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1. A mother brings her 2 week old infant for his regular appointment. You note that the baby is 1 ounce over his birth weight. Mother is concerned that she does not 'have enough milk'. Her mother-in-law and husband are encouraging her to formula feed since there is 'no difference.'
Discuss the history and physical exam data you would collect to decide whether true lactation failure exists (vs organic failure-to thrive). How would you interpret this baby's weight gain? As part of your management, list the benefits of breast feeding you would discuss with this mother. How would you advise this mother about assessing the adequacy of her milk supply at home?
The history and physical exam is essential to determining the cause(s) of failure-to-thrive, whether it results from non-organic (i.e. lactation failure, child neglect, poor feeding technique, etc…) or organic (i.e. inability to suck, swallow, or masticate; vomiting; elevated metabolic rate; maldigestion, malabsorption, etc.) causes. In this case, where we are concerned about the possibility of true lactation failure, a good history and physical should address the following in addition to the normal H&P:
History of breast surgery with postoperative altered nipple sensation. Previously unsuccessful or close relative unsuccessful with breast feeding. Marked asymmetry or abnormal appearance of breasts or nipples. Minimal or no breast enlargement with pregnancy. Minimal or no evidence of milk coming in or postpartum engorgement. Failure to initiate nursing or breast pumping during postpartum engorgement. Nursing fewer than eight times each day in the first postpartum weeks. Breast not full before feedings or after 4-hour interval without nursing. No sensations of letdown or leaking of milk from the contralateral breast during feedings. Return of menses within the first 3 months. History or presence of mastitis. Currently undergoing stress causing decreased production.
Determine if the mother knows/uses proper technique when breastfeeding (techniques that enhance the drainage of milk such as proper "latch on" and hand expression of milk). Ask whether the infant is still hungry after feeding and whether breasts are empty after feeding. Secondary causes of insufficient lactation should also be pursued, such as a poor feeding routine, in which the infant is not suckling enough to stimulate milk production. In this case, an organic problem with the infant should be pursued in addition to the possible poor feeding routine by the mother. It’s also helpful to observe the interaction between the caregiver and the child as well as obtaining histories from other important adults in the child’s life.
As far as interpreting the baby’s weight gain (1 ounce over birth weight), the typical course of growth entails a weight loss of 5-10% of the birth weight in the first few days. A return to birth weight occurs at about 7 to 10 days of age. Being only 14 days old and 1 ounce over birth weight the infant seems to be coinciding with expected growth rate. Just to be sure, comparing the length/height and head circumference with the infant’s weight can help in determining whether or not failure-to-thrive (FTT) is occurring. Having the mother or other caregivers document the ins and outs of the infant with a dietary journal would also be beneficial in determining whether the caloric intake vs. weight gain is sufficient.
The mother should be told that the advantages of breast feeding over using formula are as follows: · Milk doesn’t need to be warmed, is ready-to-serve, clean-water supply is not necessary, is generally free of microorganisms, does not need clean serving container. · Encourages maternal-infant bonding · Reduces incidence of cow’s milk protein allergy, eczema, and various infections. · Contains protective bacterial and viral antibodies (IgA) and macrophages. · Although iron content is relatively low in human milk, it is more biologically available than cow’s milk. Human milk also contains lactoferrin (iron binding whey protein) that has been shown to inhibit growth of E. coli. · Lysozymes are present that aid in bacterial lysis · Bifidus factor is present, which promotes growth of Lactobacillus bifidus, which therefore inhibits growth of pathogens in the gut. · Antiviral glycoprotein -- (interferon) is also present, as well as Lipase, which aids in fat digestion
Other nutrients are also contained in human milk that are not present in most formulas (i.e. cholesterol, taurine, nucleotides, etc.), whose function/importance are not well understood. When it comes to determining adequacy of feeding/milk supply; hydrated infants tend to void 6 to 8 times per day. Each voiding should soak, not merely moisten the diaper. Should the infant void less than 6 times per day, the mother should be informed to contact the physician. The mother can also utilize a pump and measure the resulting amount in the bottle in order to monitor exactly how much the baby is receiving.
Typically, nursing mothers will produce approximately 750 mL of milk per day when exclusively breast feeding an infant. This production amount is normally maintained for about 4 to 6 months and declines in response to decreased nursing after solid foods have been added to the infants diet. Should the infant’s weight continue to decrease despite the mother/caregiver following dietary advice after a few weeks of documentation, the infant should be admitted and be provided over 100% of the normal caloric requirements for the infant’s ideal weight (adequate nutrition is required for proper brain development in the first 2 years of life).
3. A 4-month-old male presents with severe respiratory distress, bilateral pulmonary infiltrates, oral candidiasis and height and weight percentiles of 5%. He has had persistent diarrhea since birth. Is an immunological evaluation appropriate? Would a t cell or B cell deficiency be the most likely problem? What tests would be appropriate?
This is the clinical picture of an infant with severe combined immunodeficiency (SCID). An immunological evaluation would be appropriate. Infants with SCID usually develop their first serious infection by age 3 months. An infant may fail to thrive and have chronic respiratory, gastrointestinal, or cutaneous infections. A CBC with differential may alert the physician to the possibility of SCID, because most infants are lymphopenic. Peripheral blood T cell subpopulations should be quantified. Infants with SCID usually have less tban 15% CD3 T cells and reduced CD4 cells. Treatment is a bone marrow transplant.
6. While examining a previously healthy 2yo for a preschool physical, you palpate an abdominal mass on the right side of the abdomen. Outline your approach toward diagnosing the etiology for this mass. Include in your discussion the most likely benign and malignant causes for an asympotmatic abdominal mass in a child.
(Asx right abdominal mass
in previously healthy 2 y.o.) Approaches in diagnosing: The first step in diagnosing is a proper history including trauma, pain, onset should be illicited. As far as physical exam is concerned, it was already given that a mass was palpated, however, a further description of the mass such as size, consistency, and more precise location rather than just right sided is a good start. Also, special manuevers and signs (psoas, fluid shift) should be included. The next step includes labs and imaging studies. The most important diagnostic imaging tool in this case is CT imaging. Ultrasound and x-rays are not as useful as a CT scan to diagnose a mass. Also, IVP may be incicated. Lastly, laporoscopic exploration of the mass can be used if necessary. A needle biopsy can be used to confirm a diagnosis and is probably indicated in this case. Labs that will be helpfull in ruling out various pathology includes a UA, CBC, LDH, plasma renin, catecholamines, LFTs with bilirubins, amylase, lipase and alk phos. As for the differential diagnosis, the list includes many items. However, as the question asks for the most likely benign and malignant causes, that is what I will discuss. The most likely malignant is Wilm's tumor, neuroblastoma, and renal cell carcinoma. The most likely benign causes are mesoblastoma, polycystic kidney, and also in the top of the list loops of bowel with hard stool.
10. A term infant with good Apgar scores in noted to be cyanotic at 3 hours of age. In broad terms, what is the differential diagnosis? What diagnostic studies should be performed? What is the initil management strategy for a baby with cyanotic congenital heart disease?
CARDIO PULMONARY CNS HEMATOLOGY METABOLIC EKG
11. A 3 year old male presents with yellow-green drainage and a chronic cough. What additional information is necessary to establish a differential diagnosis?
HPI: Fever? Duration of cough and upper respiratory sx? Other sx such as: sore throat, ears hurting, stinky breath? When is cough worst? Nature of cought (productive?) Any sick contacts?
PMH: Does child have hx of chronic illness? Are wt and ht nl for age? Hx of allergies? Reflux?
Is duration of illness a concern?
YES! Differentiating a URI from acute or chronic sinusitis depends largely on duration of sx and clinical picture. Generally, it is thought that antibiotics are indicated for illnesses that persist > 10 days. What family hx should be obtained? Pertinent points of the family hx may include hx of: Allergies, Cystic Fibrosis, Immundodeficiency disorders, Cilia motility disorders, etc.
What screening laboratory or radiological studies are necessary for dx? None are really necessary at this time unless pneumonia is suspected in which a CXR may be indicated. If this proves a chronic condition, a head CT may be indicated.
What would the difference in PE findings alone, in differentiating viral rhinitis from chronic sinusitis? These would be difficult to differentiate via PE as a viral rhinitis may mimic sinusitis, i.e. swelling of nasal mucosa, etc. Nature of rhinorrhea may or may not differentiate. Some clues towards sinusitis may include: malodorous breath, point tenderness to palpation of face, failure of sinuses to transilluminate (although this is technically difficult to do!) It is important to rule out other possibilities of cough: asthma, pneumonia. It may be helpful to look for evidence of chronic allergic state: allergic “shiners”, allergic salute.
14. A mother brings her 6y/o daughter into the clinic because she suspects the child may have “hay fever”. Outline your approach to this patient in terms of history, physical exam and laboratory data. (Optional: List some therapeutic strategies for management of her “hay fever”, if confirmed by your data collection.)
History: determine onset, severity, type of secretion, and pattern (season, time of day); unilateral mucopurulent suggests foreign body. Note sneezing, nasal itching, burning eyes. Identify precipitating factors including current medications (eg reserpine or B blockers, overuse of nasal decongestants, pollen exposure, allergens, irritants, climate changes). Identify atopic conditions such as eczema, asthma, and allergies in the patient or family. Note predisposing endocrine-related conditions such as hypothyroidism, pregnancy, or menstruation. Do an environmental survey: type of heating system, the bedroom (carpeting, window coverings, mattress, bedding materials, stuffed animals), pets, exposure to smoke and chemical irritants. Seasonal symptoms usually are related to pollen inhalation, perennial symptoms are usually due to dust, mold, dander, or feathers. Other conditions associated with atopy are recurrent/persistent otitis media, sinusitis, epistaxis, or nasal polyps. Other symptoms to look for are loss of senses of taste and smell, chronic cough and clearing of the throat due to postnasal discharge, and chronic malaise and fatigue.
Physical: Look for periorbital edema w/ bluish discoloration (allergic shiners), mouth breathing, transverse nasal crease, dental malocclusion. Nasal turbinates are edematous and pale with a bluish tinge. They are covered with a thin, clear secretion.
Laboratory: nasal smear—have patient blow into a piece of plastic wrap. Smear the secretion onto a glass slide, stain w/ Wright stain, and scan for PMN’s, bacteria and eosinophils. If eos constitute >5% of the total leukocytes, allergic rhinitis is suggested. Sheets of leukocytes and bacteria suggest infection and sinusitis. Also can do skin testing.
Therapeutic strategy: If there is a positive response to skin testing, try to ID environmental precipitating factors. Avoidance of these can then be done. If no factors are ID’d or if skin testing is negative, treat w/ a trial of Cromolyn and/or antihistamines. If these don’t work, add a decongestant. If this doesn’t work consider nasal steroids.
15. A 2-year-old child is brought to the E.R. by his anxious parents. His mother says he has been coughing for 6 hours, having increasing difficulty breathing for the past hour, and has felt “hot” to the touch. You observe an anxious, agitated child, sitting up, and drooling slightly. What are the most important diagnostic possibilities to consider? What is your plan for the immediate management of this child?
Diagnostic possibilities: acute epiglottitis, acute laryngotracheobronchitis, acute spasmodic laryngitis, acute infectious laryngitis, bacterial tracheitis, foreign body aspiration, Ludwig angina, diptheritic croup, measles croup, and retropharyngeal or peritonsilar abscess. Plan for immediate management: With a high degree of suspicion of acute epiglottitis based on clinical presentation, PE should be done quickly and w/o depressing the tongue, as this could lead to laryngospasm. Dx is made by direct observation w/ a laryngoscope or bronchoscope (in the O.R. w/ complete cardiorespiratory support) of infamed and swollen supraglotic structures and cherry-red enlarged epiglottis. H. Influenza type b may be recovered from the surface of the epiglottis and blood culture. In patients w/ mild stridor and who are not acutely ill, lateral neck view radiographs of the nasopharynx and upper airway displaying the “thumbprinting sign” are useful in determining if epiglottitis is present. After visual confirmation of the epiglottis, the patient should be intubated and given ventilatory support until edema subsides, usually after several days. IV antibiotic therapy is given for 7 to 10 days and is directed against H. Influenza type b. The initial agent of choice is a 3rd-genereation cephalosporin. Ampicillin should be substituted if the causitive organism is sensitive to this antibiotic.
16. A mother brings her 18-month-old boy for a scheduled well baby visit. She is concerned about the fact that the neighbor’s 17-month-old can do more than her child can. By history he sat alone at nine months, started pulling up at 14 months, but does not yet walk. He says “dada” appropriately, but no other words. He is just beginning to use a three-finger grasp and to do some finger feeding. What clinical problems suggested by this child’s developmental pattern and what are some causes for it (differential diagnosis)? How would you respond to this mother’s concern? What additional information would you obtain to arrive at a diagnosis? How would your differential diagnosis and approach change if the child walked well but said no words?
This child seems to be developmentally delayed. The child should sit alone at 7 months, should be able to pull to stand around 9 months, and by 18 months he should be able to stack 4 cubes and use a cup and spoon.
Differential Diagnosis- cerebral palsy; hearing or vision problems; autism; specific learning disability; endocrine and metabolic problems; abusive environment; chronic illness (lead poisoning); Chromosomal abnormality; prematurity could also be a problem; does the child have brothers and sisters because the later born child is often delayed.
In responding to the mother’s concern a physician should not label the patient as having developmental problems until more confirmation is done. If the tests do confirm a developmental delay reassure the parent that a child’s performance may vary greatly depending on the environment etc. Don’t give false hope but developmental tests are poor predictors of future performance.
To arrive at a diagnosis a good prenatal, perinatal, postnatal, and family history needs to be taken. You need to do diagnostic tests to see if it seems to be a global or a selective problem. Find out if the child could do certain tasks and now has regressed or if the child has always been behind on certain milestones. Also ask questions about the child’s environment. Hearing and vision tests are very important. One should also do a complete H&P so that you can observe the child yourself. Longer testing and observation sessions may need to be done. You also need to recognize any dysmorphic features, skin pigmentation changes, or any other anomalies.
A differential diagnosis for a child with normal motor development but improper language development would include, Hearing Problem, Mental Retardation, Dysphasia, Autism, Dysarthria, Structural Problems, Elective Mutism, and Abuse. In approaching this child you would look at a more selective problem instead of a global problem.
19. A 2yo is brought into the ER after a neighbor found the child drinking a bottle of “something that was in my garage.” The bottle was unalabelled, but the frantic neighbor thinks it was either gasoline, insecticide or Liquid PlumR. Outline the steps you would take in this child’s immediate management, including items in the Hx & PE that would help you further define the problem, as well as specific management steps for each of the possible ingested substances.
In any case of poisoning, always acquire a brief history of the exposure. Information should include confirmation of the poisoning, identification of the poison, route and dose, time of exposure, any symptoms that have already occurred, preexisting medical conditions, and usage of medications. Treat the patient like any other critically ill patient and evaluate and support the ABCs. Pay close attention to respiratory pattern and effort, BP, CNS function, and hemodynamics. Smelling the patient’s breath can sometimes help in determining the type of poison since some have distinct odors. Certain poisons cause autonomic toxicity syndromes, while others have characteristic clinical signs like coma, cardiac arrhythmias, metabolic acidosis, seizures, or GI symptoms. All victims of poisoning should have an ECG as well as the following labs done: CBC, lytes, BUN, glucose, ABG, and serum osmolality. Combining the history, physical, and laboratory data should allow for a limited differential diagnosis and appropriate management. Hydrocarbon (gasoline) ingestion can cause fever, N/V, GI bleeding, confusion, and coma. No gastric emptying is necessary, and hydrocarbons do not bind to activated charcoal so it should not be administered. The key in this poisoning is to prevent aspiration, because it could result in chemical pneumonitis and significant lung damage. Organophosphates (insecticide) cause a cholinergic toxic syndrome (confusion, seizures, salivation, diaphoresis, incontinence, pulmonary edema, muscle fasciculations, etc.) and sometimes coma. Inducing emesis would not be indicated in this case since there is potential for seizures or coma. Gastric lavage would be appropriate if the patient was intubated, followed by activated charcoal to absorb any remaining substance in the stomach. If a very large amount of insecticide was ingested, then whole-bowel irrigation may be indicated. Atropine should be given prophylactically. Organophosphates are also one of few poisons that have antidotes for their mechanism of action, and in this case pralidoxime chloride would be appropriate if the cholinergic symptoms were significant. Initial signs and symptoms of a caustic ingestion (Liquid PlumR) include drooling, vomiting, stridor, and possibly nausea, abdominal pain and tenderness. PE may reveal erythema, edema, ulcers, or grayish-white mucous membranes in the oropharynx. An important consideration should be of laryngeal edema causing respiratory obstruction (especially when stridor is present), so careful attention must be paid to maintaining an airway. The most feared complication of caustic ingestions is of extensive esophageal or gastric burns, so esophagoscopy is indicated in every case of significant ingestion. DO NOT induce vomiting with caustic ingestions so that exposure of the agent to the esophagus and oropharynx is minimized. Withhold oral feedings, but as soon as the child can swallow, fluids should be given by mouth. Careful observation for the development of complications like perforation, hemorrhage, or sepsis should be undertaken. Severe burns of the esophagus should have a follow up esophagoscopy in a few weeks to look for strictures.
Sources: Rudolph’s Fundamentals of Pediatrics. Chap. 10 Blueprints in Pediatrics. Chap. 2
21. A 10yo boy is brought to clinic for concerns regarding school performance by his mother. His past medical history has been unremarkable as was early developmental history. Hearing and vision screening through your office and the school has been normal. He is now in the fourth grade. School performance and behavior were appropriate in years K-2. Last year he struggled with reading and teacher comments noted “neatness” as an area needing improvement.
Problems this year include disruptive behavior during reading, inattention to task, especially during written work, and failure to complete assignments.
What is you diff dx for the problems identified in school? What additional history would be helpful? Describe the focus of your physical examination related to your diff dx. Would specific information from school assist you in your determination?
Diff. Dx: Neurologic disorders Chronic medical Illness Medications that affect the CNS function Learning disabilities (ex: dyslexia) School Refusal Major depression ADHD Serious emotional disturbance Lack of family involvement in their children’s education Diminished community educational resources
Additional Hx: Should ask child and parents about school attendance, homework management, favorite and least favorite subjects, interactions with the teacher, degree of comfort in relationships with classroom peers, popularity with peers, best friend in school, and visits to other friends’ homes. Should also assess the interection between child and parents to determine if there is any anger, anxiety, or distance. It may be also important to determine if there are/where any changes in homelife.
Physical Exam: Should assess age-appropriate academic skills, starting with easy tasks and then progressing to more difficult tasks. A review of counting skills, reciting the alphabet, spelling first name forward and backward, testing math facts, and having the child tell a familiar fable or story may quickly highlight areas of concern such as problems with memory or language, articulation difficulties, calculation concerns, or problems with organizational skills. Drawing tasks such as writing the letters of the alphabet, drawing a picture of family members, and copying Gesell figures may highlight potential fine motor or visual-perceptual difficulties. Assessing the child’s attention to tasks, general level of impulsivity and physical activity can provide further clues to areas that require more intensive investigation. Prudent diagnostic tests to confirm concerns about possible medical illness, medication toxicity, or toxin exposure may clarify the situation further.
School Info: Should determine whether: The child fidgets with hands or feet or squirms in seat. If child has difficulty remaining seated when required to do so. If the child is easily distracted by extraneous stimuli. Has difficulty awaiting turns in games or group situations. If the child blurts out answers to questions before they have been completed. If the child has difficulty in following directions. Difficulty sustaining attention in tasks or play activities. Shifts from one uncompleted activity to another. Difficulty playing quietly. Talks excessively. Interrupts or intrudes on others. Doesn’t seem to listen to what is said to him. Loses things necessary for tasks or activities at school or at home. And if the child engages in physically dangerous activities without considering possible consequences.
23. A 15 mo-old girl, new to the area, presents for well baby care. Mother is concerned about the child’s hearing, reporting she doesn’t talk as well as her older sister did at this age.
What elements of the child’s past medical and/or family hx are pertinent to the mother’s chief complaint? What specific questions would you ask the mother in assessing chil’s speech/language development? What features of her physical examination are particularly relevant to the chief complaint?
Assume you confirm the mother’s suspicion that speech is delayed. Your physical examination and other features of her developmental assessment are unremarkable. How would you proceed? How would your advice to Mother differ if speech language development was also age appropriate?
Medical history pertinent to suspected hearing loss: prematurity, perinatal asphyxia, prolonged aminoglycoside use, known CNS insults, family history of prior syndromes or hearing and language problems, abuse or neglect. Specific questions include past medical history, family history, and other questions like, “Does your child startle with loud noises?” Physical exam should include identifying abnormal growth patterns (esp. microcephaly), congenital anomalies and dysmorphism suggestive of an underlying syndrome or perinatal insult, neurologic abnormalities, ear pathology, and abnormalities of the oropharynx. In the office, screening instruments such as the Early Language Milestone (ELM) scale or Clinical Linguistic Assessment Measurement could be used. A formal hearing assessment using behavioral or brainstem-evoked response audiometry should be performed. If speech and language were determined to be appropriate, follow-up should be scheduled for a few months to reassess the infant’s language development.
26. A preschool child presents to you with the acute onset of limp and inability to bear weight. Construct a differential diagnosis of disorders that you would consider most important. Outline what are the important historical questions and physical exam findings in your analysis of this problem. What laboratory tests might be useful to help sort out the items in your diff. Dx?
(acute onset of limp and
inability to bear weight) Differential: toxic
synovitis/ septic arthritis/infection, trauma (fracture, History: of trauma, foreign
bodies, tick exposure, animal bites, recent Physical Exam: vitals,
edema, erythema, heat, foreign body present (look Labs: based on history and
exam--may need x-ray, cbc, c-rp, rheumatoid factor
30. A 16yo boy with
Crohn's disease has developed anemia. List Diff dx for his anemia. How might his
GI disease complicate his anemia?
31. An 8 month old male infant is admitted to the hospital with severe diarrhea and vomiting of two day’s duration; last urination was 12 hours earlier. The infant appears weak and lethargic. He has dry mucous membranes, a shrunken fontanelle, moderately decreased skin turgor and no tears. He wt is 9 kg and ht is 28”.
After initial hydrating solution of Ringer’s lactate resulted in urination, the initial serum electrolytes are reported as: Na: 115 K: 3.0 Cl: 80 CO2: 18
Outline your fluid treatment for this child. Include specific written orders for IV fluids over the 1st 24 hours. What is your estimate of the deficits of volume, Na+, K+?
By the clinical presentation, this child appears moderately dehydration. Approximately a 10% loss. (As child is an infant/<20 kg).
Thus for this child, Lactated Ringers, with 130 mEq Na/L, may be an appropriated fluid to use for resuscitation. Also, this infant’s bicarbonate was low, probably due to GI loss, the bicarb included in LR may be beneficial.
We want to raise the infant’s sodium slowly, therefore, a slow continuous rate of infusion is best. Also, 40 mEq of KCl may be safely added as the infants ability to make urine has been proven: LR + 40 KCl @ 75 cc/hr x 24 hr. The child should be followed closely and a BMP checked periodically to ensure a safe rate of rise in Na level.
32. While working in the Emergency Room the orthopedists consult you about a 6-month-old boy with a spiral fracture of the right femur. His parents brought him in with a chief complaint of “rolling off the couch two days ago” His physical exam reveals multiple ecchymoses over the body. What are the major diagnostic considerations? What additional questions would you ask these parents in attempting to further define the problem? Why might you question the original history?
The major consideration is the possibility of child abuse. In a situation such as this, x-rays of the body looking for old fractures, and the finding of different stages of bruising, may help in diagnosing. Certain skin conditions, Mongolian spots, osteo genesis imperfecta, and other inborn problems need to be ruled out.
You want to ask the family about possible stressors in the household. You also want to find out who is the primary care giver of the child. In taking a good history you will be able to see some inconsistencies and possible reasons that the abuse occurred.
You would want to find out why the parents decided to bring the child in two days after the accident. The history of the injury is very inconsistent. A child rolling off of a couch should almost never have a fracture. Spiral fractures in children are very uncommon, and can be virtually diagnostic of child abuse. The fact that the parents delayed getting medical attention and that the child has multiple ecchymoses over the body strongly suggests child abuse.
34. You attend the emergency C-section delivery of a newborn infant for fetal distress. The attending obstetrician informs you that the mother is a known alcoholic. Prenatal care was sporadic; she was noted to be intoxicated at most of her few prenatal visits. Screening upon this admission to Labor and Delivery was positive for a high blood alcohol level (above the legal level of intoxication).
What are the physical signs you would look for in this infant? What are the diagnostic criteria for Fetal Alcohol Syndrome (FAS)? What is the expected neurologic (intellectual) level of function for this child? Discuss your approach to the counseling with this mother. Describe your modifications (if any) in the medical follow-up of this child as compared to normal health maintenance visits.
Physical signs: Growth: pre- and postnatal onset growth deficiency.
Craniofacial: mild to moderate microcephaly, short palpebral fissures, maxillary hypoplasia, low nasal bridge, short upturned nose, smooth philtrum with thin and smooth upper lip.
Skeletal: joint anomalies including abnormal position and/or function, altered palmar crease patterns. Small distal phalanges. Small fifth fingernails.
Cardiac: heart murmur, frequently disappearing by 1 year of age. Ventricular septal defect most common, followed by auricular septal defect.
Behavioral: irritability and decreased sucking performance during infancy; hyperactivity and learning problems in childhood.
Others: ptosis of eyelid, frank microphthalmia, cleft lip with or without cleft palate, micrognathia, protruding auricles, mildly webbed neck, short neck, cervical vertebral malformations, rib anomalies, tetralogy of Fallot, coarctation of the aorta, strawberry hemangiomata, hypoplastic labia majora, short fourth and fifth metacarpal bones, meningomyelocele, hydrocephalus.
**Sometimes there is tremulousness in the early neonatal period. Also, postnatal linear growth tends to remain retarded, and adipose tissue is thin. Together, these often create a “failure to thrive” interpretation.
Diagnostic Criteria: The Institute of Medicine has defined diagnostic categories in patients with documented maternal alcohol consumption as follows: Fetal Alcohol Syndrome: The diagnosis of FAS requires growth retardation, evidence of CNS neurodevelopmental abnormalities, and a characteristic pattern of facial anomalies including short palpebral fissures, flat upper lip, flattened philtrum, and flat midface. Partial fetal alcohol syndrome (PFAS): The diagnosis of PFAS requires the presence of some but not all components of the facial anomalies as well as growth retardation, CNS neurodevelopmental abnormalities, or behavioral or cognitive abnormalities that are inconsistent with the child’s developmental level and cannot be explained by familial background or environment. Alcohol-related neurodevelopmental disorder (ARND): This category of involvement does not require the presence of facial dysmorphic features, but it does require the presence of CNS neurodevelopmental abnormalities (such as microcephaly, CNS structural defects, or neurologic hard and soft signs) or evidence of a complex pattern of behavioral or cognitive abnormalities as outlined above. These abnormalities may include learning disabilities, poor impulse control, and problems in memory, attention, or judgment.
Neurological/Intellectual Function: Developmental delay and mental deficiency (IQ 50 to 85); fine motor dysfunction (i.e. tremulousness as a newborn, weak grasp, poor eye-hand coordination). In one study of 8 children diagnosed with this disorder, the average academic functioning was at the fourth grade level with arithmetic deficits most characteristic. Abnormal behavior such as poor judgment, distractibility, and difficulty recognizing social cues were common.
Counseling of Mother: On diagnosis, there is an initial sense of shock, followed by a period of adjustment. Anger, disappointment, denial, and guilt are common. Some parents become depressed and withdrawn, while others experience positive feelings and regard their child as ‘special’. Some parents become overprotective, leading to isolation of the child from peer-groups (v. bad for the child). The physician should assess the type of reaction the mother is having and deal with the specific emotions she is feeling, etc. Parental stress may be reduced by giving the mother further information about the condition and allowing her to ask questions. The natural history and long-term implications should be discussed. She can also be given information about family support groups in the area.
Medical follow-up of the child: During health care maintenance visits of this child, the physician must be on the lookout for signs of developing problems. The majority of children with alcohol related syndromes present with ADHD symptoms, with or without significant developmental delays. Mental health problems are observed in over 90% of those affected. Depression, panic attacks, anxiety and mood instability are common. Psychotic ideation is present in 20-40% therefore emotional or psychiatric evaluation is essential. Long-term therapy and special education services are usually needed, and psychopharmacological intervention may be helpful.
Other things to consider are speech and language evaluation, and occupational therapy evaluation. The most significant problem in these individuals is the high rate of legal problems, incarceration, and alcohol or drug abuse. Long-term counseling and advocacy, along with intensive job training usually keeps them out of trouble, but the failure rate is high.
In addition, evaluation of all the body/organ systems must be done with regards to the possible internal abnormalities that are common in FAS children. See the ‘physical signs’ section above for examples of these.
35. A 3-year-old boy w/ a history of a cold 2 weeks ago presents for bruising. His PE reveals diffuse petechiae and bruising. CBC: WBC 13,500 (segs 50, band 0, lymphs 45, monos 5) Hgb 9.8, Platelets 8,000. Give the differential dx and list features of the CBC that could differentiate between ITP and ALL.
Differential Dx: Idiopathic thrombocytopenic purpura, drugs (i.e. heparin, asprin, seizure meds), aplastic anemia, leukemia, hypersplenism, sepsis, SLE, virus-induced hemophagocytic disorder, ITP w/ autoimmune hemolytic anemia (Evans syndrome), AIDS, DIC.
CBC of ITP: Platelet count is very low and may be below 20,000. White count nl; high lymphocyte count may reflect recent viral infection. Anemia not present unless there has been significant bleeding.
CBC of ALL: Most patients have anemia. About 25% have hgb below 6. Most have thrombocytopenias, w/ about 25% having platelet counts above 100,000. A significant amount of patients w/ ALL have WBCs less than 3,000 and about 20% have them greater than 50,000. Abnl diffs are common.
In this patient the dx is not made completely clear by CBC alone, although the profoundly low platelet ct. suggests ITP (in fact, the only thing going against ITP is the slightly high WBC). The history is suggestive of ITP: While both ITP (frequently) and ALL (sometimes) may be proceeded by a viral illness, ALL patients appear to never recover from the illness. Blood smears and bone marrow samples can help to differentiate the two.
39. The differential diagnosis of this patient includes:
The CBC indicates that the patient has low hemoglobin & hematocrit, low platelets, low retics, and microcytic indices (MCV<80). These findings alone begin to limit the differential diagnosis for the cause of anemia. The microcytic indices and low reticulocytes (<2%) indicate that there is a problem with the maturation of the blood cells, as opposed to a hemolytic anemia which would have high reticulocytes and macrocytic indices. The presence of thrombocytopenia in addition to the anemia may be suggestive of a leukemia, hemolytic-uremic syndrome (HUS) or aplastic anemia.
The physical findings in this patient are somewhat general and are of limited use in narrowing the diagnosis. Pallor, tiredness, and splenomegaly are all found in several different types of anemia. The petechial rash is a nonspecific finding for thrombocytopenia as well. A more thorough history should be obtained, specifically, a history of any recent illnesses, any medications he is taking, and a family history since these will all help rule out different causes of anemia.
Having already obtained an H&P on this patient, and having obtained a CBC w/ diff (the two first steps in the evaluation of anemia), there remains only a few more steps that need to be undertaken to focus our diagnosis. A look at the red cell morphology will aid in the diagnosis, as well as a marrow biopsy and iron studies. The RBC morphology should always be analyzed since it is simple to do and is very useful for diagnosis in that the RBCs can look very different in various types of anemia. A bone marrow biopsy will inform us of the status of hemopoiesis, as well as the condition of the marrow in general, including whether or not there is aplasia, hypoproliferation, or neoplasm. Iron studies will establish the presence of a deficiency of this element as the cause of the anemia.
The following chart shows the appropriate labs for working up anemia. The CBC w/ diff, RBC morphology, and reticulocyte count tests are absolute requirements for any patient with anemia. The iron and marrow studies may not always need to be performed, and the specific tests should only be done if the disorder is high on the differential.
41. A 3yo female presents to the outpatient clinic with the acute onset of dysuria, frequency and hematuria. Construct an initial diff dx for this patient and outline the important historical questions, physical findings and laboratory tests you would do at this first visit. How would you treat this young girl and what would be your plans for further follow-up?
Initial Diff. Dx: UTI Candidal dermatitis/Vaginitis Chemical urethritis (i.e. bubble bath) Contact dermatitis/Vulvitis Urethritis Viral cystitis Foreign body Herpes simplex Meatitis Pinworms Urethral trauma/Sexual Abuse If child also had increased BP with hemolysis (Nephritis), consider kidney trouble If also had proteinuria and edema, consider a Nephrotic syndrome
History and Physical: In addition to the traditional H&P, questions on the duration of symptoms, the frequency of urination, any aggravating and alleviating factors, and any known trauma/sexual abuse should be sought out. The physical should note the vital signs, look for edema, do a complete abdominal exam, and should the history and initial physical exam direct you towards the possibility of trauma/abuse, a pelvic exam should be performed.
Labs: Urinalysis (is common to have a normal UA in children with UTI’s) Urine Culture
Treatment: Amoxicillin 25-50 mg/kg/d po divided q 8-12 hrs. is the first choice Bactrim may be used as a second line treatment, although it is unreliable against Strep
43. This child is not growing well and may be slightly developmentally delayed, but not much. Her weight is not keeping up with the expected curve.
Causes of inadequate weight gain: Inadequate intake Poverty Mechanical feeding problems (watch pt. eat, barium feeding study) Calorie wasting Persistent vomiting (ask about reflux, rumination) Diarrhea (GI disease, cystic fibrosis, infections, endocrinopathies – get appropriate labs like chloride sweat test, stool culture, O & P, growth hormone) Renal losses (diabetes, ATN, order a BMP) Increased caloric requirements Congenital heart disease (echocardiogram) Chronic respiratory disease (CXR, spirometry) Neoplasm Hyperthyroidism (Free T4, TSH) Chronic or recurrent infection (CBC w/ diff, sed rate) Altered growth potential/regulation Prenatal insult Chromosomal abnormalities (appropriate chromosome studies) Endocrinopathies (GH, etc.)
46. 2 hour newborn who
looks fine but is having difficulty maintaing his temperature, and mother had
prolonged membrane rupture, fever, and may have had "female infection." ddx: #1 cause is sepsis
(most likely organism=Group B strep.)or pneumonia. This would be the case for
about 70% of the time with this presentation. The other 30% can be attributed
to other anomalies such as congenital heart disease, and also to
hypothyroidism. labs/mngmt: Depending on the presentation, immediate antibiotics are initiated before blood cultures and lab work has been done. According to the algorithms of sepsis in the newborn, the highest risk is a premature baby, second is if the mother is Group B strep +, third is if maternal fever is present, and fourth is prolonged membrane rupture. One of the top 2 or both along with a lethargic baby who cannot maintain his temperature are indications of empiric antibiotic usage. In this case, only the last 2 events are true which means a lab work-up is to be done first. A lab work up should include blood sugars (decreases in sepsis),CBC w/ dif. serial to check for a drop in WBC and/or increase in bands, blood cultures, c-reactive protein. A chest x-ray should also be done to rule out pneumonia. As for medications ampicillin 300mg/kg/d and gentamicin are used for GBS+.
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