Neurology/Developmental Flashcards
What is Down syndrome?
a genetic chromosome 21 disorder causing developmental and intellectual delays
What is Down syndrome?
a genetic chromosome 21 disorder causing developmental and intellectual delays
What is the most common chromosomal disorder and cause of mental retardation?
down syndrome
What are the characteristic of Down syndrome?
characterized by trisomy 21 (most often) or chromosomal translocation
What are the risk factors for Down syndrome?
risk factors include advanced maternal age
- 1:1500 in women under 20
- 1:25 in women over 45
What is Down syndrome associated with?
- acute lymphocytic leukemia
- early-onset Alzheimer’s disease
- atlantoaxial instability
What are the dysmorphic features of Down syndrome?
- microcephaly, flat occiput, flattened face, epicentral folds, flat nasal bridge, upward-slanting palpebral fissures, small nose/mouth, protuberant tongue, low-set/small ears, short neck, excessive nuchal skin, Brushfield spots (small white/grayish spots on periphery of iris), shortened extremities, big gap between first toe (hallux)
- other = single transverse palmer crease, short fifth finger with clinodactyly
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
- an amniotic fluid sample is obtained with a fine needle through the abdomen and uterus
- performed during 15th week of pregnancy or later
- less risk to the child than chorionic villus sampling
- usually indicated for mothers> 35 years old
Chorionic villus sampling (CVS)
- placental tissue sampling is relieved via vagina and cervix
- usually performed between the 10th and 12th week of pregnancy
- more risk to the child, but can be performed earlier
- usually indicated in mothers > 35 years of age
Quadruple screen (normally does some time between the 15th and 22nd): looks for four specific substances: AFP, hCG, estriol, and inhibin-A
- increased serum beta-human chorionic gonadotropin (B-hCG), inhibin A
- decreased unconjuaged estiol (uE3), alpha-fetoprotein (AFP)
Postnatal diagnosis
- fluorescent in situ hybridization (FISH), karyotyping
- postnatal diagnosis = clinical identification of dysmorphic features
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
-an amniotic fluid sample
What is the most common chromosomal disorder and cause of mental retardation?
down syndrome
What are the characteristic of Down syndrome?
characterized by trisomy 21 (most often) or chromosomal translocation
What are the risk factors of febrile seizure?
- elevated fever (>38 C)
- age - potentially due to developing nervous system being vulnerable to fever
- viral infection (HHV-6, influenza virus)
- family history - potential genetic component
- recent immunizations - the absolute risk is small
What is Down syndrome associated with?
- acute lymphocytic leukemia
- early-onset Alzheimer’s disease
- atlantoaxial instability
What is the tx of febrile seizure?
- mostly counseling, reassurance, and education the parent, antipyretics help alleviate symptoms of fever
- further consideration for complex febrile seizures more commonly associated with infection or structure abnormalities
- consider obtaining EEG though not required
- may treat with benzodiazepine if lasts > 5 minutes
- terminate status epileptics with benzo or phenytoin
- initiate status epileptics protocol if continues
- rarely develops into epilepsy
- monitor complex febrile seizures as more likely to recur
What are the most common issues for those affected with Down’s syndrome?
- septal defects between atria
- duodenal atresia
- increased risk for acute lymphoblastic leukemia
- mental retardation and an increased risk for Alzheimer disease
- sterility in males
How is Down syndrome dx?
Ultrasound
- prenatal diagnosis = nuchal translucency (weeks 11-14)
- increased nuchal translucency and a hypoplastic nasal bone in a first-trimester ultrasound
Lab results = prenatal diagnosis
-chorionic villus sampling/amniocentesis
Amniocentesis
-an amniotic fluid sample
What is the tx of Down syndrome?
prenatal genetic counseling; supportive management of affected body systems
What is a febrile seizure?
convulsion associated with an elevated temperature greater than 38 (100.4 F)
-associated with fever without evidence of CNS infection, afebrile seizure history, or metabolic disturbance
What is the most common seizure in infants and young children?
febrile seizure
-occurs between 6 months and 5 years of age, with a slight male predominance
What are the risk factors of febrile seizure?
- elevated fever (>38 C)
- age - potentially due to developing nervous system being vulnerable to fever
- viral infection (HHV-6, influenza virus)
- family history - potential genetic component
- recent immunizations - the absolute risk is small
How are febrile seizure dx?
clinical diagnosis
- consider lumbar puncture if suspicious of meningitis
- lack of Haemophilus influenza type B or streptococcus pneumonia vaccination
- physical exam suggesting meningitis or some CNS infection
- lab may be used for seizure evaluation in the setting of complex febrile seizure
- do if useful to identify fever source
What is the tx of febrile seizure?
- mostly counseling, reassurance, and education the parent, antipyretics help alleviate symptoms of fever
- further consideration for complex febrile seizures more commonly associated with infection or structure abnormalities
- consider obtaining EEG though not required
- may treat with benzodiazepine if lasts > 5 minutes
- terminate status epileptics with benzo or phenytoin
- initiate status epileptics protocol if continues
- rarely develops into epilepsy
- monitor complex febrile seizures as more likely to recur
What are the CSF finding on lumbar puncture for meningitis?
- bacterial: increase protein, decrease glucose (bacteria love to eat glucose
- viral: no specific characteristics but may have lymphocytes
-make sure the patient does not have increased intracranial pressure prior to LP check for papilledema and get a CT scan if you are unsure if there is swelling in the brain (risks include age >60, immunocompromised, AMS, focal near finding or papilledema)
What is the classical triad of meningitis?
headache, fever, and a stiff neck (nuchal rigidity)