Neuroembryology and Child Neurology Flashcards
Main embryonal layer giving rise to nervous system
ectoderm
this give rise to vertebral column
notochord
induces formation of neural plate from ectoderm and later signals differentiation of various cell types
notochord (a layer of mesodermal cells in contact with ectoderm)
process at which neural plate forms a structure known as neural tube
neurulation
neurulation occur at which week of gestation
3-6th wk of AOG
abnormal rostral fusion at the anterior pore leads to
anencephaly
abnormal caudal fusion at the posterior pore leads to
spina bifida
after neurulation, neural tube undergoes segmentation into 3 vesicles. what is this process called?
specification
3 vesicles formed from neural tube
prosencephalon
mesencephalon
rhombencephalon
Prosencephalon eventually becomes…
telencephalon
diencephalon
Telencephalon give rise to..
cerebral hemispheres
Diencephalon give rise to…
thalamus
hypothalamus
epithalamus
Mesencephalon give rise to…
midbrain
Rhombencephalon eventually becomes
myelencephalon
metencephalon
Peripheral nervous system (including autonomic ganglia) arise from…
neural crest cells
Neural crest cells give rise to….
peripheral nervous system
autonomic ganglia
chromaffin tissue of the adrenal medulla
melanocytes
Galactosemia mode of inheritance
Autosomal Recessive disorder
3 enzyme defects in galactosemia
galactose-1-phosphate uridyl transferase deficiency (GALT gene) galactokinase deficiency (GALK gene) urindine diphosphate galactose 4'epimerase deficiecy (GALE gene)
What is the most common cause of galactosemia?
galactose-1-phosphate uridyl transferase deficiency (GALT gene)
This type of galactosemia is associated with intellectual impairment.
galactose-1-phosphate uridyl transferase deficiency (GALT gene)
At first days of life, patient presents with feeding difficulties, vomiting, diarrhea and jaundice; with hepatomegaly, failure to thrive, lethargy and hypotonia; detection of reducing substances in the urine. What is the diagnosis and deficiency?
galactosemia (galactose-1-phosphate uridyl transferase deficiency (GALT gene - most common)
cataract in galactosemia results from…
accumulation of galactitol
Treatment of Galactosemia
Restriction of lactose and galactose
What are the late neurologic sequelae of galactosemia?
developmental delay
cognitive impairment
ataxia
tremor
Pyruvate Dehydrogenase is responsible for..
oxidative decarboxylation of pyruvate to carbon dioxide and acetyl coenzyme A
Pyruvate dehydrogenase complex have 3 main components. Which is the most common?
E1 (alpha and beta subunits) - most common;
E2 and E3
E1 defect is inherited via..
X-linked fashion
E2 and E3 defect are inherited via…
autosomal recessive
Management of PDH deficiency
ketogenic diet
thiamine supplementation
Patient presents with severe neonatal acidosis, with episode of progressive ataxia, nystagmus, dysarthria, lethargy, weakness, areflexia, hypotonia and psychomotor retardation. Diagnosis?
Pyruvate dehydrogenase deficiency
Majority of patients with neurofibromatosis 1 has severe developmental delay, true or false?
False. Majority of patients with NF1 have normal cognition or mild developmental delay
An infant with epileptic encephalopathy is brought for evaluation. He has microcephaly and prominent developmental delay. On cerebrospinal fluid (CSF) analysis, it was noticed that the level of glucose was 30 mg/dL while the serum glucose was 112 mg/dL. Other CSF tests are normal. Diagnosis?
Glucose Transporter Type 1 (GLUT-1) Deficiency
GLUT-1 is a membrane bound protein that is encoded by..
SLC2A1 gene on chromosome 1p34.2
SLC2A1 mutation is inherited via..
autosomal dominant pattern
Chromosomal Aberration commonly seen in patients with encephalocoele
Trisomy 13 and Trisomy 18
What is the deficiency in phenylketonuria?
Deficiency in phenylalamine hydroxylase
What is the function of phenylalamine hydroxylase?
converts phenylalamine to tyrosine (thus deficiency leads to phenylalamine accumulation)
What is responsible for the musty odor of sweat and urine in PKU patients?
phenylacetic acid
What is the mode of inheritance of PKU?
Autosomal recessive
Baby presented with seizure. He has significant developmental delay, is hypotonic, has failure to thrive, and is microcephalic. His urine has a musty odor. Diagnosis and deficiency?
Phenylketonuria (deficiency in phenylalamine hydroxylase)
A 1-week-old baby was admitted to the hospital with altered sensorium, opisthotonic posture, and abnormal movements. He is now intubated, comatose, and began having seizures last night. A specimen of his urine smells like maple syrup. Diagnosis and Deficiency?
maple syrup urine disease (branched chain alpha-ketoacid dehydrogenase complex deficiency)
What is the most common and severe form of maple syrup urine disease?
Classic Type
Define sacral agenesis
absence of the sacrum
Define meningocele
isolated protrusion of the meninges into a bony defect within the vertebral column
Define myelomeningocele
protrusion of potentially all layers of intraspinal contents through a bony defect: spinal cord, nerve roots, and meninges. Also known as dysraphism or rachischisis.
Define diastomyelia
splitting of the spinal cord into two portions by a midline septum
Define diplomyelia
duplication of the spinal cord. presence of two central canals each surrounded by gray and white matter as in a normal spinal cord
Single or multiple cardiac rhabdomyomas occur in more than half of patients with tuberous sclerosis complex . It undergoess malignant transformation. True or False?
False. The majority of them regress over time, and they are often clinically irrelevant over the long term.
Define Renal angiomyolipomas in TSC
benign tumors consisting of vessels, smooth muscle, and fat. this can be single or bilateral and multiple.
Lymphangiomyomatosis most common in…
female patients with TSC
A newborn baby is being evaluated for encephalopathy in the setting of metabolic acidosis and hyperammonemia. There is also ketoacidosis and elevated blood propionic acid and glycine levels with normal methylmalonic acid levels. Diagnosis and defect?
Propionic acidemia (deficiency of propionyl-CoA carboxylase)
What is the role of propionyl coA carboxylase?
participates in the carboxylation of propionyl-CoA to D- methylmalonyl-CoA. It requires biotin as co-enzyme.
Tuft of hair over the lower lumbar region
Spina bifida occulta
Define spina bifida occulta
Defect in the bony components along the posterior aspect of the vertebral column.
The presence of a tuft of hair, associated with underlying spina bifida occulta, does not necessarily imply impending cognitive or motor delay. True or False?
True
Define occult spinal dysraphism
associated neurologic dysfunction in a child with a tuft of hair over the lumbar region but with no other evidence of NTD
3-year-old boy is brought for follow-up evaluation. He has had developmental delay and intellectual impairment since early in life and has developed torticollis and spasticity in his limbs. He also has a history of seizures and aggressive behavior. His mother reports that he began biting himself to the point of bleeding and constantly self-inflicts injuries. He has had kidney stones and hyperuricemia. Diagnosis and defect?
Lesch–Nyhan disease
inherited in an X- linked fashion
deficiency of the enzyme hypoxanthine guanine phosphoribosyltransferase
What is the role of hypoxanthine guanine phosphoribosyltransferase?
It participates in the salvage pathway of purine metabolism. It is encoded by the gene HPRT1 on chromosome Xq26, and deficiency of this enzyme leads to the accumulation of purines with their subsequent conversion to uric acid.
A 10-month-old baby is brought for follow-up. He has a significant developmental delay with psychomotor retardation and failure to thrive. On examination, he also has a cherry-red spot on retinal examination and hepatosplenomegaly. The Filipin test is not abnormal. Bone marrow specimen demonstrates foam cells. Diagnosis and defect?
Niemann–Pick type A autosomal recessive
acid sphingomyelinase deficiency
What is accumulated in Niemann-Pick Type A?
Accumulation of Sphingomyelin
Niemann-Pick Type B Manifestation
Does not affect the CNS, presenting with hepatosplenomegaly and interstitial lung disease
A 6-year-old girl is evaluated for progressive neurologic deterioration, including vertical gaze apraxia, ataxia, and spasticity. A Filipin test (which demonstrates impaired ability of cultured fibroblasts to esterify cholesterol) was abnormal. Diagnosis and Defect?
Niemann–Pick type C
autosomal recessive disorder defects in intracellular cholesterol circulation
What is accumulated in Niemann-Pick Type C?
Accumulation of cholesterol in perinuclear lysosomes
What is the gene defect in NP Type C?
NPC1 located on Chromosome 18q11
Laboratory examinations in NTDs
serum maternal α-fetoprotein level is elevated
elevated amniotic α-fetoprotein
Elevations in amniotic fluid acetylcholinesterase levels
ultrasonography can also be used to detect NTDs
4-year-old boy presents with progressive neurologic deterioration. The onset of his symptoms was around the age of 1 year with hypotonia and inability to walk. Vision and hearing loss were subsequently noticed. At this point, he is unable to walk and has generalized spasticity and cognitive regression. Brain MRI shows T2 hyperintense signal changes in the periventricular and subcortical white matter sparing the U fibers. Diagnosis and defect?
Metachromatic leukodystrophy
autosomal recessive disorder deficiency of the lysosomal enzyme arylsulfatase A
What is accumulated in metachromatic leukodystrophy?
Accumulation of sulfatide resulting in demyelination of central and peripheral nervous system
What is the role of arylsulfatase A?
responsible for the breakdown of cerebroside sulfate (a major myelin glycoprotein)
What is the definition of Chiari I malformation?
displacement of the cerebellum and cerebellar tonsils downward through the foramen magnum
Chiari II malformation (Arnold–Chiari malformation)?
displacement of the cerebellar vermis and tonsils in association with a myelomeningocele.
Syringomyelia definition
fluid-filled cavity within the spinal cord that is SEPARATE from the central canal and lined by gliotic tissue
Definition of Chiari III malformation
cerebellar herniation into a cervical or occipital encephalocele.
Define Chiari IV malformation
cerebellar hypoplasia
Where is molar tooth sign observed?
- Joubert syndrome
- COACH syndrome (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis)
A 29-year-old man is admitted with an acute ischemic stroke. He has a cardiomyopathy of uncertain cause, severe hypertension, and end-stage renal disease. He reports that his initial symptoms consisted of a burning sensation in his feet. He has three brothers who died of end-stage renal disease. When he was being worked up for his renal disease, a biopsy was obtained and showed birefringent lipid deposits in the glomeruli, and electron microscopy showed membrane-bound lamellar deposits. Diagnosis and defect?
Fabry’s disease , X-linked disorder, deficiency of the enzyme α-galactosidase
What is the gene involved n Adrenoleukodystrophy?
ABCD1 Gene (Peroxisomal membrane transporter- ATP-binding Cassette Transporter superfamily)
What is the MRI Finding in Adrenoleukodystrophy?
confluent T2 hyperintensities (hypointense on T1) in the white matter affecting predominantly the parieto-occipital regions and the posterior corpus callosum
What is the triad and defect in Kearns-Sayre Syndrome?
progressive external ophthalmoplegia, onset before the age of 20 years, and at least one of the following: short stature, pigmentary retinopathy, cerebellar ataxia, heart block, and increased CSF protein (>100 mg/dL)
single large-scale mitochondrial DNA deletion
Describe pathologic features of Kearne-Sayre Syndrome
muscles with ragged red fibers and white matter showing spongy myelinopathy without gliosis or macrophage reactions
Variable degrees of penetrance and expressivity are features of which particular pattern of inheritance?
a. Autosomal dominant
b. Autosomal recessive
c. X-linked recessive
d. Mitochondrial
a. Autosomal dominant
What do you call the state in which normal mitochondria exist alongside mutant mitochondria in the cell, thereby allowing a potential lethal mutation to persist?
a. Homoplasmy
b. Heteroplasmy
c. Lyon phenomenon
d. Replicative segregation
b. Heteroplasmy
In which of the following scenarios will you consider evaluating for a hereditary metabolic disease?
a. A neonate with HIE presenting with intractable seizures within the first week of life
b. Developmental delay in a 10-month old child with history of prematurity
c. Developmental regression and myoclonic seizures in a 10 y/o with history of measles infection at 8 months of age
d. Intractable seizures and developmental regression in a 2 y/o with an unremarkable birth history
d. Intractable seizures and developmental regression in a 2 y/o with an unremarkable birth history
A term, male, newborn presented with jitteriness within the first 24 hours of life. By the second day of life, he started to have intractable convulsions. There is no history of HIE. You suspect a hereditary metabolic disease. A trial of 100 mg of pyridoxine results in cessation of seizures. A mutation in what gene is responsible for this condition?
a. GALT
b. ALDH7A1
c. BH4
d. GLB1
b. ALDH7A1
Which of the following statements is TRUE about Maple Syrup Urine Disease (MSUD)?
a. The condition results in depletion of leucine, isoleucine and valine in plasma and urine
b. The pattern of inheritance is either autosomal recessive or X-linked recessive
c. Accumulation of α-keto acids and secondary accumulation of α-hydroxybutyric acid occurs
d. MSUD invariably results in coma and death within the second to fourth week of life
c. Accumulation of α-keto acids and secondary accumulation of α-hydroxybutyric acid occurs
Which of the following diseases would present with a true cherry-red macular spot?
a. Infantile Gaucher Disease
b. Neuronal ceroid lipofuscinosis, late infantile form
c. Krabbe Disease
d. Infantile GM1 gangliosidosis
d. Infantile GM1 gangliosidosis
Which among these leukodystrophies presents with symmetric parieto-occipital white matter abnormalities on neuroimaging?
a. Canavan Disease
b. Krabbe Disease
c. Alexander disease
d. Pelizaeus-Merzbacher Disease
b. Krabbe Disease
You are evaluating an 8 y/o male for spastic diplegia. He initially presented at 11 months of life with pendular nystagmus then subsequently developed titubation. He has occasional generalized seizures. On exam, you note that he has cerebellar ataxia and has mild cognitive delay. Funduscopy revealed optic atrophy. He has an older brother with a similar condition. Brain MRI showed extensive, symmetrical white matter abnormalities. What is the likely diagnosis?
a. Metachromatic Leukodystrophy
b. Adrenoleukodystrophy
c. Pelizaeus-Merzebacher Disease
d. Krabbe Disease
c. Pelizaeus-Merzebacher Disease
A 4 y/o boy presents with coarse facies, short stature and organomegaly. You suspect that he has a mucopolysaccharidosis. On family history, you identify that the mode of inheritance is likely X-linked. On examination of the eyes, you do not observe corneal clouding. Which enzyme is deficient in this form of MPS?
a. Iduronate sulfatase
b. Heparan N-sulfatase
c. α- L- Iduronidase
d. Galactose 6-sulfatase
a. Iduronate sulfatase
A 2 y/o girl presents with growth stunting, microcephaly, global developmental delay and retinitis pigmentosa. She also has ataxia. You suspect that she has Cockayne syndrome. Which of the following skin findings do you expect to find?
a. Telangiectasia
b. Icthyosis
c. Angiokeratoma
d. Photosensitivity
d. Photosensitivity
A 15 month old boy was brought to the ER for suspected child abuse after he presented with new-onset seizures and plain Head CT scan revealed intracerebral hemorrhage. His anthropometric parameters indicate that he has failure to thrive. X-rays of the long bones showed metaphysial spurs. You also noticed that his hair is very dry and kinky. You suspect that he has a genetic metabolic disorder. What genetic mutation is responsible for this child’s condition?
a. PEX1 mutation
b. ASAH1 mutation
c. ATP7A mutation
d. OCRL1 mutation
c. ATP7A mutation
- Which of the following Brain MRI findings is consistent with Metachromatic Leukodystrophy?
a. Symmetric central white matter hyperintensities with sparing of the subcortical arcuate fibers
b. Abnormal hyperintensity in the globus pallidus, thalamus, internal capsule and diffuse white matter hyperintensity in the cortex
c. Abnormal hyperintensity of the cerebral peduncles with hypointensity in the thalami
d. Posterior periventricular white matter hyperintensities extending across the splenium of the corpus callosum
a. Symmetric central white matter hyperintensities with sparing of the subcortical arcuate fibers
- Funduscopic examination of a 15 y/o male with hepatosplenomegaly reveals the presence of crescentric, rusty-brown discoloration near the limbus of the cornea. What laboratory findings do you expect?
a. Elevated serum copper
b. Low serum ceruloplasmin
c. Low urinary copper
d. Low serum ferritin
b. Low serum ceruloplasmin
A 17 y/o female presents with progressive spasticity, gait difficulty and dystonia. She also has bulbar symptoms. Brain MRI findings reveal hypointensities of the pallidum bilaterally with a central high signal. The most common defects are found in which gene?
a. ATP7A
b. PANK2
c. ATP7B
d. CLN3
b. PANK2
Which type of movement disorder is typically seen in Lesch-Nyhan Syndrome?
a. Dystonia
b. Hemiballismus
c. Parkinsonism
d. Choreoathetosis
d. Choreoathetosis
A 30 y/o male comes to your clinic due to abnormal Head CT scan findings. He had a history of head trauma and had a Head CT scan which showed bilateral calcifications in the basal ganglia and cerebellum. He is otherwise asymptomatic and neurologic examination is normal. What is the most likely diagnosis?
a. Wilson Disease
b. Aceruloplasminemia
c. Fahr Disease
d. Neurodegeneration with Brain Iron Accumulation
c. Fahr Disease
An 8 y/o male was seen in the OPD for progressive quadriparesis with dysarthria. On exam you also note bronzing of the skin of the hands. What would be the most appropriate laboratory test to order to diagnose this patient?
a. Serum ceruloplasmin
b. Very long chain fatty acids
c. Uric acid
d. Plasma lactate
b. Very long chain fatty acids
Which of the following statements is TRUE about female carriers of the ABCD1 mutation?
a. Female carriers show typical signs and symptoms of ALD
b. Female carriers are all asymptomatic
c. Female carriers may present with myeloneuropathy
d. Female carriers present only with adrenal insufficiency and no neurologic symptoms
c. Female carriers may present with myeloneuropathy
A 20 y/o male was brought to the ER for acute stroke. He is tall with a slender habitus, scoliosis and arachnodactyly. He also has intellectual disability. You do an evaluation for hypercoagulable state. What will you likely find?
a. Low protein C
b. Elevated protein C
c. Low plasma methionine
d. Elevated homocysteine
d. Elevated homocysteine
A 16 y/o male came to the OPD for consult due to intermittent sharp pain and abnormal sensation in the extremities which occur after vigorous exercise. On further history, you also elicit that he also experiences the same painful episodes when he has fever. On exam, he has periumbilical angiokeratomas. What is the deficient enzyme in this condition?
a. Ceramide trihexoside
b. Alpha galactosidase A
c. Ceramidase
d. Glucocerebrosidase
b. Alpha galactosidase A
Early and progressive macrocephaly is a key feature of which of the following?
a. Alexander Disease
b. Krabbe Disease
c. Zellweger Disease
d. Alpers Disease
a. Alexander Disease
What are the neuropathologic features seen in POLG mutation?
a. Dysgenesis of the cerebral cortex and white matter degeneration
b. Destructive changes in the white matter, particularly in the frontal lobes
c. Striatal and cerebellar calcifications
d. Atrophy of cerebral and cerebellar cortex with fibrous gliosis
d. Atrophy of cerebral and cerebellar cortex with fibrous gliosis
Which among these diseases present with predominantly gray matter involvement?
a. Canavan disease
b. Sandhoff disease
c. Pelizaeus-Merzbacher disease
d. Krabbe disease
b. Sandhoff disease
Which among these childhood-onset leukodystrophies has the better prognosis, with chance of survival to adulthood?
a. Metachromatic Leukodystrophy
b. Canavan disease
c. Pelizaeus-Merzbacher disease
d. Adrenoleukodystrophy
c. Pelizaeus-Merzbacher disease
A young female presents with migraine-like headaches and focal seizures. She also developed acute onset loss of vision. Brain MRI showed bilateral occipital strokes. What will be your primary diagnosis in this case?
a. Homocystinuria
b. Fabry disease
c. MELAS
d. Leigh disease
c. MELAS
A 25 y/o male presented with a slowly progressive spasticity, dystonia, bulbar symptoms and cognitive decline over a period of 9 years. Brain MRI revealed the classic “eye-of-the-tiger sign.” What is the mode of inheritance of this condition?
a. Autosomal dominant with variable penetrance
b. Autosomal recessive
c. X-linked recessive
d. Mitochondrial
b. Autosomal recessive
Ocular apraxia is seen in which of the following diseases?
a. Niemann-Pick Disease
b. Cockayne syndrome
c. Sanfilippo mucopolysaccharidoses
d. Mannosidosis
a. Niemann-Pick Disease
Developmental delay is not observed in this type of mucopolysaccharidosis:
a. MPS I
b. MPS II
c. MPS III
d. MPS IV
d. MPS IV
Accumulation of the glycosaminoglycan, dermatan sulfate, is seen in all of the following types of MPS EXCEPT in:
a. MPS I
b. MPS II
c. MPS III
d. MPS VI
c. MPS III
Urinary sialic acid excretion is increased in which type of oligosaccharidoses?
a. Mucolipidosis II
b. Mucolipidosis IV
c. Mannosidosis
d. Aspartylglucosaminuria
a. Mucolipidosis II
What is the mode of inheritance of pyruvate dehydrogenase deficiency?
X-linked (most common)
Autosomal recessive (least common)
In the electron transport chain, this complex is most often disordered leading to lactic acidosis A. I B. II C. III D. IV
D. Complex IV - Cytochrome c oxidase
The first indication of disordered nervous system function A. Hearing deficit B. Vision loss C. Seizure D. Motor delay
C. Seizure
Identify the INCORRECT statement
A. MSUD is a branched-chain aminoacidopathy
B. The deficient enzyme in MSUD is alpha ketoacid dehydrogenase
C. There is an accumulation of valine, isoleucine, lysine
D. Treatment includes peritoneal dialysis
C. There is an accumulation of valine, isoleucine, lysine
Accumulation of valine, isoleucine, leucine
One of the most common cause of neonatal seizure A. Hypoglycemia B. Hyponatremia C. Hypocalcemia D. Hypokalemia
C. Hypocalcemia
Sphingolipidoses most common seen in A. Neonate B. Infant C. Toddler D. Adolescent
B. Infant
Based from Neonatal Screening in New England, which is the most common metabolic disorders among neonates?
A. Biotinidase Deficiency
B. Phenylketonuria
C. VLC acyl coA Dehydrogenase
D. Galactosemia
B. Phenylketonuria
What are the 2 Inheritable Metabolic Defects turn positive with Benedict Reaction?
- Galactosemia
2. Fructose Intolerance
What are the 3 Inheritable Metabolic Defects turn positive with Nitroprusside Reaction?
- Tyrosinemia
- Homocystinuria
- Cystinuria
DNPH (+)
Benedict Reaction (-)
Nitroprusside Reaction (-)
Ferric Chloride: Green
A. Phenylketonuria B. Maple Syrup Urine Disease C. Tyrosinemia D. Histidinemia E. Propionic Acidemia
A. Phenylketonuria
Green Phenylketonuria
DNPH (+)
Benedict Reaction (-)
Nitroprusside Reaction (-)
Ferric Chloride: Navy Blue
A. Phenylketonuria B. Maple Syrup Urine Disease C. Tyrosinemia D. Histidinemia E. Propionic Acidemia
B. Maple Syrup Urine Disease
Navy Blue MSUD
DNPH (+)
Benedict Reaction (-)
Nitroprusside Reaction (-)
Ferric Chloride: Purple
A. Phenylketonuria B. Maple Syrup Urine Disease C. Methylmalonic Acidemia D. Propionic Acidemia E. C&D
E. C&D
DNPH (+)
Benedict Reaction (-)
Nitroprusside Reaction (+)
Ferric Chloride: Pale Green (Transient)
A. Phenylketonuria B. Maple Syrup Urine Disease C. Tyrosinemia D. Histidinemia E. Propionic Acidemia
C. Tyrosinemia
DNPH (+)
Benedict Reaction (-)
Nitroprusside Reaction (-)
Ferric Chloride: Green-Brown
A. Phenylketonuria B. Maple Syrup Urine Disease C. Tyrosinemia D. Histidinemia E. Propionic Acidemia
D. Histidinemia
DNPH (-)
Benedict Reaction (-)
Nitroprusside Reaction (+)
Ferric Chloride: (-)
A. Homocystinuria B. Cystinuria C. Galactosemia D. Fructose Intolerance E. A&B
E. A&B
DNPH (-)
Benedict Reaction (+)
Nitroprusside Reaction (-)
Ferric Chloride: (-)
A. Homocystinuria B. Cystinuria C. Galactosemia D. Fructose Intolerance E. C&D
E. C&D
Neurofibromatosis 1 or 2?
Optic Glioma
NF 1
Neurofibromatosis 1 or 2?
Bilateral Vestibular Schwannoma
NF 2
Neurofibromatosis 1 or 2?
Meningioma
NF 2
Neurofibromatosis 1 or 2?
Phaeochromocytoma
NF 1
Neurofibromatosis 1 or 2?
Merlin Gene, Chromosome 22
NF 2
Neurofibromatosis 1 or 2?
Neurofibromin, Chromosome 17
NF 1
Neurofibromatosis 1 or 2?
Neurofibromas
NF 1
Neurofibromatosis 1 or 2?
Lisch nodules
NF 1
Neurofibromatosis 1 or 2?
Posterior Subcapsular Cataract
NF 2
Which of the following does not cause Macroencephaly?
A. Alexander Diseases
B. Aicardi Syndrome
C. Canvan Disease
D. Tay-Sach’s Disease
B. Aicardi Syndrome
What is the primary deficiency in Tay-Sach’s Disease?
A. Beta Galactosidase B. N-Acetylhexosaminidase A subunit C. N-Acetylhexosaminidase B subunit D. Arylsulfatase A E. Alpha-Galactosidase
B. N-Acetylhexosaminidase A subunit
What is the primary deficiency in Metachromatic Leukodystrophy?
A. Beta Galactosidase B. N-Acetylhexosaminidase A subunit C. N-Acetylhexosaminidase B subunit D. Arylsulfatase A E. Alpha-Galactosidase
D. Arylsulfatase A
What is the primary deficiency in GM-1 Gangliosidosis?
A. Beta Galactosidase B. N-Acetylhexosaminidase A subunit C. N-Acetylhexosaminidase B subunit D. Arylsulfatase A E. Alpha-Galactosidase
A. Beta Galactosidase
What is the primary deficiency in Fabry disease?
A. Beta Galactosidase B. N-Acetylhexosaminidase A subunit C. N-Acetylhexosaminidase B subunit D. Arylsulfatase A E. Alpha-Galactosidase
E. Alpha-Galactosidase
What is the primary deficiency in Sandhoff disease?
A. Beta Galactosidase B. N-Acetylhexosaminidase A subunit C. N-Acetylhexosaminidase B subunit D. Arylsulfatase A E. Alpha-Galactosidase
C. N-Acetylhexosaminidase B subunit
Which of the following diseases has deficiency on Galactocerebrosidase?
A. Krabbe Disease B. Gaucher Disease C. Niemann-Pick Type A D. Niemann Pick Type C E. Farber Disease
A. Krabbe Disease
Which of the following diseases has deficiency on Glucocerebrosidase?
A. Krabbe Disease B. Gaucher Disease C. Niemann-Pick Type A D. Niemann Pick Type C E. Farber Disease
B. Gaucher Disease
Which of the following diseases has deficiency on Sphingomyelinase?
A. Krabbe Disease B. Gaucher Disease C. Niemann-Pick Type A D. Niemann Pick Type C E. Farber Disease
C. Niemann-Pick Type A
Which of the following diseases has deficiency on Cholesterol Esterification?
A. Krabbe Disease B. Gaucher Disease C. Niemann-Pick Type A D. Niemann Pick Type C E. Farber Disease
D. Niemann Pick Type C
Which of the following diseases has deficiency on Ceramidase?
A. Krabbe Disease B. Gaucher Disease C. Niemann-Pick Type A D. Niemann Pick Type C E. Farber Disease
E. Farber Disease
Which does not belong to the following?
A. Tay-Sach’s Disease
B. Sandhoff Disease
C. Activator Deficiency
D. Krabbe Disease
D. Krabbe Disease
A to C are examples of GM2 Gangliosidosis
Which does not present with Cherry Red Macular Spot?
A. Tay-Sach’s Disease B. Sandhoff Disease C. GM1- Gangliosidosis D. Sialidosis E. Krabbe Disease
E. Krabbe Disease
Which of the following presents with Cherry Red Macular Spot?
A. Adrenoleukodystrophy B. Metachromatic Leukodystrophy C. Alexander Disease D. Pelizaus-Merzbacher Leukodystrophy E. Zellweger Encephalopathy
B. Metachromatic Leukodystrophy
What is the hallmark of metabolic diseases that affect CNS in infancy?
A. Seizures B. Feeding difficulties C. Developmental Delay or Regression D. Hypotonia E. Vomiting episodes
C. Developmental delays (failure to achieve psychosensorimotor milestones or regression of preciously attained behaviors)
Which of the following has an age of onset of 5-10yrs old?
A. Tay-Sach’s Disease B. Gaucher Disease C. Alper’s Disease D. Krabbe Disease E. Schilder Disease
E. Schilder Disease
Which of the following is inherited via sex-linked recessive?
A. Pelizaeus-Merzbacher Disease B. Tay-Sach’s Disease C. Niemann-Pick Type A D. Subacute Necrotizing Encephalopathy E. Metachromatic Leukodystrophy
A. Pelizaeus-Merzbacher Disease
ALL are ingerited via autosomal recessive except Pelizaeus-Merzbacher Disease
Which is seen mostly among Jewish?
A. Krabbe Disease B. Gaucher Disease C. Tay-Sach’s Disease D. Metachromatic Leukodystrophy E. Pelizaus-Merzbacher Disease
C. Tay-Sach’s Disease
Which of the following may survive up to adult life?
A. Krabbe Disease B. Gaucher Disease C. Tay-Sach’s Disease D. Metachromatic Leukodystrophy E. Pelizaus-Merzbacher Disease
E. Pelizaus-Merzbacher Disease
Which among the following does not develop brain enlargement?
A. Tay-Sach’s Disease B. Metachromatic Leukodystrophy C. Spongy Degeneration D. Tay-Sach’a Disease E. Alper’s Disease
E. Alper’s Disease
Which of the following develops Microencephaly?
A. Tay-Sach’s Disease
B. Metachromatic Leukodystrophy
C. Canavan Disease
D. Alper’s Disease
D. Alper’s Disease
Which of the following does not develop eye changes?
A. Niemann-Pick Disease B. Tay-Sach’s Disease C. Gaucher Disease D. Schilder Disease E. Spongy Degeneration
C. Gaucher Disease
A. Niemman Pick and B. Tay-Sach’s present with optic atrophy and Cherry red spots
D.Schilder Disease deveops optic neuritis and optic atrophy
E. Spongy degeneration presents with optic atrophy and blindness
ALL of these rarely manifest seziures except ___ since it presents with Tonic Spasms
A. Metachromatic Leukodsytrophy
B. Niemann-Pick Disease
C. Gaucher Disease
D. Krabbe Disease
D. Krabbe Disease
Which of the following will present initially with flaccid paralysis then spastic paralysis. Later on, they will develop hyperacusis with myoclonus?
A. Niemann-Pick Disease B. Tay-Sach’s Disease C. Gaucher Disease D. Schilder Disease E. Spongy Degeneration
B. Tay-Sach’s Disease
Which of the following will present with retroflexion of the head and dementia, strabismus, bulbar palsy and spastic paralysis?
A. Niemann-Pick Disease B. Tay-Sach’s Disease C. Gaucher Disease D. Schilder Disease E. Spongy Degeneration
C. Gaucher Disease
Which of the following will present with combined upper and lower motor neuron signs with bulbar palsy, blindness, deafness and dementia?
A. Niemann-Pick Disease B. Metachromatic Leukodystophy C. Gaucher Disease D. Schilder Disease E. Spongy Degeneration
B. Metachromatic Leukodystophy
Which of the following will present with pendular nystagmus, titubation of the head and other cerebellar signs early in childhood?
A. Niemann-Pick Disease B. Metachromatic Leukodystophy C. Gaucher Disease D. Schilder Disease E. Pelizaus-Merzbacher Disease
E. Pelizaus-Merzbacher Disease
Among these Mucopolysaccharidoses, which of the following has normal intelligence?
A. MPS I (Hurler)
B. MPS II (Hunter)
C. MPS III (Sanfilippo)
D. MPS IV (Morquio)
D. MPS IV (Morquio) together with
MPS VI (Maroteaux-Lamy disease)
—> NORMAL Intelligence
Among these Mucopolysaccharidoses, has deficiency on alpha-L-Iduronidase?
A. MPS I (Hurler)
B. MPS II (Hunter)
C. MPS III (Sanfilippo)
D. MPS IV (Morquio)
A. MPS I (Hurler)
Among these Mucopolysaccharidoses, has deficiency on Iduronate Sulfatase?
A. MPS I (Hurler)
B. MPS II (Hunter)
C. MPS III (Sanfilippo)
D. MPS IV (Morquio)
B. MPS II (Hunter)
Among these Mucopolysaccharidoses, has accumulation of Heparan Sulfate only?
A. MPS I (Hurler)
B. MPS II (Hunter)
C. MPS III (Sanfilippo)
D. MPS IV (Morquio)
C. MPS III (Sanfilippo)
Neuronal + Skeletal Abnormalities ===>
A. Mucopolysacharidoses
B. Neuronal Ceroid Lipofuscinoses
C. Organic Acidemia
D. Mucolipidoses
A. Mucopolysacharidoses
ALL Mucopolysacharidoses are inherited via ____ except ______ which is inherited via _______.
A. X-linked recessive; Sanflippo; Autosomal Recessive
B. X-linked recessive; Hunter; Autosomal Recessive
C. X-linked recessive; Hurler; Autosomal Recessive
D. Autosomal Recessive; Hunter; X-linked Recessive
E. Autosomal Recessive; Hurler; X-linked Recessive
D. Autosomal Recessive; Hunter; X-linked Recessive
Which of the following Inherited Metabolic Disease of Infancy does not present with Abolished tendon reflex with Definite Babinski sign?
A. Metachromatic Leukodystrophy
B. Krabbe Leukodystrophy
C. Leigh Disease
D. Tay-Sach Disease
D. Tay-Sach Disease(page 985)
TaySach’s presents with Acoustic Obligatory Startle
The rest presents with involvement of peripheral nerves in conjunction with lesions of CNS.
Peculiar Eye Movements
Pendular Nystagmus
Head Rolling
3 diseases:
Pelizaues-Merzbacher Disease
Leigh Disease
Lesch-Nyhan hyperuricemia
Trismus
Strabismus
Opisthotonus
3 diseases
Krabbe
Alper Disease
Gaucher Disease
Intractable seizures and generalized or multifocal myoclonus
A. Alper Disease
B. Cannavan disease
C. tay-Sach Disease
D. Gaucher Diseases
A. Alper Disease
Which of the following may present Visceromegaly?
A. Tay-Sach’s Disease
B. Gaucher Disease
C. Leigh Disease
D. Sandhoff Disease
B. Gaucher Disease
Which of the following does not present Visceromegaly?
A. Niemann-Pick Disease B. Gaucher Disease C. Leigh Disease D. Pompe Disease E. Farber Disease
C. Leigh Disease
Which of the following present with neurologic disease with involvement of predominantly gray matter?
A. Tay-Sach’s Disease B. Metachromatic Leukodystrophy C. Niemann Pick Disease D. Adrenoleukodystrophy E. Pelizaeus-Merzbacher Disease
A. Tay-Sach’s Disease
Which of the following present with neurologic disease with involvement of predominantly white matter?
A. Tay-Sach’s Disease B. Metachromatic Leukodystrophy C. Niemann Pick Disease D. Leigh Diseaae E. Sandhoffr Disease
B. Metachromatic Leukodystrophy
Which of the following may present with Corneal Opacification?
A. Tay-Sachs Disease B. Sandhoff Disease C. Gaucher Disease D. GM1 Gangliosidosis E. Krabbe Leukodystrophy
D. GM1 Gangliosidosis
Which may present with multiple arthropathoes and raucous dysphonia?
A. Fabry Disease
B. Farber Disease
C. Gaucher Disease
D. Tay-Sachs Disease
B. Farber Disease
Most of the inherited metabolic diseases are inherited via Autosomal Recessive except ___
Adrenoleukodsytrophy Hunter Disease (MPS II) Ornithine transcarbamylase Deficiency Fabry Disease Lesch-Nyhan Syndrome
Your X is so LA-HOF!
Which of the following statements about NF1 Management is correct?
A. Current consensus guidelines recommend routine baseline neuroimaging
B. Neurofibromas of the peripheral nerves should be removed
C. Optic gliomas are followed clinically without treatment in asymptomatic children
D. PET scanning is not useful in distinguishing malignant peripheral nerve sheath tumors from plexiform neurofibromas
C. Optic gliomas are followed clinically without treatment in asymptomatic children
Explanation;
- Malignant peripheral nerve sheath tumor must be removed
- PET scanning is useful in distinguishing
Which of the following statements about TSC is correct?
A. Mutation in TSC 1 gene carries a higher risk for cognitive impairment
B. Diagnosis of definite TSC cannot be based on skin findings alone
C. Cardiac Rhabdomyoma is the most common cause of morbidity and mortality
D. Epilepsy is the most common presenting symptom of TSC
D. Epilepsy is the most common presenting symptom of TSC
Explanation:
- TSC 2 has higher learning disability
- Definite diagnosis of TSC can be based on skin finding alone
- Cardiac rhabdomyoma- regress in time; Renal tumors are the most common cause of morbidity and mortality
Most cases of Phakomatoses are inherited via ____.
A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked Recessive
D. Mitochondrial Disorder
B. Autosomal Dominant
Which of the following statements about Turner Syndrome is correct?
A. Intellectual Disability is seen in most patients
B. Risk increases with advanced maternal age
C. Abnormalities limited to physical dysmorphisms
D. Hearing impairment is common
D. Hearing impairment is common
There is enlargement of the occipital horns with normal caliber frontal horns…
A. Lissencephaly B. Colpocephaly C. Schizencephaly D. Porencephaly E. Hydranencephaly
B. Colpocephaly
It is a congenital malformation of cortical development that results in a cleft in the brain.
A. Lissencephaly B. Colpocephaly C. Schizencephaly D. Porencephaly E. Hydranencephaly
C. Schizencephaly
There is preservation of medial temporal lobe, occipital lobe, cerebellum, thalami and brainstem. It is a congenital malformation at which majority of the cerebral hemispheres and basal ganglia are replaced by glial tissue and CSF.
A. Lissencephaly B. Colpocephaly C. Schizencephaly D. Porencephaly E. Hydranencephaly
E. Hydranencephaly
Presence of congenital, CSF-Filled cyst within a cerebral hemisphere.
A. Lissencephaly B. Colpocephaly C. Schizencephaly D. Porencephaly E. Hydranencephaly
D. Porencephaly
