Congenital Diseases Flashcards
Sickle Cell Anemia Description
Hereditary, chronic anemia
Sickle or crescent-shaped RBC. Impairs circulation, damage blood vessels, produce organ damage. Most prevalent among those w/ African descent.
Sickle Cell Anemia Etiology
Presence of abnormal form of hemoglobin (Hemoglobin S).
Sickle Cell trait
One Hemoglobin S gene
Sickle Cell Anemia
Two copies of Hemoglobin S genes
Sickle Cell Anemia Signs/Symptoms
Acute
Episodic attacks of intense pain (crises) in arms, legs, or abdomen, fever Chronic: Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.
Infections, stress, and extreme temperatures may trigger a crises.
Sickle Cell Anemia Chronic Sx
Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.
Infections, stress, and extreme temperatures may trigger a crises.
Sickle Cell Anemia Chronic Sx
Chronic: Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.
Infections, stress, and extreme temperatures may trigger a crises.
Sickle Cell Anemia Chronic Sx
Jaundice, chronic fatigue, dyspnea, tachycardia, pallor.
Infections, stress, and extreme temperatures may trigger a crises.
Sickle Cell Anemia Diagnostic Procedures
Infant Screening for at-risk patients. Low hematocrit and sickled cells on blood smear.
Treatment
Symptomatic treatment including analgesics and hydration. Folate replacement.
Blood transfusions, bone marrow transplant.
Prognosis
Variable depending on the degree of severity. Life-threatening disease, with life expectancy into middle age.
Prevention
None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate rest.
Sickle Cell Anemia Treatment
Symptomatic treatment including analgesics and hydration. Folate replacement.
Blood transfusions, bone marrow transplant.
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Sickle Cell Anemia Prognosis
Variable depending on the degree of severity. Life-threatening disease, with life expectancy into middle age.
Prevention
None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate res
Sickle Cell Anemia Prevention
None.
Symptomatic prevention includes healthy diet, folic acid supplement, proper hydration, avoid extreme temperatures, moderate exercise and adequate res
Neural Tube Defects Description
Include spina bifida, meningocele, myelomeningocele (see p. 117). Develop in the 1st month of pregnancy. Incomplete closure of the bones encasing the spinal cord.
Neural Tube Defects Etiology
Expected closure of neural tube between day 20-23 of gestation.
Cause of lack of closure unknown. Research supports the lack of folic acid as a cause.
Neural Tube Defects Signs/Sx
Symptoms range from dimple, hair tuft, nevus to foot weakness, bowel/bladder dysfunction, sac-like protrusion, partial paralysis, club foot, Chiari malformation
Neural Tube Defects Diagnostic Procedures
Prenatal evaluation through ultrasound between 14-16 weeks. Aminocentesis.
After birth physical exam, x-ray, sensory and motor exam
Neural Tube Defects Treatment
No cure. Treatment ranges from none to surgical repair and supportive measures.
Neural Tube Defects Prognosis
Dependent on extent of neurological deficit. Spina bifida has the best prognosis
Neural Tube Defects Prevention
Folic acid during pregnancy
Hydrocephalus Description
Too much cerebrospinal fluid (CSF) in the ventricles of the brain.
Etiology
Genetic defect or developmental disorder associated with the neural tube. Trauma, specific infections
Signs/symptoms
Symptoms vary. Enlarged head (infant), high-pitched cries, abnormal muscle tone in their legs. Projectile vomiting, irritability, sleepy. Older children: headache, nausea, vomiting, blurred vision, problems with balance, coordination, and walking.
Hydrocephalus Description
Too much cerebrospinal fluid (CSF) in the ventricles of the brain.
Hydrocephalus Etiology
Genetic defect or developmental disorder associated with the neural tube. Trauma, specific infections
Signs/symptoms
Symptoms vary. Enlarged head (infant), high-pitched cries, abnormal muscle tone in their legs. Projectile vomiting, irritability, sleepy. Older children: headache, nausea, vomiting, blurred vision, problems with balance, coordination, and walking.
Hydrocephalus Signs/Sx
Symptoms vary. Enlarged head (infant), high-pitched cries, abnormal muscle tone in their legs. Projectile vomiting, irritability, sleepy. Older children: headache, nausea, vomiting, blurred vision, problems with balance, coordination, and walking.
Hydrocephalus Diagnostic Procedures
Neurological assessment and physical exam. Ultrasound, MRI, CT
Treatment
Surgical correction. Shunt fluid away from the ventricles to the abdomen.
Prognosis
Guarded. Expect both cognitive and physical developmental difficulties, vision loss, impaired motor function.
Hydrocephalus Diagnostic Procedures
Neurological assessment and physical exam. Ultrasound, MRI, CT
Hydrocephalus Treatment
Surgical correction. Shunt fluid away from the ventricles to the abdomen.
Hydrocephalus Prognosis
Guarded. Expect both cognitive and physical developmental difficulties, vision loss, impaired motor function.
Hydrocephalus Prevention
Prenatal care
Avoid head injuries
Update immunizations
Cerebral Palsy Description
Permanent, bilateral, symmetrical, nonprogressive paralysis due to developmental defects of the brain or trauma at birth
Etiology
Central nervous system damage. 70-80% happen before birth. Causes include maternal rubella, diabetes, anoxia, toxemia, preeclampsia. 10% caused by birth trauma, prematurity, or asphyxia due to umbilical cord being wrapped around infant’s neck. Postnatal: Trauma, meningitis, poisoning.
Cerebral Palsy Description
Permanent, bilateral, symmetrical, nonprogressive paralysis due to developmental defects of the brain or trauma at birth
Cerebral Palsy Etiology
Central nervous system damage. 70-80% happen before birth. Causes include maternal rubella, diabetes, anoxia, toxemia, preeclampsia. 10% caused by birth trauma, prematurity, or asphyxia due to umbilical cord being wrapped around infant’s neck. Postnatal: Trauma, meningitis, poisoning.
Cerebral Palsy Signs/Sx Spastic:
70%, hyperactive reflexes, raid muscle contraction, muscle weakness, spasticity, underdeveloped limbs.
Athetoid: 20% Involuntary muscle movements. Slow, writhing, impaired muscle tone (dystonia). Difficulty speaking
Ataxic: 10% Difficulty with balance, depth perception, and coordination. Rhythmic, involuntary movement of the eyeball (nystagmus). Muscle weakness, tremor. Sudden movements nearly impossible.
Cerebral Palsy Signs/Sx Spastic:
70%, hyperactive reflexes, raid muscle contraction, muscle weakness, spasticity, underdeveloped limbs.
Cerebral Palsy Athetoid:
20% Involuntary muscle movements. Slow, writhing, impaired muscle tone (dystonia). Difficulty speaking
Ataxic: 10% Difficulty with balance, depth perception, and coordination. Rhythmic, involuntary movement of the eyeball (nystagmus). Muscle weakness, tremor. Sudden movements nearly impossible.
Cerebral Palsy Athetoid:
20% Involuntary muscle movements. Slow, writhing, impaired muscle tone (dystonia). Difficulty speaking
Cerebral Palsy Ataxic:
10% Difficulty with balance, depth perception, and coordination. Rhythmic, involuntary movement of the eyeball (nystagmus). Muscle weakness, tremor. Sudden movements nearly impossible.
Cerebral Palsy Diagnostic Procedures
Infant neurological assessment, physical exam. Inability to suck or keep food in mouth, difficulty in voluntary movements, difficulty separating the legs during diaper change, use of only one hand or both hands but not the legs. Ultrasound, CT, MRI.
Treatment
No cure.
Therapeutic treatment targeted to help overcome functional or intellectual disability. Physical, occupational, speech therapy.
Stem cells.
Prognosis
Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.
Cerebral Palsy Diagnostic Procedures
Infant neurological assessment, physical exam. Inability to suck or keep food in mouth, difficulty in voluntary movements, difficulty separating the legs during diaper change, use of only one hand or both hands but not the legs. Ultrasound, CT, MRI.
Cerebral Palsy Treatment
No cure.
Therapeutic treatment targeted to help overcome functional or intellectual disability. Physical, occupational, speech therapy.
Stem cells.
Prognosis
Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.
Cerebral Palsy Prognosis
Varies depending on impairment. Life-long therapy often required.
Prevention
Early prenatal care, good maternal health, proper delivery care.
Cerebral Palsy Prevention
Early prenatal care, good maternal health, proper delivery care.
