examination led physicians to rule out the possibilities of parasites, cancer and Crohn's disease. It was eventually determined that she had tropical sprue, an illness that is characterized by intestinal malabsorption and is found in central and northern South America, Asia, Africa and other specific locations. Scientists have not been able to identify the cause of tropical sprue, but it is thought that patients have been exposed to one or more infectious or environmental agents. This etiology would be consistent with the observation that severe epidemics of the disease have occurred in certain regions of the world. The course of the illness has also not been defined; some patients appear to recover spontaneously in a period of months, while others remain chronically ill if not treated. Tropical sprue may be treated with antibiotics such as tetracycline and the nutrient folic acid. This regimen was successful in the woman whose case is described; six months after treatment she continued to feel well, with normal bowel movements and a healthy appetite. (Consumer Summary produced by Reliance Medical Information, Inc.)