Congenital/Pediatric Diseases Flashcards
For malformation, an error of morphogenesis, another word for intrinsically abnormal development processes that are caused by genetic, environmental, or multifactorial factors is
Primary errors of morphogenesis
A cause of malformation includes genetic diseases like (2)…
Down Syndrome
Turner/Klinefelter Syndrome
Environmental causes of malformation include… (2)
Viruses (rubella)
Drugs
Drugs which cause malformation include:
This drug which causes limb malformations, and the symptoms of it depend upon timing of exposure
This drug which causes FAS
This activity which causes low birth weight and SIDS
Thalidomide
Alcohol
Smoking
These malformations are multifactorial in nature (environment + genetic causes)
Cleft palate/lip, neural tube defects
This malformation caused by drugs leads to low birth weight, heart septum defects, short memory spans, impulsive behavior, and is the #1 cause of mental impairment
FAS
This neural tube defect causes the cranial vault to be absent
Anencephaly
This neural tube defect causes brain protrusion
Encephalocele
This neural tube defect causes the spinal cord not to close
Spina Bifida
This is an extrinsic disurbance in morphogenesis, the secondary DESTRUCTION of an organ or body region that was previously normal in development
Disruption
This is a disruption where the amnion is ruptured, bands form and compress/attach to parts of the developing fetus
Amniotic bands
The environmental causes of amniotic bands:
Viral infections, drugs, radiation
These are extrinsic disturbances of development, caused by uterine constraint at about 35-38 weeks of gestation (fetus outgrows uterus
High risk with small uterus, leiomyomas, multiple fetuses
Deformations (look at 2 figures in presentation showing disruption vs deformation in a flow chart and table)
This error in morphogenesis is multiple congenital anomalies resulting from secondary effects of a single error in organogenesis
It may be initiated by malformation, deformation, or disruption
Sequence
This is an example of a sequence error in morphogenesis, due to amnion rupture/maternal hypertension/fetal renal agenesis, decreased amniotic fluid (oligohydrmanios) results in flattened faces, dislocated hips, and incomplete chest and lung growth
Potter (oligohydramnios) Sequence
This error in morphogenesis has a single cause (viral infection/chromosomal abnormality) that simultaneously affects several tissues
Malformation Syndrome
Two examples of malformation syndromes include…
Down Syndrome and Prader-Willi syndrome
For pathogenesis, the 1st 9 weeks of pregnancy are termed what?
The Embryonic Period
The early embryonic period is from what weeks?
Weeks 1-3
The weeks of the embryonic period that are very susceptible to teratogens are…
Weeks 3-9 (organs form during weeks 4-5)
The Fetal Period occurs during what weeks of development?
10 weeks - birth
During this period of development, the fetus is susceptible to growth retardation/injury to already formed organs
Fetal Period
This is defined as the sudden death of an infant under 1 year of age while asleep (crib death). It is of unknown cause, and is therefore a disease of exclusion. It is multifactorial
(look at factors in slide)
SIDS
This is the most common tumor of infancy, it is present at birth or shortly thereafter
Hemangiomas
60% of hemangiomas in infants are located in what region?
Head and neck
Hemangiomas are a benign tumor of blood vessels:
This type occur in organs and sometimes skin
This type occurs in skin and oral mucosa, and the strawberry type usually regresses at birth
Cavernous Hemangioma
Capillary Hemangioma
Hemangiomas are elevated red/blue masses, large flat lesions are called
Port wine stains
This is a benign tumor of dilated lymph vessels. It is present at birth or acquired. They increase in size after birth, and are present where there are lymph nodes (skin, deep regions of the neck, axilla, mediastinum, and retroperitoneum
Lymphangioma
Under the microscope, these types of tumors look like small, round, blue cell tumors and originate from embryonic cells
Malignant Tumors
This is the second most common solid malignancy of childhood after brain tumors. Most are sporadic but 1-2% are familial.
In situ (non-invasive) lesions are 40% more common than overt tumors and most regress
Neuroblastoma
Neuroblastomas arise from what?
Primordial neural crest cells
Most neuroblastomas arise in the _____, others in the paravertebral region of the abdomen
In situ lesions are 40% more common than overt tumors and most regress
Adrenal Medulla
Neuroblastomas histologically are primitive appearing cells with dark nuclei, poorly defined cells growing in solid sheets, show mitosis, and these rosettes (pink homogenous areas)
Homer-Wright Rosettes
The outlook for children younger than 18 months with neuroblastomas is more favorable than older children. Amplification of the ______ oncogene has a profound effect, giving poor prognosis to those cases (25%)
Overexpression of _____ has adverse prognostic factors
NMYC Oncogene
Telomerase
This malignant tumor in infants is an intraocular malignancy
Retinblastoma
Retinoblastomas have a 40% mutation in this gene (heritable)
RB1 gene
Retinoblastomas are neural in origin, and can be both bilateral (familial) or unilateral (sporadic)
Familial cases have increased chance of _____
Osteosarcoma
The clinical presentation of retinoblastom is that it is present at birth, but presents at about age…
Patient will have poor vision, this term for lazy eye, a whitish hue to the pupil (cat’s eye reflex), and pain and tenderness
2
Strabismus
Retinoblastomas have a high survival rate with treatment, but the familial type has an increased chance of…
Osteosarcoma
This malignant tumor is a tumor of the kidney. It presents as an abdominal mass with abdominal pain and has very good prognosis
It occurs at what years of age
Wilm’s Tumor (Nephroblastoma)
2-5 years
Nephroblastoma causes an increased risk in 3 syndromes, including WAGR, DDS, and BWS
How do they present?
What is their prognosis?
Beckwith Wiedemann syndrome
Abdominal masses
Very Good
Look at diagram illustrating when certain organs develop!
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