Case files 3 Flashcards by Robby Skinner

2 big signs of DMD

Waddling gait and progressive proximal muscle weakness (pushes off floor to stand up –> Gower sign)

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2 initial DMD tests

Serum CK (elevated from muscle destruction)
DNA analysis of blood
Serum CK can also be elevated in females who are carriers

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When does DMD begin to act

3-5 years, normal before that

Wheelchair dependent by 10-13 years

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All DMD patients have some degree of? What is often the cause of death?

Cardiomyopathy

Respiratory failure is often the cause of death

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Atopic dermatitis features

Pruritic, recurrent, and flexural in older children and symmetrical in adults

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3 waves of AD

Infant: 12 - near onset of puberty

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Seborrheic dermatitis limited to? Tx?

Areas of the skin with high concentrations of sebaceous glands (cradle cap)
Tx is ketoconazole
Brown and not weepy like AD

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Why are fluorinated steroids avoided on face

May depigment and thin the skin

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Kid with hives likely etiology

Recent antibiotic use

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Cutaneous herpes simplex in infants likely found in

Areas or recently healed or active atopic dermatitis

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Thrombocytopenia, Immunodef, and eczema

Wiskott-Aldrich

look for infections and bleeding in first six months of life

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Baseline therapy for atopic dermatitis

Avoidance of drying soaps and replenishment of skin hydration with emollients
steroids may be added

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Paraneoplastic syndrome related to

tumor production of catecholamines and VIP

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What is a neuroblastoma made of? Where does it met?

Primitive neuroendocrine tissue

Mets to long bones, skull, lymph nodes, liver, and skin

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Blueish skin in neuroblastoma in infant represents? Other major sign

Subcutaneous infiltration

**Raccoon eyes: proptosis and bluish periorbital discoloration

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Wilms tumor features

Hematuria, hypertension, and localized abdominal mass that RARELY crosses the midline (unlike neuroblastoma - generally younger and sicker)

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Neuroblastoma labs

Elevated VMA and HVA levels

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Palpable abdominal mass in newborn likely

Hydrfonephrotic or multi cystic dysplastic kidney –> US for workup and dx

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In baby intestinal obstruction (bilious vomiting), distention, blood per rectum and lethargy likely? Next step?

Malrotation with volvulus

Call surgery to remove necrotic bowel and reperfuse

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Most common site for intussesception

Ileocolic portion of bowel

Ligament of treitz attaches to right side instead of normal left

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Electrolyte levels in hypertrophic pyloric stenosis

hypochloremic metabolic alkalosis

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What distinguishes NEC from malrotation

Pneumatosis intestinal (air in wall of the small bowel)

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Current jelly stools in kid

Intussusception

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Most common cause of severe urinary tract obstruction in boys? Workup?

Posterior urethral valves

Workup: Voiding cystourethrogram or USG and bladder cath, surgery after stabilization

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Test for any young male(

Anatomic workup

PUV risks

25%-30% risk of ESRD

Injury when child pulled by arm and holds arm close to body with elbow in flexed position? what else will child do

Subluxation of the radial head (occurs when sudden traction on extended arm) Child will also resist passive movement of the arm

How will child hold arm in subluxation of the radial head? PE?

Will hold the affected arm close to their body with the elbow flexed and forearm pronated Absence of bony tenderness and swelling on exam

Tx for subluxation of the radial head

Supinating the child's forearm with the elbow in flexed position while applying pressure over the radial head *If not successful after 2-3 tries, XRAY*

First steps to examen suspected physical abuse

H&P and skeletal survey (to asses new and old injuries) | *If further questions remain - call CPS*

TTP pentad

Fever, microangiopathic hemolytic anemia, abnormal renal function, CNS changes

Most common thrombocytopenia in an otherwise well child usually aged 2-4 years? From what

ITP | Probs immunologic etiology triggered by a preceding viral inlines with following autoantibody development.

ITP bone marrow exam? Most serous ITP complication

Shows increased number of megakaryoctes | Most serious complication is intracranial hemorrhages (

Vaccine to use cautiously in ITP patients

MMR (known to cause thrombocytopenia)

First steps in suspected ITP

Physical exam and blood smear

Peripheral smear of HUS shows

Helmet cells, Burr cells, and fragmented RBCs

Long bone fracture that is ass with inflicted injury

"Bucket handle fracture" or classic metaphysical lesion and spongiosa region of the ends of long bones, looks like bone fragments

Fundoscopic exam for shaken baby syndrome may show

Retinal hemorrhages

Most common form of child abuse

Neglect

Bruise areas less likely to be accidental trauma

Abdomen, face, neck, butt, thighs, inner arm

How do intentional hot water burns usually look

Sharply demarcated border or "stocking glove" distribution

OI mutation

COL1A1 or A2 of type 1 collagen

Kawasaki other name

Mucocutaneous lymph node syndrome

"Classic" Kawasaki's

5 day son fever and 4 of: Bi conjunctivitis, oral involvement/erythema, generalized rash, edema of extremities/redness, cervical lymphadenopathy

Labs of Kawasaki's? tx?

Elevated ESR and CRP, normocytic anemia, leukocytosis, thrombocytosis High does aspirin and IVIG

Scarlett fever rash

Sandpaper like with streaks of linear petechiae on flexural areas

Who do you call for suspected Kawasaki's

Cardiology

HIV mom has what chance to pass to infant if no therapy

25%

HIV test for patients under 18 months

HIV DNA PCR testing (two assays on two separate occasions)

HIV ppx for babies if no AZT given during pregnancy

Nevirapine

Leukocyte adhesion def findings

Recurring sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing

When do klinefelter's patients often get diagnosed? Should be considered for what folks

Puberty - from subtleness of clinical findings | For all boys who have been identified with ID, psychosocial, school, or adjustment problems

XYY male findings

Explosive tempers, long and asymmetrical ears, increased length for hands and feet Mild pectus excavatum

Fragile X findings

Males with ID and macrocephaly, long face, high arched palate, large ears, and macroorchidism after puberty

First two steps in DKA

IV fluids and IV insulin administration

How do you measure true serum Na in DKA

Add 1.6 mEq/L for every 100 mg/DdL of serum glucose above the normal range *Hyponatremia seen can be dilutional from increased serum glucose*

When to give dextrose in DKA

When serum glucose drops to 250-300 range to prevent inadvertent hypoglycemia

Biggest complication of DKA

Cerebral edema

Why do you continue insulin in DKA when hyperglycemia is corrected

Hyperglycemia gets corrected sooner than acidosis, continue insulin until gap is closed

OSA risk factor for what CV issues? Theory why?

Left and right ventricular hypertrophy and elevated BP | Possible up regulation of inflammatory markers (elevated CRP)

What is primary snoring

Snoring without associated respiratory disturbances

Most common cause of younger kids OSA? older?

Adenotonsillar hypertrophy, obesity in older

What is seen in adult OSA but not as much in kids

Excessive daytime sleepiness

Growth rate in first year of life

23-28 cm a year

Common cause of short stature

Constitutional growth delay - "bone age = height age" or normal growth rate, just short *One parent had late onset puberty*

GH def features

Growth just drops off, boys appear chubby (weight continues normally)

What does true precocious puberty stem from? Ages seen?

Secretion of hypothalamic GnRH with normal but early appearing progression of pubertal events Before 8 in girls and 9 in boys

Major cause of precocious puberty in boys? Girls?

Structural CNS abnormality in 25-75% of boys | Idiopathic in 90% of girls

Goal of treating precocious puberty

To prevent premature closure of the epiphysis, allowing the child to reach full adult growth potential

Drug for precocious puberty

GnRH agonists (best in rapidly progressing central precocious puberty)

Case files 3 Flashcards

(70 cards)