Pediatric Neurologic Disorders

Emergency medical services arrive at the pediatric resuscitation bay with a $7$-year-old girl who has become progressively unresponsive over the past $12$ hours. Her caregivers describe a $3$-week prodrome of early morning cephalgia and forceful emesis. Just prior to EMS arrival, she experienced a self-resolving, $2$-minute episode of generalized body stiffening and jerking.

Initial vital signs demonstrate a temperature of $37.2^\circ\text{C}$, a heart rate of $54\text{/min}$, a blood pressure of $148/96\text{ mmHg}$, and respirations of $10\text{/min}$ with apneic pauses.

Neurologic evaluation reveals a comatose patient who does not open her eyes or vocalize, but withdraws her left arm and leg in response to nailbed pressure. The right pupil measures $7\text{ mm}$ and is fixed, whereas the left pupil measures $3\text{ mm}$ and reacts briskly to light. Deep tendon reflexes are $3+$ on the left side, and a left-sided extensor plantar response is noted.

Arrange the following interventions in the most appropriate chronological sequence for the acute management of this patient's condition.

An 18-month-old girl is brought to the pediatric neurology clinic by her parents due to ongoing concerns about her development and a recent "shaking episode." Yesterday, the child experienced a 1-minute generalized tonic-clonic seizure that resolved spontaneously. The parents report that over the past 4 months, the patient has completely stopped speaking the few words she knew (e.g., "mama," "dada") and no longer attempts to feed herself. Instead, she spends most of her day repetitively wringing and clasping her hands. Her past medical history is notable for normal development until 12 months of age. Additionally, she has had clear rhinorrhea for the past 2 days. On examination, the patient's temperature is 37.1°C (98.8°F), heart rate is 108/min, and respiratory rate is 22/min. The lungs are clear to auscultation bilaterally. Neurologic examination reveals a wide-based, unsteady gait and an absent pincer grasp. Review of her pediatric growth chart demonstrates that her head circumference has dropped from the 50th percentile at age 12 months to the 5th percentile currently, whereas her length and weight have remained on the 50th percentile curves. Which of the following is the most appropriate next step in the management of this patient?

A 4-month-old boy is brought to the emergency department due to poor feeding and a weak cry for the past 3 days. The parents report that he has been progressively less active and has not had a bowel movement in 5 days. He was previously healthy and exclusively breastfed, though the parents recently began dipping his pacifier in honey to soothe him. He was born at full term and his newborn screen was normal. His temperature is $37.1^\circ C$ ($98.8^\circ F$), heart rate is $140/\text{min}$, and respiratory rate is $35/\text{min}$. On physical examination, the infant appears listless. He has bilateral ptosis, sluggish pupillary responses to light, and an absent gag reflex. There is marked head lag and generalized hypotonia. The abdomen is soft and non-distended with hypoactive bowel sounds. Laboratory testing shows a thyroid-stimulating hormone (TSH) level of $2.4 \mu\text{U/mL}$ (normal: $0.5-5.0 \mu\text{U/mL}$). Which of the following is the most appropriate next step in management for this patient?

During a routine health maintenance visit, a physician evaluates a 2-year-old girl due to parental concerns regarding significant behavioral changes. The parents state that she achieved all early developmental milestones appropriately, including sitting unassisted at 6 months and saying single words at 12 months. However, over the past 8 months, she has lost her vocabulary and no longer makes purposeful reaching movements with her hands. Instead, she continuously claps and wrings her hands together. The parents also report intermittent episodes where she breathes very rapidly and forcefully, occasionally leading to mild wheezing, followed by periods of breath-holding. Physical examination reveals an alert child who avoids eye contact. Her head circumference has dropped from the 50th percentile at age 6 months to the 5th percentile currently. She exhibits no signs of acute distress and remains afebrile. Based on the most likely underlying condition, which of the following is the most appropriate next step in management or evaluation?

A $6$-month-old boy is brought to the clinic by his parents due to abnormal movements. Over the past $2$ weeks, he has had multiple episodes daily where he suddenly bends his head and trunk forward while stiffening his arms. These episodes occur in clusters, most often just after waking up from a nap. The parents are also highly concerned about his development because he has not yet begun to crawl or pull himself to a stand, though he rolls over in both directions and babbles. Vital signs are within normal limits. Neurologic examination shows a slightly hypotonic infant. Skin examination reveals three $2\text{-cm}$, elliptical, hypopigmented macules on his trunk that are accentuated under a Wood lamp. Laboratory studies show a thyroid-stimulating hormone (TSH) level of $2.5\ \mu\text{U/mL}$ and a free T4 of $1.2\ \text{ng/dL}$. An electroencephalogram demonstrates a high-voltage, chaotic, slow-wave background with multifocal spikes. Which of the following is the most appropriate next step in management?

A 6-year-old boy is brought to the emergency department by ambulance due to ongoing generalized tonic-clonic movements. His mother reports the seizure began 20 minutes ago and has not stopped. He has a history of epilepsy but missed his medications for the past two days. Arrange the following management steps for this patient in the most appropriate chronological order according to standard pediatric status epilepticus protocols.

A previously healthy 6-year-old girl is evaluated in the outpatient pediatric clinic. Two days ago, she experienced her first unprovoked generalized tonic-clonic seizure, which lasted 3 minutes and was followed by a 20-minute postictal period. She has since returned to her baseline, and her neurologic examination today is completely unremarkable. Assuming she eventually develops a typical course of focal epilepsy, arrange the following clinical steps in the most appropriate chronological sequence for her longitudinal evaluation and management.

During a routine health maintenance visit, the parents of a 16-month-old boy express concern regarding his motor development. They report that he started walking independently at 15 months of age but appears highly uncoordinated. According to the parents, he falls several times a day, maintains a very wide stance, and holds both arms in the air with his elbows slightly bent while moving. They are worried about a potential neurologic disorder because the child's older cousin was recently evaluated for ataxia. The pregnancy and delivery were uncomplicated. The child has a vocabulary of six words and correctly points to his nose when asked. Vital signs are within normal limits. Neurologic examination reveals an alert, cooperative child walking with a wide base and arms in a high-guard position. Muscle tone, bulk, and strength are symmetric and normal throughout. Deep tendon reflexes are 2+ globally. When offered a toy, he reaches for it smoothly with no intention tremor. Which of the following is the most appropriate next step in management?

An 8-month-old female infant is brought to the pediatric clinic by her parents due to a two-week history of abnormal movements. The parents describe sudden, symmetrical, forward-bending jerks of the infant's neck, trunk, and arms. These episodes typically occur in clusters just after the infant wakes up from sleep. The pregnancy and delivery were uncomplicated. The infant had been meeting all early developmental milestones, but the parents note she recently stopped rolling over and babbling. Vital signs are within normal limits. Neurologic examination is notable for generalized hypotonia. Skin examination under Wood lamp illumination reveals three 1.5-cm, elliptical, hypopigmented macules on the infant's trunk. Which of the following are the most appropriate next steps in the evaluation and management of this patient? (Select exactly two answers)

A $16$-year-old female high school student presents to an outpatient neurology practice after suffering a generalized convulsion. The event occurred this morning shortly after she woke up. Her mother states that for the past $6$ months, the patient has experienced sudden, brief, symmetric muscle jerks in her upper extremities, predominantly occurring within the first hour of awakening. These jerks have occasionally caused her to drop her hairbrush. Her past medical history is unremarkable. She met all early developmental milestones on time, including sitting without support at $6$ months and walking independently at $12$ months. Neurologic examination today demonstrates normal tone, power, and reflexes. An interictal electroencephalogram shows bursts of bilateral, synchronous $4$- to $6$-Hz polyspike-and-wave discharges on a normal background. Which of the following statements regarding this patient's diagnosis and management are correct? (Select 2)

A 4-year-old boy is brought to the pediatric neurology clinic by his parents due to increasing unsteadiness. The parents report that although he started walking independently at 14 months of age, he has become progressively clumsy over the past year and now falls frequently. He has also had four episodes of prolonged cough and wheezing over the last eight months, which were treated with a short-acting bronchodilator with minimal improvement. Vital signs are within normal limits. Physical examination reveals a wide-based, unsteady gait and dysmetria on finger-to-nose testing. Close inspection of the eyes shows prominent networks of fine, red, dilated blood vessels on the bulbar conjunctivae. The patient's immunization record indicates he is due for his routine 4-year-old vaccinations, which include the measles, mumps, and rubella (MMR) vaccine and the varicella vaccine. Based on the most likely underlying diagnosis, which of the following is the most appropriate next step in management?

A 16-month-old girl is evaluated in the emergency department after her parents witnessed a 4-minute episode of generalized rhythmic jerking and loss of consciousness at home. Her rectal temperature in the emergency department is 39.2°C (102.6°F) and a rapid viral swab is positive for influenza A. She is currently fully awake, interactive, and drinking oral fluids. Her previous medical history is unremarkable, and she is up to date on immunizations. Which of the following statements regarding this patient's condition and management are correct? (Select all that apply)

A 7-month-old boy is brought to the outpatient clinic by his mother due to a two-week history of unusual movements. The mother states that shortly after waking from naps, the infant suddenly flexes his head and pulls his arms forward synchronously. These episodes last for a few seconds and occur in clusters of 10 to 15. Prior to this, he had been babbling and rolling over, but he has stopped performing these skills over the past week. Vitals are: temperature 37.0°C (98.6°F), heart rate 110/min, respiratory rate 28/min, and blood pressure 90/55 mm Hg. Neurological examination reveals axial hypotonia and poor head control. Skin examination is notable for three 1.5-cm elliptical, hypopigmented macules on the trunk and right thigh. An electroencephalogram demonstrates a disorganized pattern of chaotic, high-amplitude slow waves and multifocal spikes. Which of the following is the most appropriate initial pharmacotherapy for this patient's condition?

A 6-month-old boy is brought to the pediatric clinic by his parents for a routine well-child visit. His parents express significant concern because the infant is not yet crawling and cannot pick up small objects with his thumb and index finger. He is currently able to roll in both directions, sit momentarily without support, and babble. Over the past three weeks, the parents have noted that he is increasingly irritable and has had multiple episodes of forceful vomiting, primarily occurring in the morning. He has no history of fever, trauma, or diarrhea.

Vital signs are temperature 37.1°C (98.8°F), heart rate 110/min, and respiratory rate 24/min. Weight is at the 50th percentile, and length is at the 45th percentile. Head circumference has increased from the 60th percentile at age 4 months to the 98th percentile currently. On physical examination, the anterior fontanelle is full and tense. Neurologic examination reveals downward deviation of the eyes with sclera visible above the iris. The remainder of the examination is unremarkable.

Which of the following is the most appropriate next step in the management of this patient?

A pediatrician is evaluating a 4-year-old boy who has developed a progressively unsteady gait over the past twelve months. According to his medical records, he achieved independent ambulation at 15 months of age but has recently begun to stumble frequently. On neurological examination, he demonstrates truncal instability and a wide-based stance. When asked to follow a finger with his eyes, horizontal nystagmus and delayed saccades are observed. The physician also notes the presence of dilated, tortuous superficial vessels on the bulbar conjunctivae of both eyes. A subsequent blood panel shows a markedly elevated alpha-fetoprotein level alongside a quantitative IgA deficiency. Which of the following statements regarding the patient's underlying syndrome are correct? (Select 2 that apply)

Parents bring their 5-year-old son to the emergency department because he has developed worsening weakness in his legs over the past two days. According to his mother, he has been stumbling frequently and today refused to get out of bed, complaining that his legs feel "like jelly." Three weeks ago, the boy experienced a self-resolving episode of abdominal cramps and bloody diarrhea. On physical examination, his temperature is $36.9^\circ\text{C}$ ($98.4^\circ\text{F}$), heart rate is $108/\text{min}$, respiratory rate is $20/\text{min}$, and blood pressure is $102/64\text{ mm Hg}$. He is alert and interactive. Cranial nerve examination shows no abnormalities. Motor examination reveals symmetric $3/5$ strength in the proximal and distal lower extremities, and $5/5$ strength in the upper extremities. Deep tendon reflexes are absent at the patellae and Achilles, and $1+$ at the biceps. Sensory examination to light touch and pinprick is unremarkable. Which of the following is the most appropriate next step in the management of this patient?

A 15-month-old girl is brought to the pediatric clinic for a 2-day history of low-grade fever, mild cough, and clear rhinorrhea. Her temperature is 37.8°C (100.0°F), and her respiratory rate is 24/min. Lung auscultation reveals transmitted upper airway sounds but no true wheezing or crackles. During the visit, her mother expresses deep concern that the child is developmentally delayed because she only speaks three words and cannot yet run.

Physical examination reveals an active, well-appearing toddler. Skin examination shows eight flat, uniformly hyperpigmented macules measuring 1 to 2 cm in diameter scattered across her chest and back, along with distinct clustering of freckles in both axillae. Neurologic examination shows normal muscle tone and strength. She is able to walk independently and uses a neat pincer grasp to pick up small objects.

Which of the following is the most appropriate next step in the comprehensive management of this patient?

A 10-month-old boy is brought to the emergency department by his parents after experiencing a sudden episode of generalized shaking that lasted for approximately 1 minute. During the episode, the patient's eyes rolled back, and he was unresponsive to his parents' voices. By the time they arrived at the emergency department, the shaking had stopped and he had fully regained consciousness. Over the past two days, the infant has had clear rhinorrhea, a mild cough, and a tactile fever. His temperature is 39.2°C (102.6°F), heart rate is 145/min, blood pressure is 90/60 mmHg, and respiratory rate is 42/min. On physical examination, the infant is awake, alert, and playfully reaching for the physician's stethoscope. Auscultation of the lungs reveals diffuse bilateral expiratory wheezing. Neurologic examination shows normal muscle tone, symmetric reflexes, and no focal deficits. The parents note that he recently started pulling himself up to a stand and says "dada" and "mama". Which of the following is the most appropriate next step in the management of this patient?

A 6-month-old boy is brought to the pediatric clinic by his parents due to strange jerking movements that began two weeks ago. The parents report that he suddenly flexes his neck, trunk, and arms for 1 to 2 seconds. These movements occur in clusters of up to 20 episodes, typically just after he wakes from a nap. Previously, the infant had begun to roll over and smile, but he has not done either since these episodes started. He was born at 39 weeks' gestation without complications. Temperature is 37.0°C (98.6°F), heart rate is 120/min, and blood pressure is 85/50 mm Hg. Physical examination reveals three 1.5-cm elliptical, hypopigmented macules on his trunk that become more prominent under a Wood's lamp. The remainder of the examination shows decreased muscle tone. An electroencephalogram (EEG) demonstrates a high-amplitude, chaotic background with asynchronous, multifocal spikes and slow waves. Which of the following is the most appropriate next step in the management of this patient?

A 7-month-old boy is brought to the clinic by his parents due to "strange movements" that began two weeks ago. The parents report that the child has episodes where he suddenly bends his head and body forward while extending his arms stiffly. These episodes last for a few seconds, occur in clusters of 10 to 15, and typically happen just after he wakes up from a nap. Previously, the infant was able to sit with support and babble, but recently he has stopped vocalizing and seems less engaged with his surroundings. Vital signs are within normal limits for age. Physical examination reveals an infant who does not visually track objects well. Skin examination under a Wood lamp reveals three 2-cm elliptical hypopigmented macules on his trunk. An electroencephalogram (EEG) demonstrates a chaotic, high-voltage, asynchronous background with intermixed multifocal spikes and slow waves. Which of the following is the most appropriate initial pharmacotherapy for this patient's underlying condition?