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ABGC Boards Review > Illustrative Cases- Test Yourself! > Flashcards

Illustrative Cases- Test Yourself! Flashcards

1
Q

Tetralogy of Fallot (discharged at DOL3)
Twitching and jerking at home –> hospitalized for seizure and ? stroke
Calcium 4.7
Recurrent sinusitis/otitis with significant T-cell dysfunction (live viral vaccines held until 7 yo)
Speech/language delay
Enamal hypoplasia
Cervical, thoracic vertebral anomalies, Scoliosis
Short stature, ITP, constipation
ID, dyslexia, significant anxiety, ADHD

A

22q11.2 Deletion Syndrome

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2
Q

Complex cardiac anomaly
Hypocalcemic seizures and ITP
Sepsis and necrotizing enterocolitis
Passed at 4 mo

A

22q11.2 Deletion Syndrome

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3
Q 
Failure to Thrive (in newborn period)
Mild dysmorphic features
Severe GERD (resulting in G-tube placement)
Intestinal malrotation
Mild learning differences
ADHD and anxiety
A

22q11.2 Deletion Syndrome

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4
Q

Significant respiratory and swallowing issues at birth
Hypocalcemia
Severe GERD
Chronic otitis media
Mild delays (motor and speech milestones)

A

22q11.2 deletion syndrome

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5
Q 
Cleft palate
SN Hearing loss
Laryngotracheomalacia
Sleep apnea
GERD
Bilateral inguinal hernia repair
Cryptorchidism
Chronic infections (requiring IVIG therapy)
Polymicrogyria
Congenital nystagmus
Developmental Delay (non-verbal; non-ambulatory)
A

22q11.2 deletion syndrome

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6
Q

Patient with autism and mild dysmorphisms on exam
Maternal aunt has anxiety
Maternal cousin (male) has ID
Maternal grandmother with bipolar disorder
Maternal great aunt with learning disability
Maternal Great-grandfather (father of maternal grandmother) with atypical Parkinson’s disease

A

Fragile X Syndrome

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7
Q 
7.5 y/o male
ASD and mild pulmonic stenosis
cryptorchidism bilaterally
ptosis, strabismus, and disconjugate gaze
short stature (with normal growth factors and thyroid function)
developmental delays/mild ID
down slanting palpebral fissures
hypertelorism
low set ears
wide spaced nipples
A

Noonan syndrome

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8
Q

13 y/o male
normal intelligence
severe cryptophthalmia with micropthalmia bordering on anopthalmia
low set ears with thick, over-folded superior helices
bilateral, cutaneous syndactyly of all digits (both fingers and toes)
prognathia
flared, upturned nares with prominent colomela
positive for consanguinity (parents are first cousins)
mother had 3 miscarriages (including a late pregnancy loss) and one stillbirth children, one with similar birth defects to the patient

A

Fraser Syndrome (AR mutations in the FRAS-1 or FREM2 genes)

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9
Q

6 y/o 4 m/o female
benign heart murmur
learning difficulties (regular kindergarten but problems with concentrating, distractible)
hooded eyelids
bulbous nose
low set ears with thickened/protuberant helices

A

22q11.2 del

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10
Q 
newborn infant
white forelock 
hypertelorism
hearing loss
broad, high nasal root
mom has white forelock, light irises, and telecanthus
A

Waardenburg syndrome

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11
Q 
newborn infant
metaphyseal flare
dumbbell long bones
'halberd' appearance
micromelic long bones
no fractures
A

Metatropic dysplasia

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12
Q 
3 y/o female
hypotonia
long, smooth philtrum invading the Vermilion border with tented upper lip
ptosis
macrocephally
low set ears
frontal bossing
frontal-pariatal balding
umbilical hernia
three supernumerary nipples
hyperpigmented areas following the dermatome
A

Palliser-Killian Syndrome

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13
Q

7 day old male presented to ER for breathing problems
initially feeding well, but began spitting up and refusing feeds at DOL 5, then over the next few days he became increasingly listless and had difficulty breathing - parents took to pediatrician who sent them to ER
Very lethargic and hypotonic
Pale
PE normal (no hepatosplenomegaly, no murmur, normal breath sounds)
CBC and spinal tap negative
No fever or sign of infection

A

Inborn error of metabolism

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14
Q 
Normal early development
Decreased R eye visual acuity following an eye injury at 15 y/o male with progressive worsening over a year (not correctable with glasses)
Decreased left eye vision
Decreased color vision
Bilateral peripheral vision loss
Nyctlopia
Bilateral optic nerve pallor on  eye exam
Normal brain imaging
A

Leber Hereditary Optic Neuropathy (LHON) homoplasmy (m.11778G>A ND4)

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15
Q

10 y/o male with…
scapla winging
exercise intolerance (can only walk about 10 minutes)
proximal leg weakness
emesis with exertion
sleep apnea
dysphagia
normal development and pregnancy
fhx significant for…
mom with exercise intolerance, fatigue, confusion, headaches, and fainting
sister with easy fatigue, severe sleep apnea, dysphagia, g-tube dependent, and needs assistance with daily living
mat uncle with h/o severe respiratory issues requiring trach at 18 y/o, spinal fusion due to severe scoliosis, severe weakness, emesis
MGM with hearing loss and DM

A

MELAS syndrome

heteroplasmy (m.3288A>G 58% in blood)

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16
Q

7 y/o Saudi Arabian boy with…
normal pregnancy to a G5P4 mom (positive consanguinity- parents are cousins)
developmental regression (lost ability to walk at 12 months, regained at 15 months, now wheelchair bound and cannot hold pen or utensil; first words occurred around 2 y/o but has lost all words)
Dystonia around 6 y/o
Dysarthria
Failure to thrive
Ptosis
Strabismus
All siblings are healthy and so are parents

A

Leigh Syndrome

heteroplasmy (m.10197G>A 65% in blood ND3)

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17
Q

2 y/o healthy African American boy with…
pancytopenia on routine CBC (decreased hemoglobin, retiulocyte count, leukocyte count, neurtophil, and platelets)
Recent viral infection
Decreased activity and appetite
Fatigue
Symptoms improved with blood transfusion
F/u labs show persistent pancytopenia
Bone marrow aspiration reveals sideroblastic anemia

A

Pearson Syndrome

heteroplasmy (72% blood)

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18
Q

13 y/o Puerto Rican boy with…
Hearing aides at age 6 for SNHL
Autism dx at 7 y/o
limited early childhood history (mother passed away from ovarian cancer when he was young)
In regular classes in school with 1:1 and modified assignments
Presented to ED with acute encephalopathy
Bilateral ptosis
Cerebellar ataxia
Short stature

A

Kearn Sayer Syndrome (KSS)

heteroplasmy (23% in blood)

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19
Q 
Female
9 months old had...
L side tremor, seizure lasting 1-2 minutes
Developmental regression
Poor feeding
Brain MRI with R thalamus changes
EEG showing EPC
11 months...
Feeding intolerance, fever, and significant transaminitis
Emesis, FTT leading to G-tube placement
18 months...
Seizures in good control
Rolls in both directions
Pushes up on her hands
Says "mama" and "dada" with meaning
Elevated lactate on UOA, CSF, and blood (x3)
A

POLG

20
Q

35 y/o Caucasian male presents with…
normal development
ptosis (noted during high school)
numbness and tingling in feet (began in his 20’s)
severe calf pain
Hashimotos thyroiditis
Dysphagia
Dyspnea
Restriction of abduction and adduction slow horizontal saccades with gaze evoked horizontal nystagmus on eye exam
Normal optic nerve and no retinal pigmentary changes
Exonal polyneuropathy, foreleg fasiculations, and involuntary movements on EMG?NCS
Negative Fhx

A

POLG (c.1399G>A; p.A467T)

21
Q

21 y/o male
friendly, outgoing, black belt in karate
multiple congenital anomalies noted at birth (sagittal synostosis, partial agenesis of the corpus callosum)
Fhx of father who had a twin who died in the neonatal period due to reported twin-to-twin transfusion syndrome, three miscarriages by his paternal grandmother, and a paternal cousin with multiple congenital anomalies (none of which overlap with the patient)
Normal karyotype at birth and in childhood

A

Duplication- small piece at the end of chromosome 21
Deletion- small piece at the end of chromosome 6
Unbalanced translocation

22
Q

28 y/o prima gravida presenting for high risk obstetrical care due to “suspected connective tissue disorder” and secondarily for fetus with “gastroschisis” - declined amnio but accepted cfDNA screening
Pt has a h/o lax joints, double jointedness, tall stature, and long limbs. Had been seen by a geneticist who raised suspicion for connective tissue disorder and referred to an expert, but pt did not follow-up

A

47,XXX for mother

46,XX for baby

23
Q

1 y/o female, previously healthy (normal birth and delivery, generally good health, normal growth and diet)
No dysmorphic features
Hepatomegaly found on routine pediatric visit
Late to sit up (8 months)
Not yet standing alone or walking (unusual in a 1 y/o)
Mild hypotonia
Referred to GI/liver service for evaluation

A

Storage diseases-
Lysosomal storage disorders (Gaucher, Niemann-Pick)
Glycogen storage diseases (liver type)

24
Q

7 month old female presents with extreme lethargy/barely responsive and hypoglycemia
Born at term, no problems in the new born nursery
Fed well, normal growth
Slept through the night, but often awoke for a feeding
Mild cold, didn’t eat well during the day and couldn’t be awakened the next morning so she was brought immediately to the ER
No dysmorphic features, low muscle tone, mild hepatomegaly on exam
No ketones in urine (which should be present with hypoglycemia)

A

MCAD

25
Q

8 month old boy presents because of developmental delays
Normal birth, initially did well
Some early weakness noted at 4 m/o
At 6 months, slumped over when sitting
Never tried to pull to stand, never rolled over
Less attentive in the coming months, but did startle to loud noises
Difficult to feed with dysphagia
No dysmorphic features
Poor muscle tone
Unusual eye movements
No hepatosplenomegaly

A

Tay-Sachs Disease

26
Q

10 y/o male presents to the ED with syncopal episodes
His mother reports that he has been experiencing these episodes more and more recently
During this episode he was playing tag with some of the other kids in the neighborhood, however he has had some episodes at home when he is not being active
She notes that her and her husband are getting a divorce
EKG during his hospital say shows a long QTc
His pregnancy and birth history are normal, however he failed his new born hearing screen and has bilateral profound sensorineural hearing loss
His mother notes that he is taking iron supplementation for anemia, but is otherwise a healthy child

A

Jervell and Lange-Nielsen Syndrome

27
Q 
17 y/o female with clear muscle weakness of unknown etiology
at 6 y/o had difficulties washing hair
at 8 y/o difficulties getting up from a chair
can walk slowly only for 15-20 minutes
has developed contractures and scoliosis
elevated CK (3000's)
26 y/o cousin who is wheelchair bound
parents are first cousins
A

Sarcoglyconopathy (Limb Girdle Muscular Dystrophy Recessive 5)

28
Q

24 m/o female
born to 29 y/o G2P1101->2 mom
decreased fetal movement and polyhydramnios
preeclampsia, HELLP syndrome
born via SVD after ROM at 34 weeks 5 days
Low 1 minute Apgar (6) but improved to good at 5 minutes (8)
intubated shortly after birth; extubated DOL48
severe hypotonia and weakness involving face; minimal antigravity movements
feeding intolerance
contractures of hips, knees, and ankles
MOC with hand grip and percussion myotonia (inability to relax muscle contracture)

A

Myotonic Dystrophy Type 1

110 CTG repeats (mosaic expansion)

29
Q

4 y/o female with history of motor milestone delays
sat and crawled 11 months; first steps 22 months, walked with Tredelenburg gait; ran at 3 y/o
seen by local neurologist for motor delays and was noted to have elevated CK (11000’s) and white matter changes on brain MRI despite normal cognitive development

A

Merosin Deficient Congenital Muscular Dystrophy (LAMA2 mutations)
compound heterozygous

30
Q

9 y/o female
initially diagnosed with likely congenital CMV
bilateral esotropia (s/p surgery at 2 y/o)
normal hearing
born with VSD that closed spontaneously
asthma diagnosed at 18 mo; outgrew during 3rd year of life
persistently elevated transaminase without liver disease
hypotonia, normal strength, no seizures
speech and cognitive delays
elevated CK (2230)

A

Muscular-Eye-Brain disease spectrum

LARGE gene

31
Q 
6 m/o female
microcephaly
global DD
cortical visual impairment
hand fisting
elevated transaminase
A

Muscle-Eye-Brain disease spectrum

POMT1 (alphadystroglycanopathy)

32
Q

8 y/o old female
initially presented with bilateral sensorineural hearing loss, tortuous retinal vessels with microaneurysms (Coat’s disease), normal development for age, normal neurologic/neuromuscular examinations; head US normal; TORCH titers negative at 8 months old
facial diplegia with slurred speech
Trendelenburg gait; Growers sign; increase in falls
doing excellent academically

A

Facio-Scapular-Humoral Disease

13 kb deletion; >48 kb deletion (this is what caused it- less residual repeats)

33
Q

6 y/o male evaluated by PCP for weight gain and noted elevated transaminases (ALT/AST)
Referred to GI locally who noted there was no significant liver disease, but CK was mildly elevated (586 and 625)
Referred to neurology who noted earlier fatigue/decreased endurance compared to peers; less agile than peers; occasional leg pain post-exercise
Physical Exam- normal strength in all muscle groups; normal DTRs; runs, hops, and jumps; negative Gowers sign
Mild increase in echogenicity on muscle US

A

Pompe Disease
GAA mutations
0 GAA enzymatic activity

34
Q

12 y/o male with 1 year history of mild motor decline (with decreased endurance, increased fatigue, decline in handwriting, chronic hip pain, mildly affected speech) and prior clinical diagnosis of “Mobious syndrome”
respiratory distress with tracheostomy at 1 mo-18 mo
dysphagia with G-tube feeds from 1 mo to 12 mo
hypotonia and weakness including facial weakness and bilateral ptosis (s/p 5 repairs due to recurrences)
walked at 12-14 mo; PT/OT d/c at 3 y/o
skateboarding and participating in sports
always some difficulties with stairs, hills, inclines, and other more difficult tasks
No bulbar symptoms or clear fluctuation
Positive 1 handed Growers
normal CK
muscle biopsy was non-diagnostic
electrodecrement with repetitive stimulation

A

MUSK related Congenital Myesthenic Syndrome

35
Q

4 y/o male presents with gait differences, difficulties with balance, and parasthesias
Mother to-walking since childhood; maternal grandfather and maternal aunt had similar symptoms, but very mild
MOC had abnormal EMG testing

A

Charcot-Marie-Tooth Type 1A

36
Q

5 y/o female with 9-12 month history of gait differences, increased falling, and fatigue
seen by general neurology who suspected peripheral neuropathy; EMG showed bilateral motor axonal neuropathy with normal sensory response
motor and cognitive milestones were on target (though MOC retrospectively noted slow progression of overpronation since pt started walking at 12 mo)
mild distal weakness of foot dorsiflexion and toe extension with preserved plantar flexion, inversion and eversion
mild intrinsic hand weakness of the FDI, ADM, and APB
mildly decreased DTRs
able to walk on toes but showed fatigue pattern with heel dip after 10 steps
difficulties with heel walking with quickly evolving foot drop
able to hop, can accelerate into run, one handed Growers
MOC with mild foot drop, resting tremor, toe-walked as a child s/p bracing
maternal grandfather with unusual gait (maybe foot drop, balance issues, thin quads/hamstrings, played tennis into late 70’s (currently 80)
maternal uncle with congenital arthrogryposis, non-ambulatory since 40’s, hearing loss in 50’s, above average IQ; daughter with congenital arthrogryposis, never walked, above average IQ

A

Charcot-Marie-Tooth Type 2C

TRPV4

37
Q 
Failure to thrive since birth
hypotonia and developmental delays
regression in motor skills at 6 months (loss of head control, loss of reach and grasp); developed arthrogryposis/contractures rapidly
loss of PO feeding ability
respiratory decompensation
A

Severe Demyelinating Charcot-Marie-Tooth Disease (Dejerine-Sottas Syndrome)
EGR2

38
Q

48 y/o male was identified to have a low-grade fever and enlarged spleen at routine PCP visit
blood work revealed elevated white blood cell count
referred to hem/onc

A

Chronic Myeloid Leukemia

due to t(9;22) with BCR-ABL1 fusion

39
Q

80 y/o female with history of CLL dx in 2009
Bone marrow biopsy showed hypercellular marrow with persistent chronic lymphocytic leukemia (NO morphologic or immunophenotypic evidence of large cell transformation OR significant dyspoiesis or an increased number of blasts)
H/o lung cancer dx in 1989 treated with chemo
Invasive breast ductal carcinoma dx 2015 treated with radiation therapy

A

Stimulated cells normal

Unstimulated cells with a complex karyotype with structural rearrangements

40
Q

38 y/o female presents to OB for first prenatal visit concerned about increased risk of Down Syndrome due to age
9 week post-last menstrual period NIPS was performed which showed genomic imbalances with gains and losses of nearly every chromosome

A

Occult malignancy- diffuse large B cell lymphoma

41
Q

4 y/o male presents with short stature, bilateral short thumbs (radial ray defects), anemia/pancytopenia, and cafe-au-lait spots
tetraradials noted on chromosome staining

A

Fanconi Anemia

42
Q

38 y/o female who does not have cancer and no fhx of cancer
Sister who died suddenly of a MI at age 41 after running a marathon- she was found to have had a pheochromocytoma on autopsy
Mother died at 45 y/o from complications of a surgical procedure

A

Conditions that were on the DDx include-
von Hippel Lindau Syndrome (note that sister’s age at dx fits and has variable expressivity)
MEN2 (though without MTC in the family this is less likely)
Hereditary PGL-Pheo Syndrome (sister’s age fits)
Sporadic pheochromocytoma

43
Q

35 y/o male with metastatic kidney cancer (tumor pathology was read as mixed, possibly papillary tumor; re-review was unsuccessful)
Mother and maternal aunt had hysterectomies at 40 y/o for unknown reasons
NO fhx of cancer, skin leiomyomas, retinal angiomas, or lung blebs/pneumothorax

A

Conditions that were on the DDx include-
Hereditary Leiomyomatosis Renal Cell Cancer (given aggressive tumor and fhx of hysterectomy make this more likely)
Hereditary Papillary Renal Carcinoma Syndrome (due to lack of clear pathology or hx skin leiomyomas make this likely)
Birt Hoge Dube (should be considered whenever pathology is complex, however this is less likely)
von Hippel Lindau (most common RCC gene, but typically linked to clear cell)
Sporadic kidney cancer

44
Q

12 month old male with strabismus due to a unilateral retinal mass- pathology report this was either unilateral retinalblastoma or retinal hamartoma
Normal developmental milestones
Fhx unremarkable

A 
Conditions on the DDx include-
Hereditary Retinoblastoma (RB1)- specific to unilateral retinalblastoma
Tuberous Sclerosis (TSC1/TSC2*)- specific to retinal hamartoma
45
Q

45 y/o female with multiple nevi, including a few small dysplastic nevi (notes Irish ancestry with personal history of excessive sun exposures and sunburns)
Father and paternal uncle died from pancreatic cancer in their 60’s (note they were both alcoholics)
Paternal grandmother with breast cancer at age 60
Paternal grandfather with colon cancer in 50’s

A

Conditions on the DDx include-
Lynch syndrome (two generations of GI cancers)
*FAMMM (personal hx of dysplastic nevi plus fhx of pancreatic cancer)
HBOC syndromes (less likely due to age at onset of breast and pancreatic cancers)
Sporadic cancer (environmental risk factors could explain all cancers)

46
Q

6 month old male with unilateral kidney mass (which could be early stage Wilms tumor or cystic nephroma)
No congenital birth defects or developmental delay
Father has a history of thyroidectomy at age 18 due to thyroid nodules, fhx otherwise negative

A

Conditions on the DDx include:
Familial Wilms’ Tumor (though less common to see it unilaterally, early diagnosis makes this more suspicious)
Beckwith-Weidmann Syndrome (less likely in the context of the absence of congenital anomalies)
*DICER1 Syndrome (very likely if mass is a cystic nephroma- father’s thyroid nodules would be consistent with this)
Li-Fraumeni syndrome (any abdominal tumor before 1 y/o is concerning for this)
Sporadic kidney mass (since it is unilateral and no fhx of renal masses)

47
Q

4 y/o female with bone marrow failure and acute myelogenous leukemia
History of frequent infections and some history of bone marrow failure (may have been intermittent)
Thumbs appear normal, but less reactive muscle tone on palms of hands bilaterally
Maternal great aunt with ovarian cancer age 65 y/o
Paternal grandmother with breast cancer age 40 y/o
No AJ ancestry

A

Conditions on the DDx include:
*Fanconi Anemia (bone marrow failure and childhood cancer plus decreased palmar muscle tone are all associated and HBOC on both sides makes more suspicious)
Familial AML (could be de novo since no fhx of blood cancers)
Li-Fraumeni Syndrome (early onset cancers - especially leukemia- is a feature)
Sporadic leukemia (most common cancer of childhood and most cases are sporadic)

ABGC Boards Review (14 decks)

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