168

USMLE Step 2 (Fach) / Pediatrics (Lektion)

Diese Lektion wurde von estoffel erstellt.

Lektion lernen

zurück  |  weiter 3 / 4

• Transient synovitis Epidemiology:- Common cause of acute hip pain among children- Peak incidence: 4-10 years of age- Sex: ♂ > ♀ (2:1) Clinical features:- Unilateral and transient hip or groin pain- Recent upper respiratory tract infection in up to 50% of the patients Diagnostics:- Laboratory: mostly normal (but some cases present with mild leukocytosis and ESR elevation)- Normal x-ray- Effusion on ultrasound that should improve over the course of several days Treatment: conservative (i.e., NSAIDs) Important differential diagnosis to Legg-Calvé-Perthes disease.
• Osgood-Schlatter disease Avascular necrosis thought to arise from overuse of the quadriceps muscle during periods of growth. Epidemiology:- Age: adolescents; on average 9-14 years old- Sex: ♂ > ♀ (3:1) Etiology:- Overuse (especially sports involving sprinting and jumping) during the ossification period (adolescence) → excessive strain of the patellar ligament on the tibial tuberosity → inflammation → traction apophysitis- Chronic inflammation of the patella ligament can disrupt the secondary ossification of the tibial tuberosity → detachment of the apophysis possible → subsequent callous formation during the healing process results in a pronounced tibial tubercle Clinical features:- Anterior knee pain that is worse with activity and is reproducible with extension against resistance- Proximal tibial swelling Diagnostics:- X-ray→ Anterior soft tissue swelling→ Lifting of tubercle from the shaft→ Irregularity or fragmentation of the tubercle- Ultrasound: soft tissue swelling Treatment - Mostly conservative (rest, ice, NSAIDs )- Strengthening and stretching of the quadriceps muscle- Generally resolves once full bone maturity is reached- Surgical excision of intratendinous ossicles in severe cases
• Osteosarcoma Malignant, osteoid and bone-forming tumor arising from mesenchymal stem cells (osteoblasts) located in the periosteum. Etiology:- Primary osteosarcoma: unknown- Secondary osteosarcoma: Paget's disease of bone, radiation injury, bone infarction Epidemiology:- Incidence: bimodal distribution- Primary osteosarcoma: puberty/adolescence- Secondary osteosarcoma: advanced age- Sex: ♂ > ♀- Most common primary bone malignancy- Increased incidence in patients with retinoblastoma and Li-Fraumeni syndrome Clinical features:- Frequently first manifests with pain (progressive, worsens at night and with activity); swelling after trauma to the bone (tissue mass that is tender to palpation and accompanied by erythema) - Limping and decreased range of motion- B symptoms Localization:- Primary tumor: metaphyses of long bones (particularly distal femur and proximal tibia)- Metastases: lungs, skeletal system, regional lymph nodes Diagnostics:- Conventional x-ray→ Signs of osteolysis adjacent to osteosclerosis (moth eaten appearance)→ Sunburst appearance of lytic bone lesions and/or codman triangles- MRI: assesses involvement of soft tissue, evaluation in cases of unclear radiographic findings- Biopsy: Woven bone matrix → distinction from chondrosarcomas and fibrosarcomas- Laboratory: ↑ alkaline phosphatase, ↑ LDH, ↑ ESR Treatment:- Surgery (definitive resection) with neoadjuvant and adjuvant polychemotherapy (e.g., combination of methotrexate, doxorubicin, cisplatin, and ifosfamide) - Histological examination of the resected bone to evaluate the effect of neoadjuvant chemotherapy (major prognostic factor) Prognosis: five-year survival rate of ∼ 70%
• Retinoblastoma Epidemiology:- Most common primary intraocular malignancy among children- Age of onset: < 3 years- ∼ 30% of children develop retinoblastomas in both eyes. Pathophysiology: The retinoblastoma gene (Rb) is a tumor suppressor gene found on chromosome 13.- Heritable retinoblastomas (autosomal dominant inheritance): → Tend to be bilateral→ A child born to a parent who has had a heritable retinoblastoma has a 50% chance of acquiring the mutated Rb allele!→ Patients with inherited Rb gene mutations also have a significantly higher risk of developing osteosarcomas and pinealomas!- Spontaneous mutation → Tend to be unilateral Clinical features:- Leukocoria (“cat's eye pupil”)- Strabismus- A painful, red eye- Loss of vision- Retinal detachment (later stages) Diagnostics:- Fundus examination: grayish white, vascularized retinal tumor- Ocular ultrasound- Contrast-enhanced MRI of the cranium Treatment:- If the eye is potentially salvageable→ Low-risk retinoblastomas: Cryotherapy; Photocoagulation; Brachytherapy→ High-risk retinoblastomas: Chemotherapy- If the eye is not salvageable (either anatomically or functionally)→ Enucleation→ Adjuvant systemic chemotherapy and/or adjuvant external beam radiotherapy- In the case of metastatic disease: high-dose chemotherapy ± radiotherapy
• Leukocoria - Differential diagnosis Definition: abnormal white reflection from the pupil (instead of the normal red-eye reflex) - Retinoblastoma- Cataract- Retinal detachment- Persistent hyperplastic primary vitreous- Retinal astrocytoma- Toxocariasis- Retinopathy of prematurity
• Posterior urethral valves Congenital malformation in males where membranous folds of the urogenital membrane obstruct the membranous and prostatic urethra. Epidemiology: incidence is about 1/8,000 live births Clinical features:- Most common cause of urinary tract obstruction in newborn males- Respiratory distress secondary to pulmonary hypoplasia- Abdominal distention due to bladder distention- If late presentation: Difficulty voiding, poor urinary stream- UTI → urosepsis- Diurnal enuresis- Failure to thrive Diagnostics:- Voiding cystourethrogram (VCUG): Dilation/elongation of posterior urethra while voiding- Prenatal ultrasound: Distended bladder, bilateral hydroureters, bilateral hydronephrosis marked vesicoureteral reflux with megaureter, and oligohydramnios → Potter sequence Treatment:- Temporary insertion of urinary catheter and correction of electrolyte imbalance- First-line: primary valve ablation during cystoscopy- Second-line: vesicostomy allows drainage of urinary tract in preterm boys or if ablation is not possible- Close follow-up given high risk of chronic kidney disease; renal transplantation may become necessary during the course of disease
• Hypospadias Common congenital malformation with incorrect positioning of the urethral meatus due to failure of urethral folds and foreskin to fuse on ventral penis. Etiology: - Genetic (e.g., disorders of sex development)- Endocrine (e.g., 5-alpha reductase deficiency)  Epidemiology: incidence is 1/250 male births Clinical features:- Abnormal foreskin (dorsal hood), ventral penile curvature, and two meatal openings- Proximal hypospadias are associated with bifid scrotum and penoscrotal transposition- Associated with inguinal hernias and cryptorchidism Diagnostics: Clinical Treatment:- Mild cases do not necessarily require surgery- Significant displacement or symptomatic micturition warrants surgical repair→ Urologic evaluation→ Reconstruction of urethra, penis, and scrotum at 6 months of age: urethroplasty and orthoplasty→ Severe cases require two-stage repair with correction of penile curvature first followed by urethroplasty at least 6 months later
• Epispadias Embryonic malformation due to malpositioning of the genital tubercle → causes incomplete urethral tubularization on the dorsal penis when associated with bladder exstrophy, although in an attenuated formMay also be due to chronic pressure, e.g., as a result of a transurethral indwelling catheter eroding the urethra. Epidemiology: incidence is about 1/200,000 live births (isolated hypospadias) Clinical features:- Cleavage and exposure of the urethra→ On the dorsal penis and associated with penile curvature→ Between labia and clitoris or up to bladder- Urinary incontinence Diagnostics: Clinical Treatment:- In young patients: operative closure with urethroplasty and reconstruction of genitalia if indicated- In patients with long-term indwelling catheters: insertion of a suprapubic indwelling catheter (reconstructive treatment is usually not necessary) Complications:- Erectile dysfunction and infertility in males- UTI
• X-linked (Bruton) agammaglobulinemia X-linked recessive disease that causes a complete deficiency of B lymphocytes Epidemiology: appears in boys only Etiology: Defect of Bruton's tyrosine kinase expressed in B cells → no B-cell maturation Clinical features:- Onset is > 4 months after birth (because transplacentally transferred maternal IgG is no longer active)- Absent/small tonsils and no palpable lymph nodes- Recurrent, severe pyogenic infections (e.g., pneumonia, otitis media); especially by encapsulated organisms (S. pneumoniae, N. meningitidis, and H. influenzae) Diagnosis: Flow cytometry showing absent or low B cells (marked by CD19, CD20, and CD21) and normal T cells Treatment:- IV immunoglobulins- Prophylactic antibiotics
• Common variable immunodeficiency Primary immunodeficiency with low serum levels of all immunoglobulin, despite phenotypically normal B cells Epidemiology:- Sex: ♀ = ♂- Onset: present later than other B cell defects (usually 20-35 years of age) Etiology: B cells that are phenotypically normal but unable to differentiate into Ig-producing cells Clinical features:- Recurrent pyogenic respiratory infections (e.g., sinopulmonary infections, rarely enteroviral meningitis)- Associated with a high risk of lymphoma, gastric cancer, and autoimmune disorders (e.g., rheumatoid arthritis, autoimmune hemolytic anemia, immune thrombocytopenia, vitiligo) Diagnosis:- Quantitative Ig levels: low levels of IgG, IgA, IgM- Flow cytometry shows normal B and T cell subsets- Poor response to immunizations Treatment:- Prophylactic antibiotics- Intravenous infusion of immunoglobulins
• Anzeige
• Selective IgA deficiency The most common primary immunodeficiency with near or total absence of serum and secretory IgA. Epidemiology: approx. 1/220 to 1/1000 Etiology: unknown Clinical features:- Often asymptomatic- May manifest with sinusitis or respiratory infections (S. pneumoniae, H. influenzae), chronic diarrhea (Giardia), steatorrhea- Associated with gluten-sensitive enteropathy, inflammatory bowel disease Diagnosis: serum IgA level < 7 mg/dL, with normal IgG and IgM levels Treatment:- Prophylactic antibiotics- Intravenous infusion of IgA is not recommended because of the risk of anaphylactic reactions (caused by the production of anti-IgA antibodies).   
• DiGeorge syndrome Defective development of the third and fourth pharyngeal pouches (leading to hypoplastic thymus and parathyroids), caused by genetic microdeletion. Etiology: microdeletion at chromosome 22 (22q11.2) Clinical presentation:- In most, initial presentation is neonatal hypocalcemic seizures.- Typical symptoms may be remembered with the acronym CATCH-22:Cardiac anomalies = congenital heart diseases: e.g., tetralogy of Fallot, persistent truncus arteriosus, ventricular septal defect (VSD), atrial septal defect (ASD)Anomalous face = dysmorphic facial features: prominent nasal bridge, hypoplastic wing of the nose, dysplasticears, micrognathiaThymus aplasia/hypoplasia: results in recurrent viral/fungal/PCP Pneumonia infections due to T-cell deficiencyCleft palateHypocalcemia due to hypoparathyroidism: leads to tetanyAffected chromosome = 22 Diagnosis:- Detection of 22q11 deletion via fluorescence in situ hybridization (FISH)- ↓ PTH and Ca2+- ↓ absolute T-lymphocyte count- Delayed hypersensitivity skin testing- CXR: absent thymic shadow Treatment:- Antibiotics, virostatics, and antimycotics- PCP prophylaxis- Consider bone marrow transplantation and IVIG- Possible thymus transplantation
• Hyper-IgM syndrome Group of syndromes characterized by a class-switching defect Epidemiology: CD40 ligand deficiency is the most common form Etiology: abnormal interaction between CD4 T cells and those expressing CD40 (x-linked recessive inheritance) Clinical presentation:- Recurrent sinopulmonary infections (commonly Pneumocystis and Histoplasma)- Cryptosporidium enteritis → biliary disease → cirrhosis, cholangiocarcinoma- CMV hepatitis- Failure to thrive Diagnosis:- ↓ IgG, IgA, IgE- Normal or ↑ IgM Treatment:- IV immunoglobulin therapy- Prophylactic antibiotics- Recombinant human granulocyte-colony stimulating factor administration- Stem cell transplantation may be curative.
• Prader-Willi syndrome Etiology:- Caused by microdeletion (at 15q11-q13) in combination with genomic imprinting- Deletion/mutation of paternal gene copy + maternal gene methylation (silencing) Clinical features:- Muscular hypotonia and poor feeding in infants- Hyperphagia and obesity- Short stature (caused by hypothalamic/pituitary growth hormone deficiency)- Cryptorchidism, hypogonadism, genital hypoplasia- Facial dysmorphia: Narrow forehead, almond-shaped eyes, downturned mouth- Premature adrenarche with early development of pubic/axillary hair- Developmental delays (e.g., delayed achievement of milestones)- Behavioral problems (e.g., temper tantrums, stubbornness, obsessive-compulsive behavior) Diagnosis: Fluorescence in situ hybridization (FISH) Treatment:- Calorie restriction- Substitution of growth hormone and sex hormones Complications:- Sleep apnea (70%)- Type 2 diabetes mellitus (25%)- Gastric distension/rupture- Death by choking (8%)
• Angelman syndrome Etiolgoy:- Caused by microdeletion (at 15q11-q13) in combination with genomic imprinting- Deletion/mutation of maternal gene copy + paternal gene methylation (silencing) - In ∼5% of cases: due to paternal uniparental disomy (e.g., both copies of chromosome 15 are inherited from the father) Clinical features:- Delayed mental development and acquisition of motor skills in infants and young children- In more than 80% of cases, pronounced epileptic seizures- Microcephaly- Ataxia, tremulous movements of the limbs- Truncal hypotonia, limb hypertonia, hyperreflexia- Difficulty sleeping- Intellectual disability- Characteristic happy demeanor with frequent laughing (inappropriate laughter)- Hyperexcitability, short attention span- Fascination with water Treatment:- No specific treatment- Physical, occupational, and speech therapy- Antiepileptic drugs (if applicable) Prognosis: Life expectancy is typically normal.
• Malignant otitis externa (necrotizing otitis externa) Necrotizing inflammation of the external auditory canal Pathogen: Pseudomonas aeruginosa (95% of cases) Risk factors:- Elderly patients with poorly controlled diabetes- Immunosuppression Clinical features:- Severe ear pain- Red and swollen periauricular soft tissue- Otorrhea- Conductive hearing loss- Otoscopic findings: granulation tissue at the transition between the cartilaginous and the osseous part of the earcanal Complications: - Facial nerve palsy- Osteomyelitis of the skull base → extradural abscess, venous sinus thrombosis, paralysis of other cranial nerves Diagnostics- CT scan to identify bone destruction- MRI to identify intracranial extension (e.g., venous sinus thrombosis, cranial abscess)- Gallium-67 scan in order to monitor response to treatment- Biopsy: distinguishes malignant otitis externa from a tumor and helps optimize treatment Treatment- Prompt IV antibiotic therapy for several weeks- First-line: high-dose ciprofloxacin- Second-line: other antipseudomonal antibiotics (e.g., piperacillin-tazobactam, ticarcillin, cefepime, ceftazidime)- Surgical debridement is indicated for abscess drainage and removal of bony sequestrum
• Intellectual disability Characteristic impairments that affect one or more adaptive domains (conceptual, social, or practical), and categorizes levels of severity within a range of mild to profound. None: IQ > 70 Mild: IQ range of 50-69→ Relative age: 10 (6th grade)→ Works, ADLs Moderate: IQ range of 35-49→ Relative age: 6 (3rd grade)→ ADLs Severe: IQ range of 20-34→ Relative age: 3 Profound: IQ range <20→ Relative age: 1→ Total care
• Caustic ingestion Clinical features:- Laryngeal damage: Hoarseness, stridor- Esophageal damage: Dysphagia, odynophagia- Gastric damage: Epigastric pain, bleeding Management:- Secure airway, breathing, circulation- Decontamination: Remove contraminated clothing & visible chemicals; irrigate exposed skin- Chest x-ray if respiratory symptoms- Endoscopy within 24 hours Complications:- Upper airway compromise- Perforation- Strictures/stenosis (2-3 weeks)- Ulcers- Cancer
• Growing pains Clinical features:- Occurs primarily at night & resolves by morning- Affects lower extremities (eg, thighs, calves), usually bilateral- Normal physical examination & activity Treatment:- Parental education & reassurance- Massage, stretching exercises, heat & anaglesics
• Acute iron poisoning Clinical features:- Abdominal pain, hematemesis, diarrhea- Shock- Liver necrosis Diagnostics:- Anion gab metabolic acidosis- Elevated serum iron- Radiopaque pills on abdominal x-ray Treatment:- Deferoxamine- Whole bowel irrigation
• Cephalohematoma Subperiostal hemorrhage that occurs in neonates due to birth trauma, particularly with forceps or vacuum-assisted deliveries. The bleeding is limited to the surface of 1 cranial bone and appears as a scalp swelling with the following features:- Firm- Nontender- Does not cross suture lines- No skin discoloration The swelling is often not visible until several hours after birth.Blood breakdown makes newborn at increased risk for hyperbilirubinemia. Differential diagnosis: - Caput succedaneum = Scalp swelling superficial to the periosteum that crosses suture lines. Typically identified at birth.
• Pediatric constipation Risk factors:- Initiation of solid food & cow's milk- Toilet training- School entry Clinical features:- Painful/hard bowel movements- Stool withholding- Encopresis Complications:- Anal fissures- Hemorrhoids- Enuresis/UTIs Treatment:- Children < 6 months without alarming features: Reassess in 2-4 weeks- Children > 6 months: Laxatives (polyethylene glycol)- ↑ Dietary fiber & water intake- Limit cow's milk intake to < 24 oz- ± Suppositories, enema- Maintenance therapy: laxative therapy (polyethylene glycol or lactulose) until constipation is resolved for at least 1 month (treatment should then be tapered gradually)
• Acute bacterial rhinosinusitis Pathogens:- Nontypeable H. influenzae (~ 40-50%)- Streptococcus pneumoniae (~ 20-25%)- Moraxella catarrhalis (~ 25%) Clincial features:- Cough, nasal discharge- Fever- Face pain/headache Diagnostic criteria (1 of 3)1. Persistent symptoms ≥ 10 days without improvement2. Severe onset (fever >39 °C + drainage) ≥ 3 days3. Worsening symptoms following initial improvement Treatment: Amoxicillin ± clavulanate
• Iron deficiency anemia in young children Risk factors:- Prematurity- Lead exposure- Age < 1→ Delayed introduction of solids (ie, exclusive breastfeeding after 6 months)→ Cow's, soy, or goat's milk- Age > 1→ > 24 oz/day cow's milk→ < 3 servings/day iron-rich foods Diagnosis:- Screening hemoglobin at age 1- Hemoglobin < 11 g/dL, ↓ MCV, ↑ RDW Treatment: Empiric trial of iron supplementation
• Rett syndrome Neurodevelopmental disorder that occurs mainly in girls due to mutations in the X-linked MECP2 gene. Clinical features:- Normal development and then onset between 6-18 months of age- Regression of speech- Loss of purposeful hand movements (eg, inability to feed or dress oneself)- Gait abnormalities- Stereotypical hand movements
• Gonococcal conjunctivitis Clinical presentation: Copious exudate & eyelid swelling typically at age 2-5 days Diagnosis:- Gram stain with gram-negative intracellular diplococci- Positive culture on modified Thayer-Martin media Treatment: One dose of intramuscular ceftriaxone or cefotaxime Prevention: Erythromycin ointment
• Differential diagnosis of marfanoid body habitus Overlapping features:- Pectus deformity- Tall stature- ↑ Arm:height ratio- ↓ Upper:lower segment ratio- Arachnodactyly- Joint hyperlaxity- Skin hyperelasticity- Scoliosis Marfan syndrome:- Autosomal dominant- Normal intellect- Aortic root dilation- Upward lens dislocation Homocytinuria:- Autosomal recessive- Intellectual disability- Thombosis- Downward lens dislocation- Megaloblastic anemia- Fair complexion
• Neonatal abstinence syndrome Maternal drug abuse during pregnancy with subsequent withdrawal reaction in the infant. Withdrawal usually presents within 48 hours after birth for heroin withdrawal and at 48-72 hours for methadone withdrawal, although it can be delayed up to 4 weeks. Clinical features:- High-pitched cry, irritability- Disturbance of sleep-wake rhythm- Muscle tone and movement disorders- Seizures- Poor feeding, vomiting, diarrhea, failure to thrive- Tachypnea, apnea, sneezing- Fever and sweating- Hypertension, tachycardia Treatment:- Swaddling- Fluid resuscitation- Reduced sensory stimulation (eg, quiet room, no sudden movements)- Pharmacological: PO morphine
• Cyclic vomiting syndrome Recurrent attacks of severe vomiting with a typical pattern and no evidence of anatomical anomalies. History:- Personal or family history of migraines- Episodes often have identifiable trigger (eg, infection, stress) Clinical features:- Acute onset of nausea, abdominal pain, headache, vomiting- Self-limited, lasting 1-2 days- Between episodes usually asymptomatic- Often regular intervals (eg, 2-4 weeks)
• Reye syndrome Rare disease in patients < 19 years who have been treated with aspirin. Etiology: Pediatric aspirin use during influenza or varicella infection Clinical features:- Acute liver failure- Encephalopathy Diagnosis: Clinical- Laboratory findings: ↑ AST, ALT, PT, INR, PTT, NH3- Elevated intracranial pressure- Liver biopsy: Microvesicular hepatic steatosis Treatment: Supportive
• Anzeige
• Congenital umbillical hernia Incomplete closure of abdominal muscles Clinical features:- Soft, nontender bulge at umbilicus- Protrudes with increased abdominal pressure- Typically reducible Treatment:- Observe for spontaneous closure- Elective surgery around age 5
• Dehydration Mild dehydration (3-5% volume loss): Minimal or no clinical symptoms Moderate dehydration (6-9% volume loss): Decreased skin turgor, dry mucus membranes, tachycardia, irritability, delayed capillary refill (2-3 seconds), decreased urine output Severe dehydration (10-15% volume loss): Cool, clammy skin, delayed capillary refill (> 3 seconds), cracked lips, dry mucous membranes, sunken eyes, sunken fontanelle, tachycardia, lethargy, minimal or no urine output Mild/moderate dehydration → oral rehydration therapyModerate/severe dehydration → resuscitation with intravenous fluids Fluid = Isotonic crystalloid 
• Neonatal thyrotoxicosis Pathophysiology:- Transplacental passage of maternal anti-TSH receptor antibodies- Antibodies bind to infants TSH receptors and cause excessive thyroid hormone release Clinical features:- Warm, moist skin- Tachycardia- Poor feeding, irritability, poor weight gain- Low birth weight or preterm birth Diagnosis: Maternal anti-TSH receptor antibodies > 500% normal Treatment:- Self-resolves within 3 months (disappearance of maternal antibody)- Methimazole + β-blocker
• Evaluation of neonatal hydration Signs of dehydration:- Decreased wet diapers- Absence of tears- Sunken fontanelle- Dry mucous membranes- Decreased skin turgor- Delayed capillary refill Management of weight loss:< 7%:- Continue exclusive breastfeeding- Follow-up at age 10-14 days to check that infant has regained birth weight> 7%:- Assess for oromotor dysfunction- Assess for lactation failure- Daily weights- Consider formula supplementation
• Neonatal herpes simplex virus infection Pathogenesis: Vertical transmission- Intrauterine, perinatal, postnatal Clinical features:- Skin-eye-mouth: Mucucutaneous vesicles, keratoconjunctivitis- CNS: Seizures, fever, lethargy, temperal lobe hemorrhage/edema- Sepsis- Hepatitis- Pneumonia Diagnosis:- Viral surface cultures- HSV PCR (blood, cerebrospinal fluid) Treatment: Acyclovir
• Food protein-induced allergic proctocolitis Risk factors:- Family history of allergies, eczema, or asthma Epidemiology:- Affects primarily young infants; typically manifests at 2-8 weeks of age Clinical features:- Feeding intolerance, vomiting, failure to thrive- Painless, bloody stools- ± Spit-upCross-reactivity with soy Treatment:- Elimination of milk & soy from maternal diet in breastfed infants until 2-3 years of age- Hydrolyzed formula in formula-fed infants Prognosis: Spontaneous resolution by 1 year
• Breath-holding spells Benign condition- Occurs in children aged 6 months-6 years- Strongly associated with iron deficiciency anemia Clinical features:- Episodes of prolonged expiratory apnea- Followed by loss of consciousness (syncope)- Transient paroxysms of cyanosis or pallor- Possibly generalized stiffness and jerky movement of the limbs  Treatment: Reassurance
• Congenital Zika syndrome Pathogenesis:- Single-stranded RNA Flavivirus- Transplacental transmission to fetus- Targets neural progenitor cells Clinical features:- Microcephaly, craniofacial disproportion- Neurologic abnormalities (eg, spasticity, seizures)- Ocular abnormalities Diagnosis:- Neuroimaging: Calcifications, ventriculomegaly, cortical thinning- Zika RNA detection
• Cerebral palsy Risk factors:- Prematurity- Low birth weight- TORCH infection- Perinatal asphyxia Clinical features:- Delayed motor milestones- Abnormal tone, hyperreflexia- Comorbid seizures, intellectual disability Diagnostic workup:- MRI of the brain ± Electroencephalography± Genetic/metabolic testing Management:- Physical, occupational, speech therapies- Nutritional support- Antispastic medications
• Acute cervical adenitis in children Unilateral:- Staphylococcus aureus, Streptococcus pyogenes → Pronounced erythema, tenderness- Anaerobic bacteria (eg, Prevotella buccae) → Dental caries, periodontal disease- Bartonella henselae → Papular nodular at site of cate scratch or bite- Mycobacterium avium → Gradual onset, nontender Bilateral:- Adenovirus → Pharyngoconjunctivitis- EBV/CMV → Mononucleosis
• Glycogen storage diseases Von Gierke (Type I):- Deficient enzyme: Glucose-6-phosphatase- Severe fasting hypoglycemia, ↑↑ glycogen in liver and kidneys, ↑ blood lactate, ↑ triglycerides, ↑ uric acid (gout), and hepatomegaly, renomegaly. Liver does not regulate blood glucose.- Doll-like face with rounded cheeks, thin extremities, short stature- Treatment: frequent oral glucose/cornstarch; avoidance of fructose and galactose Pompe (Type II)- Deficient enzyme: Lysosomal acid α-1,4-glucosidase with α-1,6-glucosidase activity (acid maltase)- Cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, macroglossia, early death Cori (Type III)- Deficient enzyme: Debranching enzyme (α-1,6-glucosidase)- Generalized muscle weakness and/or cramps, hepatomegaly, possibly cirrhosis (ascites, splenomegaly), mild, fasting hypoglycemia and ketosis, hyperlipidemia- Milder form of von Gierke with normal blood lactate levels. Accumulation of limit dextrin-like structures in cytosol. McArdle (Type IV)- Deficient enzyme: Skeletal muscle glycogen phosphorylase (myophosphorylase)- ↑ glycogen in muscle, but muscle cannot break it down → painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, and arrhythmia from electrolyte abnormalities. Second-wind phenomenon noted during exercise due to ↑ muscular blood flow. - Hallmark is a flat venous lactate curve with normal rise in ammonia levels during exercise
• Acute rhinosinusitis in children Clinical features:- Nasal congestion and/or purulent drainage- Facial pressure/pain- ± Fever, cough, headache, loss of smell, ear pain Etiology:- Viral: → No fever or early resolution of fever→ Mild symptoms (eg, well-appearing, mild facial pain)→ Improvement & resolution by day 5-10- Bacterial:→ Fever ≥ 3 days OR→ New/recurrent fever after initial improvement OR→ Persistent symptoms ≥ 10 days Treatment:- Intranasal saline, saline irrigation, NSAIDs- Antibiotics if bacterial
• Rumination disorder Regurgitation of food for ≥ 1 month. Epidemiology: Mostly infants with developmental problems Related to overfeeding and the inability to cope with the sensation of fullness.
• Nonaccidental trauma Risk factors:- Unstable family situation- Vague history- Injury inconsistent with developmental stage Clinical features:- Bruises/fractures at various stages of healing- Femur fracture in nonambulatory infant- Posterior rib fractures- Metaphyseal corner fractures- Retinal & subdural hemorrhages Management:- Skeletal survey- CT scan of the head- Funduscopic examination
• Neonatal hypoglycemia Generally defined as blood sugar levels <40 mg/dL or <50 mg/dL in the first 24 hours after birth. Etiology: - Persistent hyperinsulinemic hypoglycemia (e.g., due to gestational diabetes)- Prematurity- Sepsis Clinical features:- May be asymptomatic or present with autonomic (e.g., tachycardia, sweating, tremors) and neurological symptoms (e.g., hypotonia, lethargy, seizures). Treatment:- Asymptomatic: Oral feeds- Symptomatic: 2mL/kg of D10W and recheck
• Annular pancreas A ring surrounding the duodenum is formed because of fusion and incomplete rotation of the pancreatic buds during foregut rotation → causes constriction of the duodenum Epidemiology:- Associated with Down syndrome Clinical features:- Antenatal: polyhydramnios- Postnatal: feeding difficulties, (non)bilious vomiting, abdominal distention- Adults: abdominal postprandial distention, epigastric pain, nonbilious vomiting Imaging findings: double bubble sign on x-ray (if duodenal stenosis is present) Treatment: As in duodenal atresia- Parenteral nutrition via a central catheter shortly after birth- Fluid replacement and restoration of the electrolyte balance- Gastric decompression- Surgery: bypass the atresia or stenosis
• Intestinal atresia Etiology: Cocaine and/or tobacco use during pregnancy Pathophysiology: Vascular accidents in utero Diagnostics: X-Ray- Double-bubble and multiple air fluid levels Treatment: Surgical
• Car safet Rear-facing car seats day 0-2 years Booster seat until 4’9” and 8-12 years old
• Drowning - Limit access with gates, fences, and locked doors.- Provide supervision constantly (parental, life guard, etc.)- Use of flotation devices while in lakes, ponds, pools, etc. Arm floaties are BAD, life jackets are GOOD. Drowining in cold fresh water has the best prognosis. Fresh and saltwater drowning cause pulmonary edema. Complications:- Acute respiratory distress syndrome- Cerebral edema- Arrhythmia Poor prognostic indicators:- Submersion time > 5 min- Delay in initiation of CPR- Prolonged resuscitative efforts- Age > 14- Arterial blood pH < 7.1
• Parkland formula In adults: Parkland formula is used to guide initial fluid therapy: the volume of lactated Ringer's solution to be administered within a period of 24 h = 4 mL x % of total body surface involved in burn x body weight (in kg) In children: initial fluid therapy for a 24 hour period is the Parkland formula + 24 h maintenance fluid requirements 50% in first 8 hours50% in next 16 hours

zurück  |  weiter 3 / 4