Anatobee Patient Cases

Trisomy 21 (Down Syndrome)

Trisomy 21 (Down Syndrome)

• flattened face, nose bridge

• almond shaped eyes slanting up

• short neck

• small ears

• tongue sticks out

• palmar crease (single line across palm of hand)

• white spots on iris

Trisomy 18

• decreased muscle tone (hypotonia)

• low-set ears

• internal organs forming or functioning differently

• severe cognitive/ intellectual development

• overlapping fingers and/or clubfeet

Cleft lip with and without cleft palate

openings or splits in upper lip and/or roof of mouth (palate)

Atrial Septal Defect

birth defect in which a hole is present in the wall (septum) that divide the upper chambers of the heart (atria)

symptoms:

• frequent heart and lung infections

• difficulty breathing

• tiring when feeding (in infants)

• shortness of breath when active or exercising

• skipped heartbeats

Ventral Septal Defect

birth defect in which a hole is present in the wall (septum) that divide the lower chambers of the heart (ventricles)

symptoms:

• shortness of breath

• fast and hard breathing

• paleness

• fast heartrate

• failure to gain weight

• frequent respiratory infections

• sweating while feeding (in infants)

Anophthalmia

birth defect where baby is born without one or both eyes

Microphthalmia

birth defect where one or both eyes are not fully developed and appear small

Truncus Arteriosus

• rare congenital heart defect where a single blood vessel comes out of the heart, instead of usual two (main pulmonary artery and aorta)

• symptoms include blue/purple tint to lips, skin, nails (cyanosis); poor eating and poor weight gain; rapid breathing or shortness of breath; profuse sweating, especially with feeding; more sleepiness than normal; unresponsive/ baby seems “out of it”

Patent ductus arteriosus/common truncus

In hearts with a common arterial trunk (truncus arteriosus), there is almost always an inverse development of the aortic arch and the ductus arteriosus. Truncus with a normal aortic arch and a patent ductus is a rare echocardiographic and surgical finding.

Tracheoesophageal fistula

an abnormal connection in at least one place between the esophagus (connects throat to stomach) and trachea (connects throat to windpipe and lungs). normally these two tubes are not connected

Esophageal atresia

A congenital disorder in which the esophagus does not properly form during pregnancy. Symptoms include coughing, choking, and turning blue when feeding (from lack of oxygen).

Anencephaly

• Birth defect where the baby is born without parts of head or skull fully formed.

• type of neural tube defect (NTD)

• as the neural tube forms and closes, it helps form the baby’s brain and skull (the upper part of the neural tube), spinal cord, and backbones (lower part of neural tube)

• symptoms are underdeveloped skull and unconciousness

• life expectancy of few hours to few days after birth

• no cure

Omphalocele

Birth defect of abdominal wall where internal abdominal organs, like intestines and liver, stick out side of belly through belly button. “Sac” is protected by a thin translucent membrane.

Umbilical hernia

same as omphalocele but sac is completely covered by skin

Birth defect of abdominal wall where internal abdominal organs, like intestines and liver, stick out side of belly through belly button

Encephalocele

Congenital neural tube defect where the sac containing the brain/ meninges/ cerebral fluid forms outside the skull due to bone defects. Can occasionally be caused by trauma or tumors.

Rectal and large intestinal atresia/stenosis

Describes broad group of rare congenital conditions of lower intestinal tract (bowel). Atresia refers to a complete blockage while stenosis refers to a partial blockage.

Spina bifida without anencephaly

Split spine; birth defect in which the spine does not properly form

Symptoms include incontinence (bladder and bowel problems), [birthmark, hair, or protruding spinal cord tissue on skin above defect], sexual dysfunction, weakness, paralysis, or loss of sensation below defect, orthopedic dysfunctions like club feet

Reduction deformity of upper and lower limbs

When part of limb fails to fully form during pregnancy. Caused by exposure of the mother to certain chemicals or viruses while she is pregnant or exposure of the mother to certain medications. (Possibly exposure of the mother to tobacco smoking (although more research is needed))

Diaphragmatic hernia

Birth defect where there is a hole in the diaphragm. Organs in the abdomen (such as intestines, stomach, and liver) can move through the hole in the diaphragm and upwards into a baby's chest.

Arthritis

General inflammation or swelling of joints. Symptoms include joint pain, stiffness, lower range of motion, possible discoloration. Treatments include medication and physical therapy.

Osteoporosis

A bone disease developing when bone mineral density and bone mass decreases or when the structure and strength of bone changes. The decrease in bone strength makes them more fragile and prone to breaking. Symptoms include back pain and poor posture.

Herniated vertebral disc/radiculopathy

The disks that lie between the vertebrae in the spine consist of a soft center (nucleus) surrounded by a tougher exterior (annulus). A herniated disk occurs when a portion of the nucleus pushes through a crack in the annulus. Symptoms may occur if the herniation compresses a nerve and include pain, numbness, tingling, or weakness in the arms, legs, or back. (radiculopathy refers to symptoms produced by the pinching of a nerve in the spinal column.)

Muscular Dystrophy (MD)

A group of genetic diseases that cause progressive weakness and degeneration of skeletal muscles. Most forms begin in childhood and most people who have the condition eventually need a wheelchair or Other symptoms include trouble breathing or swallowing. Medications, therapy, breathing aids, or surgery may help maintain function, but life span is often shortened.

Multiple sclerosis (MS)

Chronic autoimmune disease affecting the central nervous system. The nervous system eats away at itself, causing nerve damage. Symptoms include fatigue, vision problems, numbness, tingling, muscle spasms, weakness, stiffness, pain (in back or eyes with head or eye movement), mobility issues, impaired coordination

Alzheimer’s disease

• Most common type of dementia

• Brain cell connections and the cells themselves degenerate and die, eventually destroying memory and other important mental functions.

• Progressive, starts with mild memory loss leading to loss of the ability to follow a conversation or interact with environment

• Memory loss and confusion are the main symptoms.
  

  • forget about recent conversations or events

  • misplace items

  • forget the names of places and objects

  • have trouble thinking of the right word

  • ask questions repetitively.

  • show poor judgement or find it harder to make decisions

  • become less flexible and more hesitant to try new things

Heart Disease

• Includes coronary artery disease, arrythmia, cardiac arrest, hypertension, cardiac arrest, congestive heart failure

• Symptoms include some mix of chest pain, shortness of breath, coughing or wheezing, swelling in extremities, fatigue, irregular or fast heartbeat

Anemia

A problem of not having enough healthy red blood cells or hemoglobin to carry oxygen to the body's tissues. Symptoms include fatigue, weakness, shortness of breath, brittle nails, blue color to white part of eyes, sometimes desire to eat ice or non-food items, pale skin color, vertigo, shortness of breath, sore or inflamed tongue, mouth ulcers

Stroke (also called CVA, cerebrovascular accident)

• Ischemic strokes are caused by blocked arteries (87% of all strokes)

• Hemorrhagic stokes are caused by “brain bleeds” or aneurism (13% of all strokes)

• Symptoms include trouble walking, speaking, and understanding, as well as paralysis or numbness of the face, arm, or leg

• those who are overweight, inactive, drink lots of alcohol, use recreational drugs, have high cholesterol, hypertension, poorly controlled diabetes, obstructive sleep apnea, or heart disease are at greater risk

Psoriasis

• Chronic disease in which the immune system becomes overactive, causing skin cells to multiply too quickly

• Patches of skin become scaly and inflamed, most often on the scalp, elbows, or knees, but other parts of the body can be affected as well

Asthma

• Chronic lung disease

• Affects all ages

• Caused by inflammation and muscle tightening around the airways, making it harder to breathe. A person's airways become inflamed, narrow, and swell, and produce extra mucus, which makes it difficult to breathe

• Symptoms can include coughing, wheezing, shortness of breath and chest tightness. These symptoms can be mild or severe and can come and go over time

• Can flare up due to overactivity

Gallstones

• Hardened deposits of digestive fluid; hard, pebble-like pieces of material, usually made of cholesterol or bilirubin, that form in the gallbladder

• Gallstones can range in size from a grain of sand to a golf ball. The gallbladder can make one large gallstone, hundreds of tiny stones, or both small and large stones.

• Symptoms include steady, severe pain in the upper abdomen that increases rapidly and may last from 30 minutes to several hours, pain in the back between the shoulder blades, pain in right shoulder, fever, nausea, vomiting, chills, jaundice

Liver cirrhosis

• Chronic liver damage leading to scarring and liver failure

• Worsened by excess alcohol consumption

• Symptoms include fatigue, weakness, weight loss. In later stages patients may develop jaundice, gastrointestinal bleeding, abdominal swelling, and confusion

Diabetes

• Chronic condition where the body doesn’t produce enough insulin

• When there isn't enough insulin or cells stop responding to insulin, too much blood sugar stays in your bloodstream. Over time, that can lead to heart disease, vision loss, and kidney disease.

• Type 2: body has trouble controlling blood sugar and using it for energy

• Type 1: present since birth; pancreas makes little or no insulin, leading to high blood sugar levels

• Prediabetes: blood sugar is higher than '“healthy”, but not high enough to be considered type 2

• Gestational: causes high blood pressure during pregnancy

Gastroesophageal reflux disease (GERD)

• Condition in which contents of the stomach move up through the esophagus, irritating the lining

• Chronic disease

• Symptoms:

  • heartburn after eating, worsens while laying down

  • backwash of food

  • dysphagia (difficulty swallowing)

  • sensation of lump in the throat

Gastric/peptic ulcer

A sore on the lining of your stomach, small intestine, or esophagus. Main symptom is abdominal pain, it varies in place from person to person

Irritable bowel syndrome (IBS or spastic colon)

An intestinal disorder causing pain in the belly, gas, diarrhea, and constipation. Symptoms include abdominal pain, bloating, gas, change in bowel habits, abdominal swelling, diarrhea, and constipation.

Celiac Disease

• An immune reaction to eating gluten, a protein found in wheat, barley, and rye

• Over time the lining of the intestines wears away which can lead to malabsorption of nutrients

• Symptoms include bloating, weight loss (can lead to missed periods), pale bad-smelling stool, numb or tingling in legs, tingling, infertility, gas, fatigue, low blood count (anemia), and osteoporosis

Benign Prostatic Hyperplasia (BPH)

• Age-associated (50+) prostate gland enlargement that can cause urination difficulty (not a precursor to prostate cancer)

• symptoms include frequent urination, trouble starting to pee, urination at night

Ectopic Pregnancy

• A pregnancy that can't be carried to term because the fertilized egg grows outside the uterus

• Symptoms include light bleeding from the vagina, pain in the pelvis, shoulder pain can occur if blood leaks from the fallopian tube

Polycystic Ovarian Syndrome (PCOS)

• a hormonal condition causing enlarged ovaries with small cysts on the outer edges

• symptoms include irregular menstruation, excess hair growth, obesity, and acne

Sexually-transmitted infection (STI)

• caused by bacteria, viruses, parasites, or fungi

• transmitted through sexual contact

• can sometimes be transmitted to baby if mother is infected while pregnant

• symptoms include

  • sores or bumps on genitals or in rectal or oral areas

  • painful or burning urination

  • discharge from penis

  • unusual vaginal discharge or bleeding

  • lower abdominal pain

  • painful sex

  • swollen lymph nodes, especially in groin

Hyperthyroidism

• Overproduction of hormones produced in thyroid

• Symptoms:

  • enlarged thyroid

  • increased metabolism

  • unexpected weight loss

  • irregular or fast heartbeat

  • sweating

  • irritability

  • elderly may not show any symptoms

• can be caused by autoimmune disorders or malnutrition causing goiter

Hypothyroidism

• Underproduction of hormones produced in thyroid

• Symptoms:

  • fatigue

  • cold sensitivity

  • unexpected weight gain

  • constipation

  • delayed puberty

  • dry skin

  • brittle nails

• can be caused by autoimmune disorders like Hashimoto’s Disease

Pituitary adenoma

• tumors of the anterior pituitary gland

• mostly slow-growing and benign

• symptoms related to over or underproduction of hormones produced by the pituitary gland

• Prolatinoma causes vision problems from putting pressure on nerves and optical structures or infertility from unbalanced hormones

• Somatotroph cell adenoma causes growth in the hands and feet because of soft tissue swelling from overproduction of growth hormones

Breast cancer/ carcinoma

• Cancers of the breast

• Can affect women but also men

• Symptoms include a lump in the breast, bloody discharge from the nipple, breast pain, and changes in the shape or texture of the nipple or breast

• More general symptoms include fever and swollen lymph nodes

Lung Cancer

• Third most common cancer in the U.S.

• Occurs most often in people who smoke

• Two major types are small cell lung cancer and non-small cell lung cancer

  • non-small cells behave similarly whereas small cell lung cancer spreads more rapidly and usually starting in the bronchi before metastasizing

• Symptoms include cough (often with blood), dull or sharp pain in the chest or ribs, wheezing, unexplained weight loss, shortness or breath, difficulty breathing

Prostate cancer

• A cancer in a man's prostate, a small walnut-sized gland that produces seminal fluid that nourishes and transports sperm

• Symptoms could be difficulty with urination but there are often none at all

Colon cancer

• cancer of the colon or rectum, may begin as noncancerous polyp

• Symptoms: blood in stool, abdominal pain, constipation, anemia, fatigue

Skin cancer

• Some basal cell carcinomas may appear as raised, pink or red, translucent, shiny, pearly bumps that may bleed after a minor injury. They may have a lower area in their center, and blue, brown, or black areas.

• Types include basal cell cancers, melanomas, squamous cell carcinomas