URx 2 Flashcards
Newborn babies with pyloric stenosis classically present between _____ duration after birth with ____ s/s.
between 2 and 8 weeks of age;
p/w increasingly frequent episodes of regurgitation -> nonbilious projectile vomiting, and a palpable olive-shaped mass in the epigastric region.
Coughing, choking, regurgitation or vomiting, and gastric distention after every feed in a newborn baby may indicate ____.
Tracheoesophageal fistula with esophageal atresia.
What disorders may be considered in a newborn who has difficulty feeding and regurgitates meals after every feed?
- TE fistula with esophageal atresia: coughing and choking present.
- Malrotation with volvulus: bilious vomiting, resistance to feeding, irritable, and sick-looking.
- GERD: non-bilious regurgitation or vomiting after meals, baby may keep their head on one-side and chin elevated.
- Pyloric stenosis: presents between 2-8 weeks with non-bilious projectile vomiting, and a palpable olive-shaped mass in the epigastric region.
_____ anemia is an autosomal recessive disorder in which cells cannot properly repair DNA cross-links causing initial ___ and ___, which ultimately progresses to ____ and _____.
Fanconi anemia;
causing initial leukopenia and thrombocytopenia - -> pancytopenia and bone marrow failure.
Bone marrow biopsy in Fanconi anemia shows _____.
fatty infiltration.
Approx. 75% of patients with Fanconi anemia have associated congenital abnormalities such as ____ (list most).
- Upper limb: absent, bifid, super-numerary, short/hypoplastic thumb, absent or hypoplastic radii, dysplastic ulna.
- Lower limb: polydactyly, short toes, club foot, flat feet, hip dislocation, abnormal femur, thigh osteoma.
- Other: head/face anomalies, microcephaly, hydrocephaly.
- Hypogonadism: hypo-development, undescended/absent testis, phimosis, hypospadias.
- Other: abnormal epi-canthal folds, proptosis, ptosis, cataracts, blindness, epiphora, absent eardrums, small/large pinnae, and atresia of the ear canal.
- GI (less common): imperforate anus, TE fistula, intestinal atresia, Meckel diverticulum, megacolon, hepatocellular adenoma, and umbilical hernia.
- Cardiac effects include VSDs.
Ammonia is a potent ____ that can lead to life-threatening complications such as ___ and ___.
neurotoxin
-> cerebral edema and brain herniation.
Ammonia is normally produced in _____ organs, from where it is transported to the ____ to be converted to urea (via the urea cycle) for excretion by the kidneys.
produced in the
-colon (bacterial metabolism of protein and urea),
-small intestine (bacterial degradation of glutamate), and
-skeletal muscle (amino acid transamination and the purine-nucleotide cycle).
transported to the liver for conversion to urea (water soluble) ->
excreted by the kidneys.
List the pathophysiologic mechanisms underlying hyperammonemia.
Congenital (enzyme deficiencies):
-Urea cycle defects,
-Organic acidemias,
-Congenital lactic acidosis,
-Fatty acid oxidation defect, and
-Dibasic amino acid deficiencies.
Acquired Disorders:
-Hepatic: liver disease or cirrhosis c/by toxins, infections etc.
-Non-Hepatic: portal blood directed to the systemic circulation, bypassing the liver, or increased production of ammonia d/t infection with certain microorganisms.
How is hyperammonemia d/t urea cycle enzyme deficiencies distinguishable from hyperammonemia d/t other non-urea cycle enzyme deficiencies (e.g. organic acidemias, congenital lactic acidosis, fatty acid oxidation defect, and dibasic amino acid deficiencies)?
Urea cycle enzyme deficiencies: hyperammonemia with normal lactate and blood glucose levels;
versus
-Hyperammonemia + Ketosis and Lactic acidosis in organic acidemias (e.g. isovaleric acidemia),
-Hyperammonemia + elevated pyruvate and lactate in congenital lactic acidosis, and
-Hyperammonemia + Hypoglycemia in acyl CoA dehydrogenase deficiency.
____is the most common urea cycle enzyme deficiency leading to hyperammonemia in the immediate neonatal period?
Ornithine transcarbamylase (OTC) deficiency (see attached image for details).
*the only X-linked recessive urea cycle enzyme deficiency.
The higher serum ammonia levels in pre-term infants must reach the healthy term levels in approx. ____ days after birth.
in ~ 7 days of birth;
normal ammonia levels in preterm infants range from 71±26 μmol/L;
levels in a healthy term infant range from 45±9 μmol/L; 80 to 90 μmol/L is considered to be the upper limit of normal.
Normal levels in adults < 30 μmol/L.
Ash-leaf spots and seizures in a patient with a h/o developmental delay and seizure disorders indicate _____.
Tuberous sclerosis.
In patients with tuberous sclerosis, skin lesions may be detected in about ____ % of patients of all ages, the most common being ______ followed by other lesions such as ____ (list all).
90% of patients;
most common (see attached images): hypopigmented macules (ash-leaf spots) usually found in early childhood f/by
-Ungual fibromas appear near puberty,
-facial angiofibromas are more common in adolescence.
-shagreen patches: areas of thicker skin as a leathery lesion with a pebbly texture.
IMAGE SOURCE: www.dermnetnz.org
Tuberous sclerosis complex (TSC) arises from mutations in the _____ genes encoding for ____ proteins.
TSC1 and TSC2 genes, encoding hamartin and tuberin, respectively.
Note: hamartin and tuberin proteins regulate cell division and growth in the body -> hence, the disease presents with the development of hamartomas and tubers throughout the body -> p/w seizures, angio-fibromas (esp. face), renal angiomyolipomas and cysts, cardiac rhabdomyomas, pulmonary cysts and lymphangio-leio-myomatosis.
The TSC 1/2 mutations in patients with Tuberous Sclerosis most commonly develop sporadically; however, once develop, are transmitted in an autosomal ____ pattern.
autosomal dominant
In addition to the classic skin lesions, ____ may be the most common presentation in early childhood or infancy in patients with tuberous sclerosis complex.
seizures.
Source: https://www.ncbi.nlm.nih.gov/books/NBK538492/
List the diagnostic criteria of tuberous sclerosis.
Definitive diagnosis requires
-2 major features, or
-1 major feature + at least 2 minor features.
Possible diagnosis: in patients with 1 major feature OR at least 2 minor features.
Major Features:
- Hypomelanotic macules (>2, & at least 5 mm in diameter).
- Angiofibromas (> 2)/fibrous cephalic plaque.
- Ungual fibromas (> 1)
- Shagreen (leathery) patch
- Multiple retinal hamartomas
- Cortical dysplasias
- Subependymal nodules
- Subependymal giant cell astrocytoma (SEGA)
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis
- Angiomyolipomas (> 1)
Minor Features
- Confetti skin lesions
- Dental enamel pits (> 3)
- Intraoral fibromas (> 1)
- Retinal achromic patch
- Multiple renal cysts
- Nonrenal hamartomas
Approximately ___ % of patients with tuberous sclerosis will develop renal angiomyolipomas;
Other renal lesions include ____.
~ 55% to 75%.
other common renal lesions include
-PKD, renal cysts, and
-renal cell carcinomas (RCC); in 1-2% of cases with renal angiolipoma.
*lifetime risk of RCC ~ general population but usually present at a younger age.
True/False?
Renal angiomyolipomas in patients with tuberous sclerosis are mostly asymptomatic but a/w a risk of rupture and bleeding; hence, surgery is indicated for larger lesions that carry a higher risk of bleeding.
true
CNS manifestations are common in patients with tuberous sclerosis complex (TSC) and include the development of ____ lesions.
-subependymal nodules,
-cortical or subcortical tubers, and
-Subependymal giant cell astrocytoma (SEGA) presents in ~ 10-15% of patients in late childhood.
complications:
-obstructive hydrocephalus
-seizures, often refractory to medical treatment.
Lymphangiomyomatosis in patients with tuberous sclerosis is characteristically marked by smooth muscle proliferation and cystic changes in ____ organ.
extensive proliferation of smooth muscle cells and cystic changes within the lung parenchyma.
The differential diagnoses to consider in a tuberous sclerosis complex (TSC) patient include _____ syndrome, which is also a/w seizure disorders and developmental delay.
Sturge-Weber syndrome; a/w seizure disorders and developmental delay as in TSC;
distinguishing features include
-NO ash-leaf spots
-Port-wine stains on the face esp. upper eyelid and forehead.
____ is the third most common neurocutaneous syndrome, after neurofibromatosis and tuberous sclerosis.
Sturge-Weber syndrome aka encephalotrigeminal angiomatosis, a neurocutaneous disorder characterized by angiomas involving the face (presents as a port-wine stain or nevus flammeus), choroid, and leptomeninges.
Optic nerve glioma is most commonly seen in children under 6 years of age with _____, the most common neurocutaneous syndrome.
Neurofibromatosis type 1 (NF1)
Hookworm larvae (Ancyclostoma, Necator) penetrate the skin from soil contaminated with dog/cat feces initially causing self-limiting ____ skin followed rarely by deep tissue penetration leading to _____ disorder (s).
Cutaneous larva migrans (CLM) aka creeping eruption;
larvae penetrate deeper tissues causing pneumonitis (Löffler syndrome) or eosinophilic enteritis.
How do the cutaneous burrows in scabies differ from the ones in cutaneous larva migrans (CLM)?
The characteristic cutaneous burrows in scabies are
-intensely pruritic, short, non-advancing, wavy, scaly, gray lines on the skin plus papules & vesicles,
-found anywhere but esp. on fingers, wrists, arms, legs, and belt area,
-might be silver with a black dot at one end visible under a magnifying glass.
Secondary lesions: c/by scratching and rubbing the rash and include crusty sores, hives, tiny bites, knots under the skin, pimples, or scaly patches that look like eczema.
Burrows in CLM are longer with e/o advancement (as larvae migrate at the speed of 2mm/day), mostly on foot at the point of entry of the larva/larvae.
A newborn baby girl born at home with ambiguous genitalia is brought for a check-up for small palpable masses in the inguinal area on both sides. Her vital signs are normal, has 46XY karyotype, testosterone is elevated, dihydro-testosterone (DHT) is low, and her electrolytes, adrenal hormones and gonadotropins (LH, FSH) are all normal. What is the most likely enzyme deficiency affecting her state?
Autosomal recessive deficiency of 5α-Reductase (5-ARD)
-> DHT not produced/low -> lack of sexual development of male (46XY) fetuses -> ambiguous genitalia (may be assigned female sex at birth).
-Vitals normal as the adrenal cortical hormones are intact.
LAB: normal/elevated testosterone, low DHT, normal electrolytes, normal 17-hydroxyprogesterone, DHEA, 11-deoxycortisol, deoxycorticosterone, and normal LH and FSH.
After the resolution of an acute UTI in a child less than 2 years of age who also presents with an abnormal renal USG, ______ test is indicated to assess the presence of vesicoureteral reflux.
voiding cystourethrogram.
Vesicoureteral reflux is a common congenital genitourinary malformation, found in about _____% of young children with a febrile UTI.
30% to 45%
_____ is the most common pediatric intraocular malignancy of neuro-endocrine origin arising from the immature retinal cells, with a peak incidence in young childhood (age <5 years).
Retinoblastoma
The peak incidence of retinoblastoma is in ___ age groups.
children < 5 years of age
Flexner-Wintersteiner rosettes and Homer Wright pseudorosettes on HPE are classic findings in ____ intra-ocular malignancy.
retinoblastoma
True/False?
As opposed to the normal fundus reflex, previously known as the “red reflex”, a child with retinoblastoma will p/w the characteristic white pupil aka leukocoria when light is shown in the eyes.
true (see attached image).
NOTE: the fundus reflex color in a healthy individual is based on their skin color as described below:
-Red/Orange reflex in people with lighter-pigmented skin.
-Orange/yellow in Asians/people with moderately pigmented skin.
-Darker colors/green/blue: in people with darker skin.
Image Source: https://www.researchgate.net/figure/Abnormal-red-reflex-information
List the causes of leukocoria.
-Retinoblastoma
-congenital corneal opacities,
-congenital cataracts,
-persistent fetal vasculature,
-retinopathy of prematurity,
-Coats disease, and
-congenital toxoplasmosis.
Children diagnosed with retinoblastoma are at increased risk of developing _____ malignancy later in life d/t _____.
Osteosarcoma d/t the underlying inactivating point mutations of the RB tumor-suppressor gene (on chromosome 13) -> uncontrolled division and growth of cells d/t loss of inhibitory control over the E2F transcription factors.
What factors may guide or indicate escalated care such as hospitalization in patients with bronchiolitis?
-toxic appearance;
-lethargy; poor feeding
-O2 saturation lower than 92%;
-tachypnea > 70/min,
-s/of respiratory distress, such as nasal flaring, intercostal retraction, or cyanosis
-apnea/respiratory failure
-dehydration
The diagnostic criteria for Kawasaki Disease (KD) include ____ clinical features.
-Fever for a minimum of 5 days,
+
at least 4 of the following 5 signs:
1. bilateral non-purulent conjunctivitis;
2. a polymorphous non-vesicular rash (primarily truncal);
3. Cervical lymphadenopathy with one node that is >1.5 cm
4. Edema and erythema of palms and soles, and/or desquamation of fingers and toes, and
5. Mucosal involvement (eg, injected or fissured lips, injected oropharynx, strawberry tongue).
True/False?
Atypical (or incomplete) Kawasaki Disease (KD) has at least 5 days of fever but fewer than four signs of mucocutaneous inflammation.
true;
NOTE: s/o mucocutaneous inflammation in KD include
1. bilateral nonpurulent conjunctivitis;
2. a polymorphous nonvesicular rash (primarily truncal);
3. Edema and erythema of palms and soles, and/or desquamation of fingers and toes, and
4. Mucosal involvement (eg, injected or fissured lips, injected oropharynx, strawberry tongue).
_____ and ____ is the first-line treatment aimed at preventing the complications of vasculitis in patients with Kawasaki Disease (KD).
IVIG and Aspirin
When is treatment with prednisone indicated in the m/m of Kawasaki Disease (KD) with first-line agents being IVIG and Aspirin?
In patients scoring > 3 points based on the scoring algorithm outlined below:
-Enlarged coronary arteries on echocardiogram = 2 points
-Age of onset of fever at < 6 months = 1 point
-Asian race = 1 point
-CRP higher than 13 mg/dL = 1 point
Long-term cardiovascular complications in Kawasaki Disease (KD) include _____ conditions.
-Accelerated atherosclerosis,
-Myocardial ischemia, and
-Arrythmia.
____ is the copper chelator used as the primary treatment in patients with Wilson disease.
D-penicillamine.
Koplik spots which are tiny blue-white papules surrounded by a ring of erythema in the buccal mucosa (adjacent to the molar teeth) in a patient with measles (Rubeola) appear about ____ (time) before the exanthem begins and disappear within ____ timeline.
appear 48 hours before the exanthem begins and disappear within 3 days.
NOTE: exanthem in measles begins 2-4 days after an initial prodrome of 3Cs (cough, coryza, and conjunctivitis); measles exanthem is a macular & papular eruption that begins behind the ears and spreads to the face and rest of the body.
_____ is an XL recessive syndrome (boys) characterized by recurrent opportunistic infections, thrombocytopenia, and atopic dermatitis.
Wiskott-Aldrich syndrome (WAS)
Patients with WAS are at increased risk for malignancies especially ____.
EBV-associated B-cell lymphoma.
_____ syndrome, a genetic neurodegenerative disease found exclusively in females (as male fetuses die in-utero) should be highly suspected in a female infant who regresses after a period of normal development.
Rett Syndrome
Infants (female) with Rett syndrome start showing signs of regression most commonly in ____ and ____ milestones between 6 and 18 months of age.
language and coordination;
between 6 - 18 months of age.
A newborn baby is born with a rash involving several pustules on a non-erythematous base and some hyperpigmented macules with a surrounding rim of scale. On CE, vital signs are normal. What is the most likely diagnosis?
Transient neonatal pustular melanosis (TNPM) (see attached image)
Note:
-Lesions are mostly concentrated on the forehead, chin, neck, lower back, and shins; may be widespread.
-Pustules resolve in 24-48 hours after birth but hyperpigmented macules fade in several weeks to months.
How is Transient neonatal pustular melanosis (TNPM) distinguishable from other conditions that also present with rash at birth or immediately thereafter such as erythema toxicum, miliaria, neonatal HSV infection, and staphylococcal folliculitis?
The lesions in erythema toxicum, miliaria, neonatal HSV, and staphylococcal folliculitis lesions are
-erythematous, or have an erythematous rim or base, and
-no hyperpigmented macules are noted as in TNPM.
Physiologic jaundice usually starts at ____ hours of life, peaks between ___ to ____ hours, and then begins to decrease to normal levels.
starts at 24 hours of life (not present at birth);
peaks between 48 and 96 hours f/by decline.
ABO incompatibility arises when the maternal blood type is _____ and the child is not _____.
maternal blood type is O (contains antibodies against A and B group antigens) and the child is not O.
Rh incompatibility arises when the mother is Rh ____ and the child is Rh ____.
mother is Rh negative and the child is Rh positive.
Infants with craniofacial dysmorphia must be diligently evaluated for the presence of _____.
other major anomalies especially for cardiac defects (mainly VSD), thoracic deformities, and poor prenatal and postnatal growth.
The presence of just one minor craniofacial abnormality that does not cause dysfunction is a/w dysfunction causing major anomalies that may require surgical correction in about 3% of cases; this association increases with more minor anomalies such that with 3 or more minor anomalies, associated major anomalies may exist in as high as about _____ % of cases.
90%
Eyes in Down syndrome are characteristically ____ slanting, whereas in fetal alcohol syndrome (FAS) are ____-slanting.
Down syndrome: upward-slanting eyes;
FAS: downward-slanting eyes.
The differential diagnoses in a child p/w bloody stools include ____ conditions.
- Meckel diverticulum: Painless rectal bleeding
- Intussusception: episodic abdominal pain (playful between episodes); currant-jelly stools (blood mixed with mucus)/ blood per rectum on CE; vomiting; sausage-shaped mass in RUQ, and empty RLQ (Dance sign).
- Malrotation with midgut volvulus: p/within 1 week of birth; bilious emesis & abdominal distension -> non-bilious vomiting and rectal bleeding when intestinal ischemia and necrosis set in.
- Food protein induced allergic proctocolitis (FPIAP): diarrhea and rectal bleeding; no abdominal discomfort on palpation or intermittent crying episodes.
_____ maintains the ductus arteriosus patency; hence, ____ pharmaceutical agents are given to close the ductus in newborns with PDA.
Prostaglandin (PGE2) maintains the ductus arteriosus patency;
hence, PGE2 inhibitors such as Indomethacin or ibuprofen are given to close the ductus in newborns with PDA.
Memory Aid: P for Prostaglandins, and P for Patency of the ductus!
Small PDAs are asymptomatic, while large ones p/w ____ complications.
-CHF
-FTT
-LRTI
The hallmark features of serum sickness–like reaction, that differentiate it from drug reactions such as SJS include _____ s/s.
Serum sickness–like reaction (a form of drug reaction) p/w
-fever and rash that resembles urticaria, but lesions are purple centrally.
-No blistering
-No mucosal involvement
-arthralgias and periarticular swelling is common.
Staphylococcal scalded skin syndrome (SSSS) caused by epidermolytic toxin (A&B) strains of S. Aureus occurs mostly in ____ age groups.
in children younger than 5 years.
_____ is a hypersensitivity reaction triggered by infection (mycoplasma, HSV) or drugs (sulfonamides, penicillins, antiepileptics) classically p/w a flulike prodrome f/by fever, blistering rash with epidermal detachment (Nikolsky sign) involving less than 10% of BSA, and ulcers affecting at least two mucous membranes (conjunctivae, buccal mucosa, lips, other).
SJS
SJS was formerly known as ___.
erythema multiforme major
SJS is a hypersensitivity reaction considered to represent one end of a spectrum of disease that includes toxic epidermal necrolysis (TEN); with SJS involving ____ % of BSA, and TEN involving ____ % of BSA.
SJS <10% of BSA;
TEN >30% of BSA.
SJS is most commonly triggered by ___ drug.
sulfonamides
SJS often begins ____ days after the drug exposure or infection, with prodromal flulike symptoms preceding the typical features of SJS by ____ days.
begins 7-21 days after drug exposure or infection;
flulike prodrome precedes SJS by 1-14 days.
The differential diagnosis of SJS includes ______conditions.
NO oral erosions or ulcers in the following disorder.
- Kawasaki disease (KD): also p/w non-purulent conjunctivitis, and lymphadenopathy.
- Urticaria: varying shaped evanescent wheals (lasting <2 - 3 hrs; always < 24 hrs). with NO blistering, NO fever.
- SSSS: p/w generalized sunburn-like erythema, radial “sunburst” crusting around the mouth.
- Serum sickness–like reaction: resembles urticaria but lesions are purple centrally, with arthralgias and periarticular swelling, and NO blistering.
A complex partial seizure is currently also known as ____.
focal impaired awareness seizure.
_____ test result is indicative of an epileptic seizure rather than a psychogenic seizure.
elevated serum prolactin level following a seizure
With an abnormal EEG in a patient with seizure, the risk of another seizure during the next year increases from 15% to ___%.
41%.
Describe the classification of seizures based on the guidelines set by the International League Against Epilepsy.
- Generalized onset seizures: affect both sides of the brain; include tonic-clonic, absence, and atonic seizures.
- Focal onset seizures: fka partial seizure; begin in one specific area of the brain; include
-Focal aware seizures fka simple partial seizure.
-Focal impaired awareness seizure fka complex partial seizure: the patient is confused or unaware. - Unknown onset seizures: Unknown beginning, or not witnessed/seen by anyone (eg, seizure at night or is experienced by a person who lives alone); may later be diagnosed as a focal or generalized seizure.
_____ is the first-line treatment for absence seizures.
Ethosuximide
Absence seizures which usually present as staring spells lasting 5–10 seconds p/w ____ findings on an EEG.
the classic 3-per-second spike-and-wave discharges.
The best immediate treatment for an infant with hemolytic disease of the fetus and newborn (HDFN) is _____.
exchange transfusion (instead of simple transfusion) of the infants’ Rh-positive blood with Rh-negative blood;
*especially in patients with severe anemia (Hct <25%) and severe hyperbilirubinemia, exchange transfusion is preferred over simple transfusion.
The risk of hemolytic disease of the fetus and newborn (HDFN) with life-threatening consequences can be prevented by giving ____ to a Rh-negative primigravida.
Rho(D) immune globulin IV (RhoGAM)
Note: this strategy prevents the mother from mounting an immune response against the Rh antigen following intra-natal exposure to the latter, thus averting the r/o HDFN in future pregnancies.
The most severe form of hemolytic disease of the fetus and newborn (HDFN) presents with ______;
mild-moderate HDFN d/t RhD or other blood group incompatibility present with ___ and ____.
most severe HDFN: hydrops fetalis.
Mild to moderate HDFN: p/w indirect hyperbilirubinemia within the first 24 hours of life and anemia d/t hemolysis of antibody-coated fetal RBCs.
Symptomatic anemia in newborn babies with hemolytic disease of the fetus and newborn (HDFN) p/w ____ and ____.
lethargy or tachycardia
The differential diagnoses for hemolytic disease of the fetus and newborn (HDFN) include ______ conditions/disorders that also p/w neonatal jaundice and hemolytic anemia.
- Erythrocyte membrane defects e.g hereditary spherocytosis
- Erythrocyte enzyme deficiencies e.g. G6PD deficiency, pyruvate kinase deficiency.
_____ test is used to differentiate hemolytic disease of the fetus and newborn (HDFN) from other disorders that may also p/w neonatal jaundice and hemolytic anemia such as hereditary spherocytosis, G6PD or pyruvate kinase deficiency.
positive direct or indirect antiglobulin test (Coombs test) in HDFN.