10.3 Disease of Infancy and Childhood Flashcards
Most inborn errors of metabolism are rare disorders that are inherited by which of the following means?
A. X-linked and Autosomal Recessive
B. Autosomal Dominant and X-linked
C. Autosomal Dominant and Autosomal Recessive
D. Mitochondrial Inheritance and Genomic Imprinting
A. X-linked and Autosomal Recessive
NOTE: Mitochondrial disorders form their own distinct class too, but are not the most common contributers
BElow is a table depicting abnormalities that suggest inborn errors of metabolism
Look again
Which of the following correctly describes Phenylketonuria (PKU)?
A. Autosomal recessive disorder where phenylalanine hydroxylase (PAH) is deficient
B. Autosomal recessive disorder where phenylalanine decarboxylase is deficient
C. X-linked recessive disorder where phenylalanine hydroxylase (PAH) is deficient
D. Mitochondrial inheritance disorder where phenylalaine hydroxylase is deficient
A. Autosomal recessive disorder where phenylalanine hydroxylase (PAH) is deficient
NOTE: Deficiency in PAH or DHPR can result in PKU developing
A mother with a history of PKU comes into your clinic looking for advice on preparing for pregnancy. She isn’t worried about her child having PKU because the father is not a carrier. Moreover, she was successfully treated with dietary restriction of phenylalaine early in life, and though she has since discontinued the practice since reaching adulthood, she has not experienced any issues. If she were to become pregnant before resuming strict dietary restriction of phenylalanine, what might we see in her infant?
A. No symptoms as phenylalanine is not a teratogen that’s able to cross the placental membrane
B. Mental retardation, microcephally, and congenital heart disease is seen only if the child is homozygous recessive
C. Mental retardation, microcephally, and congenital heart disease is seen even if the child is homozygous dominant
D. Mental retardation, microcephally, and congenital heart disease is seen even if the child is heterozygous
D. Mental retardation, microcephally, and congenital heart disease is seen even if the child is heterozygous
NOTE: the above is describing children with Maternal PKU
NOTE: Phenylalanine is teratogenic and can cross the placenta, and the severity of Maternal PKU is dependent on the mothers phenylalanine levels
Select all of the following that are variants from the classic phenylketonuria.
A. People with at least 4% activity of PAH
B. People with at least 6% or more activity of PAH
C. People who abnormally synthesize tetrahydrobiopterin BH4 due to DHPR deficiency
D. None of the above
B. People with at least 6% or more activity of PAH
C. People who abnormally synthesize tetrahydrobiopterin BH4 due to DHPR deficiency
NOTE: DHPR folks can’t be treated with phenylalanine dietary restriction
Galactosemia is an auosomal recessive disorder where there’s a deficiency in ________ that leads to an accumulation of ______ in tissues like the liver, heart mucsle, cerbral cortex, eye lens, kidneys, and erythrocytes.
A. Galactohydrolase; galactose-2-phosphate
B. Galactohydrolase; galactose-1-phospahte
C. Galacose-1-phosphate uridyl transferase; galactose-1-phosphate
D. Galactokinase; galactose-1-phosphate
C. Galacose-1-phosphate uridyl transferase; galactose-1-phosphate
D. Galactokinase; galactose-1-phosphate
NOTE: C is more common
A woman comes in with slurred speech and some mild ataxia. Her husband is worried that she’s hiding a drinking problem even though she denies it. The husband wants you to perform a liver biopsy to check for cirhossis of the liver and prove his wife is a liar. You, who lacks a moral compass, perform a liver biopsy and get back what looks like a cirrhotic liver covered with fat cells. However, because your psychic (or because its not relevant to this chapter) you know the woman does not have a drinking problem. Instead, what is most likely going on here?
A. Hepatomegaly from fatty change due to an autosomal recessive mutation of Galactose-1-phosphate uridyl transferase
A. Hepatomegaly from fatty change due to an autosomal recessive mutation of Galactose-1-phosphate uridyl transferase
Cystic fibrosis is due to an abnormal ECl- channel protein encoded by a gene found on what chromosome?
Chromosome 7q31.2
Normally a CFTR mutation causes a compensatory increase in ENaC activity bringing more sodium into the cells. However, in what location in the human body do we see DECREASED activity of ENaC in people with CFTR mutation?
A. Sweat glands
B. Salivary Glands
C. Pancreas
D. Submandibular glands
Sweat glands
Which of the following classes of CF do we see defective protein synthesis that results in a complete lack of CFTR found in the apical membrane?
A. Class I
B. Class II
C. Class III
D. Class IV
E. Class V
F. Class VI
Which of the following classes of CF do we see errors in the folding, packaging, and trafficking of CFTR protein that results in lack of CFTR on the apical surface?
A. Class I
B. Class II
C. Class III
D. Class IV
E. Class V
F. Class VI
B. Class II
Which of the following classes of CF do we see CFTR present on the apical surface, but defective regulation prevents it from ever being activated?
A. Class I
B. Class II
C. Class III
D. Class IV
E. Class V
F. Class VI
Class III
Which of the following classes of CF do we see decreased conductance where the mutation is usually found in the transmembrane doamin that forms the pore for the Cl- ion?
A. Class I
B. Class II
C. Class III
D. Class IV
E. Class V
F. Class VI
Class IV
Which of the following classes of CF do we see milder clinical symptoms due to the mutation causing a decreased abundance of the apical surface?
A. Class I
B. Class II
C. Class III
D. Class IV
E. Class V
F. Class VI
Class V
Look at this chart. Know criteria for diagnosis
What is it?
SIDS is defined as the sudden death of an infant under 1 year of age that us unexplained after a thorough case investigation, autopsy, examination of the scene at death, and review of clinical history. Explain how SUID is different that SIDS?
SUID is sudden death of an infant that is found to have an UNEXPECTED anatomical or biochemical basis for cause of death that is found during autopsy
REcognize the risk factors and post mortem findings associated with sudden infant death syndrome
Read again
Although autopsy usually fails to show clear cause of death, which of the following correctly characterizes the most common morphology of SIDS seen postmortem?
A. CNS astroglosis of brainstem and cerebellum, and maybe accompanying hypoplasia of arcuate nucleus or decreased size of brainstem
B. Histological evidence of recent infection in upper respiratory system like larynx and trachea
C. Gross lungs look congested, engorged vascularly, with or without presence of pulmonary edema
D. Multiple petechiae often found in the thymus, visceral and parietal pleura, and epicardium
D. Multiple petechiae often found in the thymus, visceral and parietal pleura, and epicardium
The most accepted pathogenesis that leads to sides is a “triple-risk” model of three factors that overlap and contribute to SIDS. What are those 3 factors in your own words?
- vulnerable infant
- developmental period of homeostatic control
- exogenous stressor
Define the two categories of tumor-like lesions that are NOT TRUE TUMORS
- Heterotopia
- Hamartoma
1. Heterotopia
Normal cell in the wrong place
2. Hamartoma
Overgrowth of the normal cell in the right place
The most common tumors of childhood originate from ________, while for adults they originate from _______.
A. Epidermis; soft tissue
B. Soft tissue; epidermis
C. Epidermis; epithelium
D. Soft tissue; epithelium
D. Soft tissue; epithelium
Which of the following benign tumors of childhood is differentiated from adult tumors based on the presence of consititutively activated ETV6-NTRK3?
A. Lymphatic tumors
B. Hemangiomas
C. Fibrous Tumors
D. Teratomas
C. Fibrous Tumors
NOTE: ETV6-NTRK3 is unique to infantile fibrosarcomas, which is useful because infantile fibrosarcomas are indistinguishable from adult fibrosarcomas
Which of the following benign infantile tumors are the most common?
A. Lymphatic Tumor
B. Hemangioma
C. Fibrous Tumor
D. Teratomas
B. Hemangioma
Which of the following is true of infant hemangiomas? Bonus: highlight the words that made the wrong answers wrong
A. Greatly differ architectually from adult hemangiomas
B. Cavernous hemangiomas in the infant tend to be more cellular compared to the adult
C. Most are found in the face and butt
D. Produce flat to elevated, irregular blue masses sometimes called “port-wine stains”
A. Greatly (DO NOT) differ architectually from adult hemangiomas
B. Cavernous (Capillary) hemangiomas in the infant tend to be more cellular compared to the adult
C. Most are found in the face and butt(scalp)
D. Produce flat to elevated, irregular blue masses sometimes called “port-wine stains”
Be able to write out and understand this chart
Again please, cool
- 2 Ladies Reveal Nothing, but 1 Woman Can’t Handle 3 Soft Tacos…i’ll Explain Later*
- 4 9 14*
What are the histologic features of a classic neuroblastoma? (Hint: Think of a classically good movie for a pretencious person…)
- small cells with dark nuclei
- poorly defined borders
- little cytoplasm
- Karyorrhexis (nuclear breakdown)
- Mitotic activity
- Pleiomorphism (shapes & sizes are not uniform)
- neuropils surround Homer-Wright pseudorosettes
- Classic Movie: A little dark with an ambiguous structure in a small setting, it breaks down your brain, and keeps you split, because of its lack of uniformity. It’s a pill, and its due to the Home Writer*
ENuroblastomas have a positive immunohistochemical reaction for which of the following?
A. Secretory vesicles filled with catecholamine
B. Neuron-specific enolase
C. Neuron-specific hydrolase
D. All of the above
B. Neuron-specific enolase
NOTE: Neuroblastomas do show secretory vesicles filled with catecholamines seen in their ultrastructure
The presence of Schwannian stroma with organized fasicles and fibroblasts is a histological pre-requisit for designation of which of the following?
A. Neuroblasomas
B. Wilms tumor
C. Ganglioneuromas
D. Schann-neuroblastomas
C. Ganglioneuromas
NOTE: The presence of Schwannian stroma is associated with a favorable outcome
PResence of which of the following histologic descriptions in a biopsy of a patient with Wilms tumor is associated with the presence of mutant p53 (TP53) and the emergence of becoming resistant to chemotherapy?
A. Heterologous elements including squamous or mucinous epithelium, smooth muscle, adipose tissue, cartilage, and osteoid and neurogenic tissue
B. Sheets of small blue cells that describe blastemal components
C. Primitive tubules or glomeruli that describe epithelial components
D. Fibrocytic or myxoid cells with potential presence of skeletal muscle differentiation that describe stromal components
E. Large hyperchomatic, pleimorphic nuclei and abnormal mitoses that describe anaplasia
E. Large hyperchomatic, pleimorphic nuclei that describe anaplasia
The picture below most likely comes from a patient with which of the following diseases?
A. Neuroblastomas
B. Wilms Tumor
C. Denys-Dasher syndrome
D. Nephrogenic Rests
E. Gangneuroblastoma
B. Wilms Tumor
