Is a form of polyarteritis nodosa that has granulomas.  It presents with pulmonary disease with upper and lower respiratory involvement in addition to renal involvement.  Often presents with:

• Hemptysis
• Sinusitis
• Oral lesions
• Otitis

Wegner’s is a systemic vasculitis therefore additional systemic symptoms may also be present such as:

• Joint
• Skin
• Eye
• Brain
• GI problems

Diagnostic criteria: 
Best initial test:  (+)ve C-Anti-neutrophil cytoplasm antibodies (ANCA)
CXR or CT:  Nodules, infilitrates, cavities
Sinus CT:  Sinusitis
Most accurate test:  Biopsy of Kidney

Treatment
Cytotoxics:  Cyclophosphamide
Steroids:  Prednisone

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Glomerulonephritis that presents with:

• Asthma
• Cough
• Eosinophilia

Diagnostic Criteria
Best initial test:  CBC for eosinophil count
Most accurate tes:  Biopsy

Treatment
Best initial therapy:  Glucocorticoids (e.g., prednisone)
Additional therapy (if no response):  Cyclophosphamide

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Glomerulonephritis that presents with:

• Cough
• Hemoptysis
• Shorness of breath
• Lung findings

Diagnostic Criteria
Best initial test:  Anti-basement membrane antibodies
Most accurate test:  Renal biopsy (linear deposits)

Treatment
Plasmaphoresis

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All forms of glomerulonephritis can present with:

• Red blood cells in the urine
• Red cell casts in the urine
• Mild degrees of proteinuria (<2 grams/24hrs)
• Edema
• May lead to nephrotic syndrome
• Are most accurately diagnosed with kidney biopsy (although not always necessary)

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1.  Nitroglycerin
2.  Beta blockers
3.  Calcium channel blockers
4.  Aspirin

All of the above are great treatment regimens for an individual with coronary artery disease.
However, be sure to make note these are contraindicated in the setting of a hemorrhage, bleeding or decreased volume states.

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A.  Basic causes of ischemic heart disease:
1.  Decreased oxygen supply
2.  Increased oxygen demand

B.  Causes of decreased oxygen supply:
1.  Narrowing/obstruction of arteries [as seen in CAD]
2.  Decreased circulation of RBC’s [as seen in anemia or hemorrhage]

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1.  Lumbar puncture
2.  EEG
3.  CT scan of the head
4.  MRI of the brain

When should the above tests be conducted

1.  Lumbar puncture - Indicated when patient has fever, neck stiffness, other meningeal signs.
2.  EEG – When neurological exam is abnormal
3.  CT scan of the head – When neurological exam is abnormal
4.  MRI of the brain – When neurological exam is abnormal

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10 year old girl presents to the office with her mother complaining of headaches.  She states her headaches last about 4 hours, are bifrontal and accompanied by nausea and vomiting.  She admits to sensitivity to light and noise during the episodes.  She has had a total of two episodes to date and both times it was preceded by dark spots in her visual field.  The first epidsode was 2 weeks ago.  She does not report any numbness or tingling sensations.  She has no behavioral issues or decline in school performance.  Vital signs today are stable and rest of physical examination is unremarkable.  Which of the following is the most appropriate next step in management?

A)  Lumbar Puncture
B)  CT – Head
C)  EEG
D)  Prescribe Imitrex to prevent next headache
E)  Reassurance and acetaminophen

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1.  Hyaline Membrane Disease – occurs primarily in premature infants, 60-80% in infants less than 28 weeks due to decreased surfactant.  As atelectasis ensues (perfused by non-ventilated alveoli) hypoxia develops; Symptoms include tachypnea, grunting, cyanotic body that is not improved with oxygen, intercostal/subcostal retrations, nasal flaring, duskiness, rales over bases.

2.  Transient Tachypnea - usually follows uneventful normal term vaginal delivery or c-section.  Characterized by early onset of tachypnea, sometimes retractions or expiratory grunting.  central cyanosis that is relived with minimal oxygen.  Lungs are usually clear.  Chest roentgenogram will show vascular markings, flat diagram, pleural fluid occassionaly, which are the differentiating findings.

3.  Persistent pulmonary hypertention of Newborn – usually in term and post-term infants with cyanosis with or without distress.  Persistence of the fetal circulatory patter of right to left shunting thru the PDA and foramen ovale after birth is the cause of the high pulmonary vascular resistence.  Hypoxia is unresponsive to 100% oxygen.

4.  Meconium aspiration syndrome – usually occurs in term or post-term infants either in utero or more often with the first breath:  Thick, particulate meconium is aspirated into the lungs, resulting in small airway obstruction and consequently respiratory distress that presents within 1 hour of birth.  Partial obstruction may lead to pneumothorax or pneumomediastinum.  Pathy infiltrates, coarse streaking of both lung fields and increased AP diameter with flattening of diaphram are typical on chest roentgenogram.

5.  Intracranial hemorrhage - Presents with periods of apnea, pallor or cyanosis, poor suckeling, abnormal eye signs, high-pitched, shrill cry, seizures/convulsions, paralysis or hypotonia.  Bulging fontanel is also seen.  Transfontanel cranial ultrasonography or CT shows hemorrhage to make the diagnosis.

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9 year old boy is brought into the ER by his father because of a sudden onset of jerky movements while writing.  The father claims that the child had a mild sore throat which quickly recovered and now he has become worse all of a sudden.  He had a low grade fever last week but now chills.  On examination today, friction rub is heard on auscultation.  Subcutaneous nodules are seen over his hand.  Blood work reveals an elevated ESR.  Which of the following is the most likely cause of his symptoms today?

A)  Syncytial virus
B)  Streptococcus pneumonia
C)  Group A Streptococcus
D)  Ebstein-Barr virus
E)  Coxsackie virus

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1.  Conduct disorder – disruptive behavioral patterns that violat social normals for at least 1 year.  Aggressive behavior towards others, animals, property, theft and violations.

2.  Oppositional defiant – seen m/c in late childhood/adolescence with disruptive behavior that is negative, hostolie and defiant.

3.  Antisocial personality disorder – >18 yrs age and conduct disorder behavior continues.  Another way to look at this, is this is the outcome of conduct disorder.

4.  Attention deficit hyperactivity disorder (ADHD) – Pt < 7 yrs with impulsivity, inattention, hyperactivity.  Commonly identified first by school teachers.

5.  Substance Abuse – often associated with conduct disorder and school failures however there must be indication of substance in the question stem

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12 week old male infant is brought to your office by his mother complaining of weakness, poor feeding and choking spells during feeding over the past 3 weeks.  He is excessively sleeping, constipated and apathic according to his mother.  Mother’s pregnancy was uneventful and ended with vaginal delivery at 38 weeks gestation.  The childs weight and length at birth were within normal limits.  He is now on a breast milk diet only.  The child’s father is not known.  Mothers family history is unremarkable.  Examination reveals apathy, weakness, hypotonia, large tongue, slugglish movements, abdominal bloating and umbilical hernia.  Which of the following is the most appropriate diagnosis?

A)  Cystic Fibrosis
B)  Myasthenia Gravis
C)  Botulinism
D)  Transesophageal Fistula
E)  Congenital Adrenal Hyperplasia
F)  Drug-induced myxedema
F)  Congenital Hypothyroidism

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1.  21-hydroxylase deficiency
2.  17-hydroxylase deficiency
3.  11-hydroxylase deficiency

Differentiating factor(s):

1.  21-hydroxylase deficiency  (accumulation of 17-alpha-hydroxyprogesterone which shunts to androgen synthesis and decreased mineralocorticoids and glucocorticoids )
2.  17-alpha-hydroxylase deficiency (accumulation of 11-deoxycorticol)
3.  11-alpha-hydroxylase deficiency (accumulation of androgens and mineralocorticoids)
4.  3-Beta-hydroxysteroid dehydrogenase deficiency (results in DHEA-S excess and decreased testosterone)

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Language, Development and Gross Motor Developmental Milestones:

Age:  2 Months
Baby smiles and recognizes you
1.  Social smile
2.  Recognize parents

Age:  3 Months
1.  Holds head without support

Age:  4 Months
1.  Rolls back to front and front to back

Age:  6 Months
1.  Babbles
2.  Sits up well unsupported
3.  Raking grasp
4.  Recognizes strangers
5.  Stranger anxiety

Age:  12 Months
1.  Speaks 2 words
2.  Obeys 1 step command
3.  Walks alone
4.  Throws object
5.  Imitates action

Age: 15 Months
1.  Builds tower of 2 blocks (passed 1 and onto 2)

Age:  18 Months
1.  Plays with other children

Age:  24 Months
1.  Speaks 2-3 word phrases
2.  Obeys 2-step command
3.  Walks up and down without help
4.  Builds tower of 6 blocks
5.  Able to turn book pages
6.  Parallel play

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1 year old child is recovering from an upper respiratory infection and presents to your office today with new onset vomiting.  His mother treated him with over the counter asapir for his viral infection.  On examination he is irritable.  On examination he is irritable, lethargic, agitated and not cooperative.  Height, weight and head circumference are at the 50th percentile.  Pupils are equal and have sluggish reaction to light.  Sclera is non-icteric.  Neck is supple and reveals no lymphadenopathy.  Adomen is flat with normal bowel sounds. 

Labs:  Serum bilirubin = Normal, Serum AST = Increase, Serum ALT = Increase, Prothrombin time = Prolonged

A CT scan of the brain shows cerebal edema.  CSF analysis is normal.  Which of the following is the most likely diagnosis?

A)  Aseptic Meningitis
B)  Carnitine Deficiency
C)  Sepsis
D)  Viral encephalitis
E)  Liver toxicity
F)  Reye’s syndrome

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1.  Gastroenteritis
2.  Congenital adrenal hyperplasia
3.  Cystic Fibrosis
4.  Group B Streptococcal sepsis
5.  Galactosemia 

Common symptoms to all:  Vomiting

Additional symptoms:

1.  Gastroenteritis (fever, diarrhea)
2.  Congenital adrenal hyperplasia (hyponatremia/hyperkalema/met.acid)
3.  Cystic Fibrosis (Salty tasting baby; Increase sweat chloride >80)
4.  Group B Streptococcal sepsis (Increased fever, no electrolyte changes)
5.  Galactosemia  (diarrhea, cataract, MR, hepatomegaly)

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Congenital adrenal hyperplasia refers to a group of inherited disorders of the adrenal gland.

Causes

Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone.

Without these hormones, the body produces more androgen. This causes male characteristics to appear early (or inappropriately).

About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.

Symptoms

Girls will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes:

• Abnormal menstrual periods
• Deep voice
• Early appearance of pubic and armpit hair
• Excessive hair growth and facial hair
• Failure to menstruate
• Genitals that look both male and female (ambiguous genitalia), often appearing more male than female

Boys won’t have any obvious problems at birth. However, they may appear to enter puberty as early as 2 – 3 years of age. Changes may include:

• Deep voice
• Early appearance of pubic and armpit hair
• Early development of male characteristics
• Enlarged penis
• Small testes
• Well-developed muscles

Both boys and girls will be tall as children but much shorter than normal as adults.

Newborns:  Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to a loss of salt. Newborns with these forms develop severe symptoms shortly after birth, including:

• Dehydration
• Vomiting
• Cardiac arrhythmias
• Electrolyte changes (Hyponatremia, Hyperkalemia, Hypoglycmia and metabolic acidosis)

Work Up

• Lab tests:  Sodium, Potassium, Blood Glucose
• ABGs
• High levels of 17-OH progesterone
• High levels of serum DHEA sulfate
• High levels of urinary 17-ketosteroids
• Low levels of aldosterone and cortisol
• Normal or low urinary17-hydroxycorticosteroids
• X-ray for bone age (shows older bones than normal for the person’s age)

Genetic tests can help diagnose, confirm, and manage the disease.

This disease may also affect the results of the following tests:

• Estriol – serum
• Estriol – urine
• Pregnanediol

Treatment

The goal of treatment is to return hormone levels to normal by taking a form of cortisol daily:

• dexamethasone,
• fludrocortisone, or
• hydrocortisone

Chromosomes (karyotyping)

Girls with male-looking genitals will usually have surgery between ages 1 month – 3 months to correct the abnormal appearance.

Prognosis

People with this condition usually have good health. However, they may be shorter than normal, even with treatment.

Males have normal fertility. Females may have a smaller opening of the vagina and lower fertility.

People with this disorder must take medication their entire lives.

Untreated, adrenal crisis can lead to death within 1 – 6 weeks after birth.

Complications

Prevention

Parents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling.

Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. Diagnosis is made in the first trimester by chorionic villus sampling. Diagnosis in the second trimester is made by measuring hormones such as 17-hydroxyprogesterone in the amniotic fluid.

A newborn screening test is available for the most common form of congenital adrenal hyperplasia. It can be done on heelstick blood (as part of the routine screenings done on newborns).

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Intraventricular hemorrhage (IVH) of the newborn is bleeding into the fluid-filled areas (ventricles) surrounded by the brain. The condition is most often seen in premature babies.

Causes

Infants born before 30 weeks of pregnancy are at highest risk for such bleeding. The smaller and more premature the infant, the higher the risk for IVH. This is because blood vessels in the brain of premature infants are not yet fully developed and are extremely fragile. The blood vessels grow stronger after 30 weeks of pregnancy.

IVH is more common in premature babies who have had physical stress, such as respiratory distress syndrome, pneumothorax, or high blood pressure. The condition may also occur in healthy premature babies who were born without injury. IVH may develop in full-term babies, but this is very uncommon.

IVH is rarely present at birth. If it occurs, it will usually be in the first several days of life. The condition is quite rare after 1 month of age, no matter how early the baby was born.

IVH falls into four groups, called grades. The higher the grade, the more severe the bleeding.

Grades 1 and 2 involve a small amount of bleeding and do not usually cause long-term problems.

Grades 3 and 4 involve more severe bleeding, which presses on or leaks into brain tissue. Blood clots can form and block the flow of cerebrospinal fluid, leading to increased fluid in the brain (hydrocephalus).

Symptoms

There may be no symptoms. The most common symptoms seen in premature infants may include:

• Breathing pauses (apnea)
• Decreased muscle tone
• Decreased reflexes
• Excessive sleep
• Lethargy
• Weak suck
• Seizures
• Pallor
• Abnormal eye movements

Work Up

• Physical exam:  Bulging fontanel
• Laboratory tests:  CBC (decreased blood count)
• Screening Ultrasound for all infants born at 30 weeks or prior performd between 7 – 14 days of life.   A second routine ultrasound is suggested close to the time the baby was originally expected to be born.
• A head CT is recommended if a term baby has symptoms after a difficult birth, low blood count, or other signs of bleeding problems.

Treatment

There is no current therapy to stop the bleeding.  Blood transfusion may help the decreased blood count.  Otherwise symptomatic treatment is mandated.  If hydrocephalus develops, a spinal tap may be done to relieve pressure or intraventricular shunt to drain fluid.

Prognosis

How well the infant does depends on the severity of bleeding and whether hydrocephalus developed. Infants with grade I or II bleeding have outcomes similiar to premature babies who do not have IVH.  More severe IVH may lead to developmental delays and problems controlling movement.

Prevention

Pregnant women may be given corticosteroids to help reduce the baby’s risk for IVH.  If patient has bleeding risks, vitamin K should be given before delviery.

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Gynecomastia is a benign proliferation of the grandular tissue of the male breast and it presnts clinically with the presence of a rubbery or firm mass extending concentrically from the nipple.  Pseudo-gynecomastia is the presence of adipose tissue rather than glandular tissue.  Gyncomastia can be physiological (in newborn, adolescent and gynecomastia of aging) or pathological (scondary to drugs, tumors, etc). 

Pubertal gynecomastia is seen in about 1/2 of adolescent boys at an average age of 14 years.  It is often asymmetric or transietly unilateral, frequently tender and it regresses within 16-18 months.  Like women, growth of the breasts in men is mediated by estrogen and results from a decrease in the ratio of active androgen to estrogen.  In males, estrogen is synthesized by peripheral conversion of androgen to estrogen thus the onset of gyncomastia in adolescents correlates with the increase in adrenal androgens at adrenarche.  Also, the LH stimulation of androgen synthesis by the Leydig cell in early puberty may be associated with transient elevations of plasma estradoil resulting in low ratio of potent androgen to estrogen prior to the completion of puberty. 

Adolescent gynecomastia is typically transient and watchful waiting with reevaluation is reasonable in most cases, especially those who do not have substantial pain or tenderness.

Pathological Gynecomastia warrants the need for:

• Biopsy of the breast mass – to rule out carcinoma
• Serum prolactin levels – to rule out prolactinoma
• MRI brain – to rule out pituitary tumors
• Testicular scan – to rule out testicular pathology

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Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails to make enough red blood cells (pure RBC aplasia), which carry oxygen to the body’s tissues. This is identified with a concurrent major decrease in Hb and slight macrocytosis with MCV >=100.  The resulting shortage of red blood cells (anemia) usually becomes apparent during the first year of life. Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).  Diamond-Blackfan anemia affects approximately 5 to 7 per million newborns worldwide

Physical Manifestations

Approximately half of individuals with Diamond-Blackfan anemia have physical abnormalities. They may have an unusually small head size (microcephaly) and a low frontal hairline, along with distinctive facial features such as wide-set eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; small, low-set ears; and a small lower jaw (micrognathia). Affected individuals may also have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). They may have a short, webbed neck; shoulder blades which are smaller and higher than usual; and abnormalities of their hands, most commonly malformed or absent thumbs. About one-third of affected individuals have slowed growth leading to short stature.

Other features of Diamond-Blackfan anemia may include eye problems such as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), or eyes that do not look in the same direction (strabismus). Affected individuals may also have kidney abnormalities; structural defects of the heart; and, in males, the opening of the urethra on the underside of the penis (hypospadias).

Etiology

The primary defect is an intrisic defect of erythroid progenitor cells which results in increased apoptosis.  This leads to th presentation in infancy with pallor.

Diagnosis

Typically, a diagnosis of DBA is made through a blood count and a bone marrow biopsy.

A diagnosis of DBA is made on the basis of:

• anemia,
• low reticulocyte (immature red blood cells) counts, and
• diminished erythroid precursors in bone marrow.

Features that support a diagnosis of DBA include:

• the presence of congenital abnormalities,
• macrocytosis,
• elevated fetal hemoglobin, and
• elevated adenosine deaminase levels in red blood cells

Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified.

About 20-25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene

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