LATEST NEUROLOGY – CHILD NEUROLOGY
CERTIFICATION EXAM OFFERED BY
AMERICAN BOARD OF PSYCHIATRY &
NEUROLOGY (ABPN) | COMPLETE EXAM Q&A
WITH RATIONALES
1. A 2-year-old male presents with global
developmental delay, hypotonia, and seizures. He
has coarse facial features, hepatosplenomegaly, and
a cherry-red spot on fundoscopic exam. What is the
most likely diagnosis?
A) Tay-Sachs disease (GM2 gangliosidosis)
B) Gaucher disease
C) Niemann-Pick type A
D) Hurler syndrome (MPS I)
Correct answer: A
Rationale: Tay-Sachs (hexosaminidase A deficiency)
presents in infancy with neurodegeneration, cherry-
red spot, seizures, and developmental regression.
Gaucher has no cherry-red spot.
2. A 4-year-old male presents with progressive
weakness, calf pseudohypertrophy, and Gowers
,sign. Creatine kinase is markedly elevated (15,000
U/L). What is the most likely genetic mutation?
A) Dystrophin gene (DMD) deletion
B) SMN1 gene deletion
C) FMR1 CGG repeat expansion
D) MECP2 mutation
Correct answer: A
Rationale: Duchenne muscular dystrophy (X-linked
recessive, dystrophin deletions). Gowers sign
(climbing up legs), calf pseudohypertrophy, elevated
CK.
3. A 3-year-old female presents with developmental
regression, loss of purposeful hand movements, and
stereotypic hand-wringing. She has microcephaly
and seizures. What is the most likely diagnosis?
A) Rett syndrome (MECP2 mutation)
B) Angelman syndrome
C) CDKL5 deficiency disorder
D) Pitt-Hopkins syndrome
Correct answer: A
,Rationale: Rett syndrome (X-linked dominant, females
only). Regression, hand-wringing, microcephaly,
seizures after normal early development.
4. A 5-year-old male presents with a 6-month history
of episodes of head nodding, eye fluttering, and
staring lasting 10 seconds, occurring many times per
day. EEG shows generalized 3 Hz spike-and-wave
discharges. What is the most appropriate first-line
treatment?
A) Ethosuximide (for absence seizures)
B) Levetiracetam
C) Valproate
D) Lamotrigine
Correct answer: A
Rationale: Childhood absence epilepsy (petit mal):
ethosuximide is first-line (most effective for absence
seizures without generalized tonic-clonic seizures).
5. A 2-year-old male presents with acute onset of
ataxia, vomiting, and nystagmus. MRI shows a midline
posterior fossa mass that enhances
heterogeneously. What is the most likely diagnosis?
A) Medulloblastoma
, B) Pilocytic astrocytoma
C) Ependymoma
D) Brainstem glioma
Correct answer: A
Rationale: Medulloblastoma (most common malignant
pediatric brain tumor). Midline, fourth ventricle,
enhances. Peak age 3-8 years.
6. A 6-month-old male presents with infantile spasms
(clusters of flexor spasms) and hypsarrhythmia on
EEG. He has developmental regression. What is the
most appropriate next step?
A) ACTH or vigabatrin
B) Phenobarbital
C) Levetiracetam
D) Ketogenic diet
Correct answer: A
Rationale: Infantile spasms (West syndrome): ACTH
or vigabatrin (especially if tuberous sclerosis) is first-
line. Prompt treatment improves outcomes.
7. A 4-year-old female presents with a 2-year history
of recurrent falls and staring spells. EEG shows
CERTIFICATION EXAM OFFERED BY
AMERICAN BOARD OF PSYCHIATRY &
NEUROLOGY (ABPN) | COMPLETE EXAM Q&A
WITH RATIONALES
1. A 2-year-old male presents with global
developmental delay, hypotonia, and seizures. He
has coarse facial features, hepatosplenomegaly, and
a cherry-red spot on fundoscopic exam. What is the
most likely diagnosis?
A) Tay-Sachs disease (GM2 gangliosidosis)
B) Gaucher disease
C) Niemann-Pick type A
D) Hurler syndrome (MPS I)
Correct answer: A
Rationale: Tay-Sachs (hexosaminidase A deficiency)
presents in infancy with neurodegeneration, cherry-
red spot, seizures, and developmental regression.
Gaucher has no cherry-red spot.
2. A 4-year-old male presents with progressive
weakness, calf pseudohypertrophy, and Gowers
,sign. Creatine kinase is markedly elevated (15,000
U/L). What is the most likely genetic mutation?
A) Dystrophin gene (DMD) deletion
B) SMN1 gene deletion
C) FMR1 CGG repeat expansion
D) MECP2 mutation
Correct answer: A
Rationale: Duchenne muscular dystrophy (X-linked
recessive, dystrophin deletions). Gowers sign
(climbing up legs), calf pseudohypertrophy, elevated
CK.
3. A 3-year-old female presents with developmental
regression, loss of purposeful hand movements, and
stereotypic hand-wringing. She has microcephaly
and seizures. What is the most likely diagnosis?
A) Rett syndrome (MECP2 mutation)
B) Angelman syndrome
C) CDKL5 deficiency disorder
D) Pitt-Hopkins syndrome
Correct answer: A
,Rationale: Rett syndrome (X-linked dominant, females
only). Regression, hand-wringing, microcephaly,
seizures after normal early development.
4. A 5-year-old male presents with a 6-month history
of episodes of head nodding, eye fluttering, and
staring lasting 10 seconds, occurring many times per
day. EEG shows generalized 3 Hz spike-and-wave
discharges. What is the most appropriate first-line
treatment?
A) Ethosuximide (for absence seizures)
B) Levetiracetam
C) Valproate
D) Lamotrigine
Correct answer: A
Rationale: Childhood absence epilepsy (petit mal):
ethosuximide is first-line (most effective for absence
seizures without generalized tonic-clonic seizures).
5. A 2-year-old male presents with acute onset of
ataxia, vomiting, and nystagmus. MRI shows a midline
posterior fossa mass that enhances
heterogeneously. What is the most likely diagnosis?
A) Medulloblastoma
, B) Pilocytic astrocytoma
C) Ependymoma
D) Brainstem glioma
Correct answer: A
Rationale: Medulloblastoma (most common malignant
pediatric brain tumor). Midline, fourth ventricle,
enhances. Peak age 3-8 years.
6. A 6-month-old male presents with infantile spasms
(clusters of flexor spasms) and hypsarrhythmia on
EEG. He has developmental regression. What is the
most appropriate next step?
A) ACTH or vigabatrin
B) Phenobarbital
C) Levetiracetam
D) Ketogenic diet
Correct answer: A
Rationale: Infantile spasms (West syndrome): ACTH
or vigabatrin (especially if tuberous sclerosis) is first-
line. Prompt treatment improves outcomes.
7. A 4-year-old female presents with a 2-year history
of recurrent falls and staring spells. EEG shows
