Neurology

Question 1

A Caucasian female newborn presents in the delivery room with:

• Large parts of the cranium missing, including the frontal and parietal bones
• The forebrain is missing.
• Facial and eye abnormalities

Prenatally, the mother had elevated serum levels of alpha-fetoprotein.

What is the diagnosis?

Answer 1

Anencephaly

Anencephaly occurs when the anterior neural tube fails to close. It has an incidence of ~ 1/10,000 live births and is invariably lethal. Girls and Caucasians are more commonly affected. Failure of closure of the posteriorneural tube results in myelomeningocele.

Question 2

What is the treatment for juvenile myasthenia gravis?

Answer 2

Oral Anticholinesterase Medications; Possibly Immunosuppression, Thymectomy, Plasmapheresis or IVIG

Treat with oral anticholinesterase medications (e.g., pyridostigmine); these increase the concentration of acetylcholine at the receptor site, resulting in muscarinic (e.g., abdominal cramping, diarrhea, salivation) and nicotinic (e.g., fasciculations, muscle cramping) side effects. Most patients require immunosuppression at some point as well. Thymectomy induces remission in as many as 50–60%. Finally, plasmapheresis or IV immunoglobulin (IVIG) is beneficial for short-term amelioration of worsening symptoms.

Question 3

A 7-year-old girl has the following episode:

• It lasts 15 seconds.
• Asynchronous clonic movements of the face, neck, and upper extremities
• She had an aura before it occurred.
• She had a hallucination that a big dog was next to her during the episode.
• She never lost consciousness, and she interacted with her mother during the episode.
• No postictal confusion

What type of seizure did she have?

Answer 3

Focal Seizure without Impairment of Consciousness

Focal seizures without impairment of consciousness (formerly simple partial seizures) are seizures in which patients do not lose consciousness and can still interact with their environment. These seizures can be quite varied in symptoms/signs, depending on where the focus is located: focal-motor (from the precentral gyrus), focal-somatosensory (from the parietal lobe), or focal-adversive (from the mesial frontal lobe).

Question 4

A 5-month-old boy presents with episodes of sudden, simultaneous flexion of his head and trunk, along with flexion and adduction of his extremities. The last episode occurred in a transition period from sleep to wakefulness and occurred in too-numerous-to-count clusters (> 100).

What is the likely diagnosis?

Answer 4

Infantile Spasms

Infantile spasms are a unique type of seizure disorder, occurring in infants and children < 1 year of age. The majority of these infants develop spasms between 4 and 8 months of age; they rarely present after 2 years of age and usually stop by 2–4 years of age. The classic spasm is the “jackknife” flexor spasm (a.k.a. salaam attack and Blitz-Nick-Salaam-Krämpfe) that is described in the vignette. Infantile spasms resolve over time without specific therapy; however, most surviving children have severe intellectual disability and other types of seizure disorders (most typically Lennox-Gastaut syndrome). Mortality is ~ 20%.

Question 5

• Hypoactive or absent deep-tendon reflexes
• Ataxia
• Corticospinal tract dysfunction
• Impaired vibratory and proprioceptive function
• Hypertrophic cardiomyopathy
• Diabetes mellitus

Name the disorder with these findings.

Answer 5

Friedreich Ataxia

Friedreich ataxia is transmitted as an AR disorder and maps to chromosome 9. It occurs in about 1/30,000 to 1/50,000 in the Caucasian population.

Question 6

An infant is born to a mother who took valproic acid during her 1^st trimester. The infant has:

• A lumbosacral defect that involves the nerve roots, spinal cord meninges, vertebral bodies, and skin
• Flaccid paralysis of the lower extremities
• No deep-tendon reflexes of the lower extremities
• Lack of response to touch or pain in the lower extremities
• Bilateral clubfoot

What 2 abnormalities will she most likely develop?

Answer 6

Hydrocephalus and Type II Chiari Defect

This child has a myelomeningocele, the most severe type of spina bifida. 80–85% of children with a myelomeningocele will develop hydrocephalus in addition to a Type II Chiari defect. Type II is the most common form of Chiari and occurs when the 4^th ventricle and lower medulla are pushed down below the level of the foramen magnum. With a Type I Chiari malformation, the cerebellar tonsils or vermis are pushed down below the level of the foramen magnum. In Type III Chiari malformations, the cerebellum herniates through a cervical spina bifida defect.

Question 7

A 10-year-old girl was seen by an outlying emergency department and was given an IM intragluteal injection of penicillin for presumed streptococcal pharyngitis. She develops the following over the next few hours:

• Loss of left leg flexion
• Flail foot drop on the left
• Absence of ankle jerk reflex on the left
• Sensory loss below the left knee, except the medial portion is intact

What is the likely diagnosis?

Answer 7

Sciatic Nerve Injury

Sciatic nerve injection injuries occur during IM injections. IM injections during infancy are contraindicated in the intragluteal area and should be done with extreme caution in older children. Sciatic nerve injection injuries can be devastating; high lesions rarely fully recover.

Question 8

A 3-hour-old infant is born to a mother who has a neurologic disease. The infant presents with:

• Hypotonia
• Weak cry
• Difficulty feeding
• Facial weakness
• Ptosis
• Respiratory distress

What is the likely cause of the infant’s problems?

Answer 8

Neonatal Myasthenia Gravis from Transplacental Transmission of Maternal Acetylcholine Receptor Antibodies (AChR-Ab)

All of the findings listed can occur—the ptosis and facial weakness should clue you in because nothing else is going to cause this with respiratory distress. Neonatal myasthenia gravis resolves in 2–12 weeks after the maternal antibodies have cleared.

Note: This differs from congenital myasthenia gravis, which is an AR disorder and does not have circulating antibodies to acetylcholine receptors.

Question 9

A 10-year-old boy has the following recurrent seizure episodes:

• Morning myoclonic jerking
• History of absence seizures
• Normal intelligence
• Family history of similar seizures
• Generalized tonic-clonic seizures occurring just after awaking or during sleep

What condition causes the type of seizure he is having?

Answer 9

Juvenile Myoclonic Epilepsy (JME), a.k.a. Janz Syndrome

JME is a subtype of idiopathic generalized epilepsy. This is usually a lifelong condition. Seizures increase with sleep deprivation, stress, or alcohol use.

Question 10

A 3-year-old girl with a recent varicella infection presents with:

• Hypotonia
• Tremor
• Horizontal nystagmus
• Dysarthria
• Severe ataxia
• Sensory exam is normal.
• Deep-tendon reflexes are normal.
• CSF normal, except for 15 lymphocytes/µL

What is the most likely diagnosis?

Answer 10

Acute Cerebellar Ataxia of Childhood (a.k.a. Acute Cerebellitis)

Acute cerebellar ataxia of childhood occurs most commonly in children between 2 and 6 years of age. Its onset is abrupt, and about 50% of affected children have a recent history of URI or viral GI illness. These viruses can include varicella, rubeola, mumps, rubella, echoviruses, EBV, and influenza. Some bacterial infections, such as group A Streptococcus and Salmonella, also have been implicated.

Question 11

A 3-year-old boy presents with:

• Fever of 104.9° F (40.5° C)
• 10 minutes of tonic-clonic seizures that are nonfocal
• Evaluation of the family history shows that his father had one seizure as a child.

What is the diagnosis?

Answer 11

Febrile Seizure

Febrile seizures are very common. (2–5% of children experience at least 1 febrile seizure before 5 years of age.) This is a simple febrile seizure because the child is otherwise healthy, the seizure is triggered by a fever, lasts < 15 minutes, is nonfocal, and did not recur. ~ 40% of those affected have at least one 1st or 2nd degree relative with a history of febrile seizures.

Question 12

A 3-month-old girl presents with:

• Hypotonia
• Symmetric proximal muscle weakness
• Difficulty feeding
• Tongue fasciculations

What is the diagnosis, and what gene carries this anomaly?

Answer 12

Spinal Muscular Atrophy (SMA) Type 1 (a.k.a. Werdnig-Hoffmann Syndrome); SMN1 Gene on Chromosome 5q13

SMA Type 1 presents before 6 months of age with the listed symptoms. In particular, if you see tongue fasciculations in a child this age in a question, look for SMA as an answer! SMA is the 2^nd most common lethal AR disorder; cystic fibrosis is 1^st. Gene mutation screening allows diagnosis of 95% of SMA cases; the defect is in the SMN1 gene found on chromosome 5q13.

Question 13

An infant is born with a severe seizure disorder that begins at birth. A CT scan of the head shows a brain without cerebral convolutions and having a poorly formed sylvian fissure.

What is the diagnosis?

Answer 13

Lissencephaly (Agyria)

Lissencephaly (“smooth brain”) is characterized by a brain that has a smooth cerebral surface with a thickened cortical mantle. It lacks cerebral folds (gyri) and grooves (sulci) and has a poorly formed sylvian fissure. Lissencephaly is caused by a defect in the neuronal migration during gestational weeks 12–24. It is associated with several disorders, especially isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. These children have severe psychomotor impairment, seizures, poor feeding, recurrent pneumonia, and shortened lifespans, rarely reaching 10 years of age.

Question 14

A 13-year-old girl presents with:

• Worsening muscle weakness that is exacerbated by repetitive muscle use
• Ocular muscle weakness and ptosis

What is the most likely diagnosis?

Answer 14

Juvenile Myasthenia Gravis

Myasthenia gravis is rare in children. Juvenile myasthenia gravis is an acquired autoimmune disorder and affects girls more than boys, usually after 10 years of age. 80–90% of affected children have circulating autoantibodies to acetylcholine receptors (AChR-Ab). The disease progresses gradually, with worsening muscle weakness, fatigability, and respiratory compromise. Muscle weakness is exacerbated by repetitive muscle use. Ocular muscles are involved, resulting in ptosis and ophthalmoplegia.

Question 15

A 10-year-old boy presents with initial severe back pain that radiates to the front. This is then followed by:

• Rapidly progressive paraparesis
• Loss of sphincter tone
• Loss of pain and temperature sensations below the level of T7

What is the most likely diagnosis?

Answer 15

Transverse Myelitis

Transverse myelitis refers to segmental spinal cord disease with both motor and sensory abnormalities at and below the level of the lesion. Most lesions occur at the thoracic cord level. MRI may be helpful in showing intramedullary signal change.

Question 16

A 5-year-old boy falls from a 25-foot tree and hits his head. Initially, he is unconscious. He regains consciousness and appears to be doing better. After several hours, however, he worsens. He loses consciousness and develops focal neurologic signs. He has a dilated pupil that has progressed to CN 3 palsy and a contralateral hemiplegia.

What is the most likely etiology of these findings?

Answer 16

Epidural Hematoma

An epidural hematoma happens when bleeding occurs between the skull and the dura. Most commonly, it occurs with a temporal bone fracture, which causes a tear of the middle meningeal artery or (more commonly in children) causes a tear in the bridging veins or dural sinuses. Epidural hematomas of arterial origin can grow rapidly and acutely raise intracranial pressure, which results in hypertension, bradycardia, and a progressive decline in mental status. Treatment is surgical intervention. Untreated, mortality is ~ 100%.

Question 17

An 8-year-old boy presents with:

• A history of focal, unremitting, seizures occurring on the left side of the body
• Has developed hemiparesis on the left side.
• Diminished intelligence
• New hemianopia

What syndrome does this child most likely have?

Answer 17

Rasmussen Syndrome

Rasmussen syndrome (chronic focal encephalitis) is believed to be an immunologic process involving one hemisphere of the brain. About 70% have a history of infectious or inflammatory illness themselves or in a family member. The disease is not fatal but deteriorates to a stable, often devastating, neurologic deficit. A modified hemispherectomy or focal cortical excision usually improve symptoms markedly and is the recommended treatment.

Question 18

A newborn is noted to have a herniation of meninges through a defect in the posterior vertebral arches. The spinal cord itself is normal. The area is well covered with skin.

What is the diagnosis?

Answer 18

Meningocele

A meningocele is the rarest of the 3 types of spina bifida. It is a herniation of the meninges alone (not the spinal cord) through a defect in the posterior vertebral arches. Most meningoceles are well covered with skin and pose no urgent problem. Delay surgery for those patients with completely normal neurologic exams and with complete, full-thickness skin covering the meningocele. Technically, the surgery is easier when the child is larger and the skin is less fragile.

Question 19

A 2-week-old infant with a history of intrauterine CMV infection presents with:

• Lethargy
• Vomiting
• A marked increase in head circumference
• Dilated scalp veins

What is the likely diagnosis?

Answer 19

Hydrocephalus

Hydrocephalus is defined as an excessive volume of intracranial cerebrospinal fluid with ventricular dilatation. It occurs commonly after intrauterine infection with CMV, rubella, toxoplasmosis, and syphilis. The infections cause an inflammatory reaction of the ependymal linings of the ventricular system and the meninges of the subarachnoid space, resulting in decreased ability to absorb CSF.

Question 20

A 7-year-old girl is experiencing recurrent episodes with these characteristics:

• 5- to 15-second lapses in awareness
• Amnesia during the episodes
• Episodes have abrupt onset and ending—sometimes occurring in the middle of conversation.
• Flickering of the eyelids is common.
• Occasionally, she stares or has eye rolling.
• EEG shows a 3-Hz generalized spike and wave discharge.

What type of seizure is she having?

Answer 20

Absence Seizure (Petit Mal Seizure)

Absence seizures are classically characterized as described in the vignette. Atypical absence seizures may also have brief jerks of the eyelids and limbs, transient change in postural tone (increase or decrease), pupillary dilation, skin-color changes, and tachycardia. Absence seizures are not associated with auras, hallucinations, or postictal abnormalities. Do not confuse absence seizures with focal seizures, which last longer (generally > 30 seconds), have auras, and include slow return to consciousness.

Question 21

As a single risk factor, what is the most common cause of strokes in children?

Answer 21

Sickle Cell Disease

Sickle cell disease is responsible for nearly 10% of pediatric strokes. Genotype SS has the highest incidence of stroke among the sickle hemoglobinopathies.

Question 22

A 14-year-old girl presents with:

• Recurrent, pulsating, moderate-intensity headaches occurring on the left side of her head
• Associated nausea and vomiting
• Photophobia

What is the likely diagnosis?

Answer 22

Migraine Headache

Pediatric migraine without aura is defined as at least 5 attacks that last between 2 and 72 hours and:

• Include at least 2 of the following:
  
  • Bilateral or unilateral location
  • Pulsating
  • Moderate-to-severe pain
  • Pain made worse with activity
• Have at least 1 associated symptom:
  
  • Nausea/Vomiting
  • Photophobia/Phonophobia

Question 23

A 5-year-old suffers a fall and develops bilateral orbital ecchymoses (“raccoon eyes”) with appearance of otorrhea.

Where is the most likely location of the skull fracture?

Answer 23

Basilar Skull Area

Bilateral orbital ecchymoses (“raccoon eyes” or black eyes) indicates a fracture at the base of the skull. Such a fracture also might be indicated by posterior auricular ecchymoses (Battle sign) and tympanic membrane discoloration if the petrous bone of the middle fossa is involved. Otorrhea and rhinorrhea also point to this location.

Question 24

You suspect Duchenne Muscular Dystrophy (DMD) in a 4-year-old boy.

How do you confirm the diagnosis?

Answer 24

Identify Mutation on the DMD Gene

If DMD is clinically suspected, measuring CK level is the next step. It will be elevated in patients with the disease. Diagnosis is confirmed by identifying a mutation of the DMD gene. Muscle biopsy is typically only used to confirm the diagnosis in patients whose genetic testing is negative.

Question 25

A 4-year-old boy presents with:

• Frequent falling
• A waddling gait
• Toe walking
• Calf muscle pseudohypertrophy
• A positive Gowers sign—using arms to “climb up” the legs when rising from a seated position on the floor
• Elevated CK

What is the diagnosis?

Answer 25

Duchenne Muscular Dystrophy (DMD)

DMD is the most common form of muscular dystrophy. It is X-linked recessive and therefore only occurs in boys. Affected boys commonly lose the ability to walk by 12 years of age.

Question 26

A 6-year-old has an episode with the following symptoms:

• Loss of consciousness simultaneous with marked, sustained contractions of the entire musculature
• Eyes that deviate conjugately upward and dilated pupils
• Salivation and diaphoreses
• Urinary incontinence

The episode lasts for 10–20 seconds. Then, the patient has a series of brief but progressively longer relaxations of all muscle groups, which interrupt and eventually stop the sustained, tonic muscular spasm. This lasts about 30 seconds. After this, he slowly gains consciousness and is confused and sleepy for about 30 minutes.

What type of seizure did this patient have?

Answer 26

Tonic-Clonic Seizures (Previously Grand Mal Seizure)

Tonic-clonic seizures are the classic form of generalized seizures. These seizures are rare in infancy but not uncommon in early childhood.

Question 27

A newborn presents in the delivery room with herniation of the brain and its coverings through a skull defect in the occipital region.

What is the diagnosis?

Answer 27

Encephalocele

An encephalocele is a neural tube defect in which there is a herniation of the brain, its coverings, or both, through a skull defect; 75% of the time, it is in the occipital region. In the U.S., it occurs with a frequency of ~ 1/10,000 live births. Males and females are equally affected.

Question 28

A child with sickle cell disease has a history of chronic, occlusive, cerebrovascular disease. He is found to have extensive collateral vessels, resulting from prior occlusions of arteries around the circle of Willis.

What is the name for this anomaly seen on cerebral angiography?

Answer 28

Moyamoya Disease

Moyamoya, a Japanese term meaning “puff of smoke,” refers to the extensive collateral vessels occurring around the circle of Willis as seen on cerebral angiography. Moyamoya disease can also occur with neurofibromatosis Type 1, trisomy 21, and cranial irradiation.

Question 29

An infant is born to a mother who took valproic acid during her first trimester. The infant has:

• A lumbosacral defect that involves the nerve roots, spinal cord meninges, vertebral bodies, and skin
• Flaccid paralysis of the lower extremities
• No deep-tendon reflexes of the lower extremities
• Lack of response to touch or pain in the lower extremities
• Bilateral clubfoot

What is the diagnosis?

Answer 29

Myelomeningocele

Myelomeningocele is the most common and most serious type of spina bifida. It’s also the most severe form of neural tube defect (NTD) of the vertebral column. It’s characterized by a herniation of the spinal cord and meninges through a midline defect in the spine. The defect may occur anywhere along the spinal cord but most commonly affects the lumbosacral region. 50% or more of NTDs can be prevented with periconceptional folic acid supplementation. This is recommended for all potentially childbearing women at a dose of 0.4–0.8 mg/day. Women who have previously had a child with an NTB and those taking anticonvulsants (especially valproic acid) should get up to 4 mg/day of folic acid, starting 1 month before attempting conception and continuing through the 1st trimester. Valproic acid interferes with folate metabolism and has a 1–2% risk of an NTD.

Question 30

A 5-year-old, asymptomatic girl presents as a new patient for a routine visit to your practice. On physical examination, you note a tuft of hair in the midline of her lower back.

What abnormality does this suggest?

Answer 30

Spina Bifida Occulta

Spina bifida occulta is very common (about 10% of the population) and rarely causes any problems. It is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Most patients are asymptomatic and have no neurologic signs. Some cases present with patches of hair, a lipoma, skin-color changes, or a dermal sinus. Plain films of the spine show the defect.

Question 31

A woman undergoes a prenatal ultrasound at ∼ 32 weeks of gestation. The brain of the fetus shows widely separated frontal horns with the 3^rd ventricle very high between the lateral ventricles. The mother admits to using cocaine during the pregnancy.

What is the diagnosis?

Answer 31

Agenesis of the Corpus Callosum

Agenesis of the corpus callosum is one of the > 25 neuronal migration disorders (NMDs). It can be inherited as an X-linked dominant or recessive trait or as an autosomal dominant trait. Recently, maternal cocaine use has been linked to this condition. Agenesis of the corpus callosum occurs in a wide variety of disorders, with similar severity variations. Some are asymptomatic and have normal intelligence, while others have severe intellectual disability.

Question 32

A 14-year-old girl with history of Campylobacter diarrhea presents with:

• Progressive weakness that began distally in her legs with paralysis moving upward toward her lower abdomen
• She has lost tendon reflexes in her lower extremities.
• Sensory examination is intact, except for possible diminution of vibratory sensation.
• CSF shows elevated protein.

What is the diagnosis?

Answer 32

Guillain-Barré Syndrome

Guillain-Barré syndrome is classically associated with preceding infections, especially Campylobacter, Mycoplasma, or EBV. This can be differentiated from transverse myelitis because patients with Guillain-Barré do not have a sensory level.

Question 33

A 5-month-old infant presents with:

• Constipation
• Generalized weakness
• Decreased ability to suck
• Poor gag reflexes
• Loss of deep-tendon reflexes
• Facial diplegia
• Lack of pupillary response to light
• Ptosis

What is the likely diagnosis?

Answer 33

Botulism

Botulism is due to the effects of Clostridium botulinum toxin. The toxin affects the presynaptic mechanisms that release acetylcholine in response to nerve stimulation. In the past, outbreaks occurred in infants who had been given honey at young ages. Recent outbreaks have occurred with commercial carrot juice and cheese sauce. The highest rates in the U.S. occur in Alaska and are caused by eating fermented fish. The symptoms described here are classic for a young infant.

Question 34

A 9-month-old presents with increased lethargy. The grandmother brought in the child because she is worried that the child may have been abused. She notes that she has witnessed the mother “shaking the child” vigorously in the past.

Which type of intracranial bleed should you be concerned about in this child?

Answer 34

Subdural Hematoma

The “shaken-baby” syndrome is responsible for some chronic subdural hematomas. Subdural empyema, which is a complication of bacterial meningitis, also presents as a chronic subdural collection.

Question 35

A 17-year-old girl presents with:

• Optic neuritis
• Oculomotor disturbance
• Incoordination of her upper extremities with dropping of objects
• Sensory deficits
• CSF shows an increase in IgG and oligoclonal bands.
• MRI shows demyelination.

What is the most likely diagnosis?

Answer 35

Multiple Sclerosis (MS)

MS is rare in childhood; only 5% of all patients with MS had symptom onset before 10 years of age. Most pediatric cases present in adolescence, and moderately to extremely obese teenage girls are at the highest risk. The CSF and MRI findings are classic. Look for this in an adolescent girl with visual changes and motor disturbances.

Question 36

A child presents with an ischemic stroke.

If a prothrombotic factor is responsible, what is the likely abnormality?

Answer 36

Acquired Antiphospholipid Antibody

About 1/3 of children with ischemic stroke have an abnormality in prothrombotic factors. One of the most frequent disorders of this type is an acquired antiphospholipid antibody—especially anticardiolipin antibody or lupus anticoagulant.

Question 37

A 3-month-old girl presents with:

• Hypotonia and weakness that is symmetric and with more proximal muscle involvement
• Legs more affected than arms
• Difficulty feeding
• Tongue fasciculations
• No sensory deficits

What is the most likely diagnosis?

Answer 37

Spinal Muscular Atrophy (SMA) Type 1, a.k.a. Werdnig-Hoffman Syndrome or Severe Infantile SMA

SMA Type 1 is the most severe of the spinal muscular atrophies. It is the 2^nd most common lethal AR disorder (cystic fibrosis is #1). Most patients die by 2 years of age from respiratory failure. Proximal muscle weakness with tongue fasciculations are the classic buzzwords to think about in this diagnosis.

Question 38

A 16-year-old boy presents with:

• Unilateral retroorbital pain that feels “like an ice pick”
• Ipsilateral lacrimation, eye redness, and nasal congestion
• Headache that has occurred at the same time of the day for the last 3 days

What is the best acute treatment for this boy?

Answer 38

Oxygen

This boy is suffering from cluster headaches, which respond to oxygen therapy. Cluster headaches are rare in children < 10 years of age but become increasingly common between 10 and 20 years of age. Boys are affected much more than girls (3:1 to 4:1). They present with daily attacks that commonly occur at the same hour each day. The pain is strictly unilateral; severe; and is supraorbital, retroorbital, or temporal in location. Ipsilateral autonomic symptoms, like those in our example, are common.

Question 39

After a difficult labor, a newborn presents with:

• A sagging left shoulder
• A left arm that hangs limp in internal rotation with a pronated wrist
• Biceps tendon reflex is absent.
• Triceps tendon reflex is present.
• Normal sensory examination

What is the most likely diagnosis?

Answer 39

Erb-Duchenne Type Injury (Upper Plexus Root)

Birth trauma is the most common cause of peripheral nerve injury, with upper plexus roots the most commonly injured nerves. When nerve roots of CN 5, CN 6, and occasionally CN 7 are involved, it is referred to as Erb palsy (a.k.a. Erb-Duchenne palsy). Infants present with the findings described here, known as the “waiter’s tip position.” Symptoms are due to paralysis of the spinate, deltoid, biceps, brachioradialis, and extensor carpi radialis muscles.

Question 40

A 2-year-old child with history of infantile spasms has gradually developed the following findings:

• Severe tonic seizures
• Intellectual disability

An EEG shows generalized, bilateral synchronous, sharp-wave and slow-wave complexes, occurring in a repetitive fashion in long runs at ~ 2 Hz.

What syndrome does this child likely have?

Answer 40

Lennox-Gastaut Syndrome

Lennox-Gastaut syndrome refers to a varied group of symptoms with severe seizures, intellectual disability, and the characteristic EEG pattern described in the vignette. 25–40% have a history of infantile spasms.

Question 41

A 14-year-old girl presents with:

• Vertigo
• Syncope
• Dysarthria
• Visual alterations
• Loss of consciousness

What is this unusual type of migraine?

Answer 41

Basilar Artery Migraine

Basilar artery migraines present with the symptoms described in this case. (The visual alterations and loss of consciousness occur in some cases.) They occur more commonly in adolescent girls.

Question 42

A 3-year-old boy has the following type of seizure:

• 20 seconds in duration
• Rapid, bilateral, symmetric muscle contractions
• Repetitive jerks
• He fell to the ground during the seizure.

What type of seizure did he have?

Answer 42

Myoclonic Seizures

Myoclonic seizures have the characteristics described in the scenario. These seizures can be isolated, or they can occur with absence attacks or tonic-clonic attacks. In brief attacks, consciousness may be maintained. Often, myoclonic seizures are associated with progressive neurodegenerative genetic diseases.

Question 43

A neonate presents with a stroke.

What is the most common inheritable cause of stroke?

Answer 43

Activated Protein C (APC) Resistance (Factor 5 Leiden)

APC resistance (Factor 5 Leiden) is the most common inheritable cause of venous thrombosis. It is more common than deficiencies of protein C, protein S, or antithrombin, some of the other causes of ischemic stroke. APC resistance can also cause hemiplegic cerebral palsy in neonates.

Question 44

After a difficult labor, a newborn presents with:

• Paralysis of the flexors and extensors of the forearm and intrinsic muscles of the right hand
• Sensory loss on the ulnar side of the right hand

What is the most likely diagnosis?

Answer 44

Klumpke-Dejerine Type Injury (Lower Plexus Root)

Lower plexus root injuries (C8–T1) show more sensory (ulnar side of the hand) and vasomotor involvement than upper plexus root injuries, with paralysis of the flexors and extensors of the forearm and intrinsic muscles of the hand. If the 1^st thoracic root is involved, Horner syndrome and cervical sympathetic damage is likely. Injury occurring with Horner syndrome has a worse long-term motor outcome.

Question 45

An infant is born with a severe seizure disorder. A CT scan shows bilateral clefts within the cerebral hemispheres.

What is the diagnosis?

Answer 45

Schizencephaly

Schizencephaly (literally translated “split brain”) is one of the > 25 neuronal migration disorders (NMDs). CT/MRI is diagnostic. Infants with bilateral clefts usually have severe epilepsy, microcephaly, severe intellectual disability, and spastic quadriparesis. Those with unilateral clefts often have focal epilepsy and hemiplegic cerebral palsy.

Question 46

A full-term infant presents with focal seizures on the 2^nd day of life. The infant has a neonatal cerebral infarction.

In what arterial distribution do most neonatal cerebral infarctions occur?

Answer 46

Left Middle Cerebral Artery

Neonatal cerebral infarction is estimated to occur in 1/4,000 infants. Most are embolic and occur in the distribution of the left middle cerebral artery. The placenta appears to be the source for some of these emboli. The most common presentation for infants with neonatal cerebral infarction is focal seizures within the first few days of life.

Question 47

A 7-year-old girl has a seizure that presents with:

• Loss of consciousness
• Unresponsiveness
• Automatism consisting of repetitive lip smacking
• She reports a hallucination before her seizure with intense fear of a monster beside her in the room.
• Postictally, she is aggressive and angry toward her mother.

What type of seizure did this child experience?

Answer 47

Focal Seizure with Impaired Consciousness

Focal seizures with impaired consciousness (formerly called complex partial seizures) have variable symptoms but usually include alterations in consciousness, unresponsiveness, and automatisms. Automatisms are repetitive, purposeless, undirected, and inappropriate motor activities. Commonly, they include repetitive lip smacking, swallowing, chewing, or fidgeting of the fingers or hands. Prior to the seizure, an aura is common, which can include hallucinations. Postictally, these children may act aggressively or angrily to objects or persons that are in their way; this does not occur as a manifestation of the seizure itself.

Question 48

A 2-year-old boy falls from a two-story house and hits his head on the ground. Skull x-rays indicate a linear skull fracture.

What is the most common location for skull fractures in children?

Answer 48

Parietal Area

More than 80% of skull fractures are simple linear or diastatic fractures; the parietal area is the most common location. Diastatic fractures typically involve the lambdoid suture, with a spread of > 1.5 mm considered abnormal.

Question 49

A 12-month-old presents for evaluation. He was born weighing 1,200 grams, and he has a history of intraventricular hemorrhage and subsequent development of periventricular leukomalacia.

He has the following upper motor neuron signs:

• Weakness
• Spastic diplegia (legs with more spasticity than his arms)
• Hypertonicity with contractures
• Hyperreflexia with clonus
• Extensor plantar response

Which type of cerebral palsy does he most likely have?

Answer 49

Spastic Cerebral Palsy (CP)

Of the 5 types of CP, spastic is the most common, occurring in 70% of cases. Spastic CP presents with upper motor neuron signs, including weakness, hypertonicity with contractures, and hyperreflexia with clonus. Know this: Because spastic CP involves upper motor neuron signs, abnormal reflexes, such as extensor plantar response, are typically seen in these children. Spastic diplegia most commonly presents in preterm infants with a history of intraventricular hemorrhage and subsequent periventricular leukomalacia; hence its association with low-birth-weight infants.