Missed QBank questions Flashcards
Werdnig-Hoffman syndrome
AR disorder that involves degeneration of the anterior horn cells and CN motor nuclei
Causes floppy baby syndrome
Congenital hypothyroidism
Can be familial or sporadic
Most common cause: thyroid dysgenesis (aplasia, hypoplasia, or ectopic gland)
-other causes: inborn errors of thyroxin synthesis, transplacental maternal thyrotropin receptor blocking antibodies
Hx/PE:
- initially appear normal
- develop apathy, weakness, hypotonia, large tongue, sluggish movements, abdominal bloating, and umbilical hernia
- other signs: pathologic jaundice, difficult breathing, noisy respiration, hypothermia, refractory microcytic anemia
- screening: T4 and TSH levels
Myotonic congenital myopathy
AD disorder: muscle weakness and atrophy in the distal muscles of the UE and LE, myotonia, testicular atrophy, baldness
Anemia of prematurity
Seen in hospitalized, premature or LBW infants
Causes: transitions in the erythropoiesis sites of the neonate, shorter life span of RBCs in neonates, and diminished fetoplacental transfusion
Sx: poor weight gain, poor feeding, lethargy, tachypnea, tachycardia, pallor
Labs: normocytic, normochromic anemia; low reticulocyte count; normal WBC and platelet count; normal bilirubin levels
Tx: Fe supplementation, periodic Hgb checking and blood transfusion
Initial presentation of sickle cell disease
Normally doesn’t present in the firs 4-6 months of life due to the presence of Hemoglobin F; first sign may be dactylitis
Cervical LAD in children
Very common
Lymphadenitis: LN becomes tender and erythematous
Ddx: acute vs subacute/chronic, unilateral vs bilateral and look at other sx
Acute, unilateral:
- bacterial infection, usually S aureus; next most common: GAS
- tender, warm, erythematous LN, 3-6cm in size
Peptostreptococcus
Anaerobic bacteria that can cause acute, unilateral lymphadenitis
Usually presents in older children w/ peridontal disease
Cystic fibrosis presentation in childhood
Anemia, heat intolerance, steatorrhea, wheezing, recurrent infections, hemoptysis, clubbing, rectal prolapse
Epiglottitis
Main cause: HiB
Presentation: abrupt onset of fever, sore throat, dysphagia, drooling
-airway obstruction is most worrisome potential complication
-impending airway obstruction: restlessness, anxiety, impaired inspiration, muffled hot-potato voice
-keeping the neck hyperextended has been shown to help
Tracheoesophageal fistula
Atretic esophageal pouch that communicates with the trachea
Drooling or regurgitation during feeding
Gastric fluid also enters the lungs leading to pneumonitis and atelectasis
-rattling can be heard during breathing
Congenital diaphragmatic hernia
Cyanosis and respiratory distress minutes or hours after birth
Vascular ring anomaly
Noisy breathing in first few weeks of life
Esophageal sx: choking vomiting, or dysphagia occur in OLDER INFANTS AND CHILDREN, not in young infants
2/2 an aortic arch and its branches completely encircling the trachea and esophagus
Choking, regurgitating, coughing during the first feeding
Esophageal artresia
NOT DUODENAL ARTRESIA, UNILATERAL CHOANAL ARTRESIA, OR VASCULAR RING
Caput succedaneum
Diffuse, sometimes ecchymotic swelling of the scalp
Usually involves the portion of the head presenting during vertex delivery
May extend across the midline and suture lines (UNLIKE CEPHALOHEMATOMA)
Cranial meningoecele
Presence of pulsations, increased pressure upon crying, and roentgenographic evidence of bony defects
