PFM Clinical Cases Week 2 Flashcards
somatic disease (not heritable) due to mutation in GNAS leading to increased cAMP production
McCune Albright
2 autosomal recessive diseases due to mutation in DNA repair
Ataxia Telangectasia (A-T)
Fanconi Anemia
X-linked recessive syndrome due to deficiency of HPRT enzyme
Lesch-Nyhan Syndrome
X-linked dominant syndrome due to mutation of FMR1 gene b/c of CGG repeats
Fragile X Syndrome
key clinical features of this disease include the triad of features:
1. Fibrous Dysplasia
2. Cafe-au-lait spots
3. early puberty
McCune Albright Syndrome
presents with bone pain, limp, and triad of features, hyperthyroidism, scoliosis, fractures, macrocephaly, and vision and hearing loss
McCune Albright Syndrome
diagnose this disease by triad of features, Shepherd’s Crook, and biopsy bone
NO genetic testing
McCune Albright Syndrome
supportive care, stabilization of joints and manage sx’s is the treatment for this syndrome
McCune Albright Syndrome
key clinical features include:
cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency and thymic hypoplasia
Ataxia Telangiectasia (A-T)
this disease has a specific mutation in ATM gene
Ataxia Telangiectasia (A-T)
key history and presentation of ataxia, gait, impaired hand coordination, telangiectasia, loss of reflexes, failure to thrive, premature aging
A-T
diagnose this disease with the clinical features but labs as well: lymphonpenia (lowered white blood cell count) and deficiency in IgA
can confirm with ATM testing
A-T
treatment/therapy for this disease includes:
supportive therapy, immune function and pulmonary function testing, monitor for cancers
A-T
main clinical features for this disease includes:
blood production problems and bone marrow failure
petechiea and bruises
pallor
fatigue
infections
Fanconi Anemia
physical exam includes:
short stature
cafe-au-lait
thumb/wrist abnormalities
microcephaly
Fanconi Anemia
diagnosis of this disease includes:
chromosome breakage test
flow cytometry
potential bone marrow aspiration
Fanconi Anemia
therapy for this disease includes:
transfusions to correct anemia
stem-cell transplant
surgery as needed
Fanconi Anemia
key clinical features of this disease includes:
overproduction of uric acid
neurologic disability
self-inflicted harm
Lesch-Nyhan Syndrome
key history includes:
delayed motor development
abnormal involuntary movements
“Orange Sand” urine or hematuria
biting themselves
gout-like pain
Lesch-Nyhan Syndrome
physical exam includes:
renal stones or hematuria
tophi (deposits of urate in soft tissue)
chorea (abnormal dance like movements)
self-mutilation
Lesch-Nyhan Syndrome
diagnosis of this disease:
elevated uric acid in blood
HPRT enzyme assay and genetic testing
Lesch-Nyhan Syndrome
therapy/treatment for this disease includes:
allopurinol to control uric acid
protective devices
Lesch-Nyhan Syndrome
key clinical features:
most common cause of autism
speech delay
cognitive impairment
neuropsychological problems
self-injurious behavior
Fragile X Syndrome
key history of this disease:
family history of developmental problems
developmental delay
preservation (say phrase over and over)
echolalia (say same word or sound over and over)
autistic like behavior
Fragile X Syndrome
