Pediatric Neurologic Disorders

A 7-year-old boy is brought to the pediatrician by his parents because of declining academic performance. His teacher reports that he frequently "stares off into space" during class for 10 to 15 seconds at a time. During these episodes, the boy does not respond to his name and exhibits subtle lip smacking. Immediately after the episode ends, he resumes his schoolwork without any confusion or lethargy. His physical and neurological examinations are completely normal. Having the patient hyperventilate in the office for two minutes reproduces one of these episodes. Which of the following is the most likely diagnosis?

A 4-month-old boy is brought to the emergency department by his parents due to a 3-day history of progressively worsening difficulty feeding and a 'weak' cry. The parents note that he has not had a bowel movement in 5 days. He was born at 39 weeks gestation without complications. He is exclusively breastfed but was recently given a pacifier dipped in honey to soothe him. Vital signs are within normal limits. Physical examination reveals a lethargic infant with bilateral ptosis, sluggish pupillary light reflexes, and pooling of oral secretions. When pulled by the arms to a sitting position, he exhibits pronounced head lag. Deep tendon reflexes are trace diffusely. Which of the following is the most appropriate next step in management?

A 7-month-old female infant is evaluated in the pediatric neurology clinic due to abnormal body movements that began two weeks ago. Her parents report that she experiences sudden, brief episodes where her neck, trunk, and arms flex symmetrically while her legs pull upward. These movements occur in clusters of 10 to 15, almost exclusively when she is waking up from her daytime naps. Before these episodes began, she was able to roll over and sit with support, but she now appears less interactive and no longer attempts to sit. Her prenatal history is notable for a fetal ultrasound that demonstrated a suspected cardiac mass, which was observed but required no postnatal surgical intervention. Her vital signs are within normal limits. Neurological examination reveals a socially disengaged infant with mild axial hypotonia. Wood's lamp examination of the skin reveals three 1-cm elliptical, hypopigmented macules on her lower back and left thigh. An electroencephalogram (EEG) demonstrates a chaotic, high-voltage background with multifocal spikes and slow waves. Which of the following is the most appropriate initial pharmacotherapy for this patient's current neurological condition?

A $5$-year-old boy is brought to the emergency department via ambulance in active status epilepticus. His parents report that he developed a high fever earlier in the day and subsequently began exhibiting generalized tonic-clonic movements that have now lasted for $7$ continuous minutes without cessation. Upon arrival, he remains unresponsive with ongoing rhythmic jerking of all four extremities. His temperature is $39.2^\circ\text{C}$ ($102.6^\circ\text{F}$), blood pressure is $105/65\text{ mmHg}$, pulse is $145/\text{min}$, and respiratory rate is $28/\text{min}$. The patient has no history of epilepsy. Assuming the seizure remains refractory to each sequential intervention, arrange the following management steps in the correct chronological order according to standard pediatric status epilepticus guidelines.

A 3-year-old boy is brought to the pediatric neurology clinic by his mother and 14-year-old sister for a routine follow-up of his seizure disorder. He has a history of infantile spasms that have now evolved into focal impaired awareness seizures. Examination of the boy reveals erythematous, papular facial lesions clustered around the nose and a thickened, elevated plaque on his lumbosacral region.

During the developmental assessment, the mother expresses concern about the boy's progress. He can walk up steps with assistance and build a tower of six blocks, but he is unable to copy a cross or hop on one foot.

During the visit, the 14-year-old sister asks to speak to the physician privately. She requests a prescription for oral contraceptives, explicitly asking that her mother not be informed. Additionally, the sister complains of a mild cough, rhinorrhea, and sore throat that began 48 hours ago; her physical exam is consistent with an uncomplicated viral upper respiratory infection, yet she asks for a strong antibiotic to "knock it out quickly."

Which of the following statements regarding the management and clinical evaluation of these patients are correct? (Select all that apply)

A $9$-month-old boy is evaluated in the pediatric neurology clinic for a rapidly increasing head circumference. At his $6$-month well-child visit, his head circumference was at the $85^{\text{th}}$ percentile, but it has now crossed lines to the $99^{\text{th}}$ percentile. His weight and length continue to track along the $50^{\text{th}}$ percentile. The parents are extremely anxious; they have been reading about hydrocephalus and are concerned that he has a severe neurological delay because he only babbles, can pull himself to a stand, but cannot walk independently. On physical examination, the infant is playful and alert. The anterior fontanelle is open, soft, and flat. There is no sunsetting of the eyes, and muscle tone and deep tendon reflexes are normal. An ultrasound of the head reveals normal ventricular size and prominent subarachnoid spaces. Which of the following statements regarding this patient's presentation and management are true? (Select all that apply)

A 3-year-old boy is evaluated in the pediatric neurology clinic for progressive unsteadiness. According to his parents, he achieved independent walking at 15 months of age, but his gait has always been 'clumsy.' Over the past year, his balance has deteriorated; he now sways continuously when standing and falls frequently. His medical history is significant for three prior hospitalizations for severe sinopulmonary infections presenting with wheezing and respiratory distress. Vital signs today are: temperature 37.1°C (98.8°F), blood pressure 95/60 mmHg, pulse 105/min, and respirations 22/min. On physical examination, the child exhibits a wide-based, truncal ataxia. Extraocular movement testing reveals impaired smooth pursuit and frequent saccadic intrusions. Close inspection of the eyes reveals prominent, dilated superficial blood vessels on the bulbar conjunctivae bilaterally. Deep tendon reflexes are absent in the lower extremities. The parents mention that he is due for his scheduled childhood immunizations today. Based on the most likely underlying diagnosis, which of the following is the most appropriate recommendation regarding this patient's care?

A 13-month-old boy is brought to the emergency department by his parents after a witnessed generalized shaking episode that lasted for approximately 2 minutes. The parents report that he lost consciousness, his arms and legs stiffened, and then jerked rhythmically. Afterwards, he was very drowsy but returned to his normal baseline within 30 minutes. He has had nasal congestion, a mild cough, and a subjective fever for the past 24 hours. The patient was born at term, and his developmental history is notable for sitting independently, pulling to a stand, cruising along furniture, and using a neat pincer grasp. He can say "mama" and "dada" purposefully. He has received all age-appropriate vaccinations. In the emergency department, his temperature is $39.5^\circ\text{C}$ ($103.1^\circ\text{F}$), pulse is 145/min, and respirations are 36/min. Physical examination shows a well-appearing, interactive infant who is playing with a stethoscope. The anterior fontanelle is flat and soft, and the neck is supple without resistance to passive flexion. Tympanic membranes are clear. Lung auscultation reveals mild, diffuse wheezing and upper airway noise with no retractions. Neurologic examination shows normal muscle tone, symmetric reflexes, and no focal deficits. Which of the following is the most appropriate next step in the management of this patient?

A 10-year-old boy is currently admitted to the pediatric intensive care unit following a severe traumatic brain injury. He is intubated, mechanically ventilated, sedated, and has an external ventricular drain in place. Over the last five minutes, his intracranial pressure monitor indicates a sudden and sustained spike to 40 mm Hg (normal is less than 15 mm Hg). Simultaneously, his heart rate drops to 45/min, and his blood pressure rises to 160/90 mm Hg. Arrange the following acute management steps for suspected impending brain herniation in the most appropriate escalating sequence, proceeding from basic initial maneuvers to advanced refractory therapies.

A 7-year-old girl is rushed to the pediatric emergency department with continuous rhythmic jerking of her arms and legs that began 12 minutes ago while at school. She has no prior history of seizures. On arrival, she is unresponsive, her pulse oximetry reads 89% on room air, and she has active generalized tonic-clonic movements. A peripheral intravenous line is rapidly established by the nursing staff. Arrange the following management steps in the correct chronological sequence for the optimal acute algorithmic management of this patient's condition, from immediate priority to late-stage refractory care.

A 16-month-old girl is brought to the pediatric neurology clinic by her parents due to a frightening episode that occurred 2 days ago. While playing with her older brother, a toy was taken from her. She became enraged, cried vigorously, and then held her breath in expiration. She quickly turned blue around the lips and lost consciousness. During the 30 seconds she was unconscious, her parents witnessed two brief, symmetric jerking movements of her arms. She promptly regained consciousness and returned to her normal baseline within 2 minutes. The patient was born at term and has no significant past medical history. Her parents report she can walk independently, use a pincer grasp, and say "mama," "dada," and two other words. Vital signs are within normal limits. Physical examination demonstrates normal muscle tone, 5/5 strength, and 2+ deep tendon reflexes globally. Cardiovascular examination reveals a regular rate and rhythm with no murmurs. Which of the following is the most appropriate next step in the management of this patient?

A 24-month-old girl is brought to the pediatric neurology clinic by her parents due to a 2-week history of abnormal eye movements and severe unsteadiness. The parents report that she has sudden, erratic eye movements and frequent jerky movements of her trunk and extremities. She was previously walking independently but now refuses to walk. Past medical history is notable for a viral upper respiratory infection associated with diffuse wheezing last month. She was also seen in the urgent care clinic 48 hours ago for a fever; a urine culture from that visit just returned positive for Escherichia coli that is sensitive to ampicillin, cephalexin, and trimethoprim-sulfamethoxazole. Recent routine laboratory screening revealed a low total thyroxine (T4) level with a normal thyroid-stimulating hormone (TSH) level. During the interview, the parents express profound anxiety about her neurocognitive development, specifically noting that she is unable to ride a tricycle or speak in 3-word sentences. Physical examination reveals an alert toddler. Neurologic examination is significant for continuous, chaotic, multi-directional conjugate eye movements. She has generalized myoclonus and severe truncal ataxia. Palpation of the abdomen reveals a firm, non-tender mass in the right upper quadrant. Based on the clinical presentation and physical examination findings, what is the most appropriate next step in the management of this patient?

A 12-month-old boy is brought to the pediatric emergency department by his parents after a witnessed episode of generalized tonic-clonic movements lasting for 2 minutes. The episode occurred 45 minutes ago, and the child is now sleepy but easily arousable. He has no history of fever, trauma, or previous seizures. Vital signs are temperature 37.1°C (98.8°F), heart rate 110/min, respiratory rate 24/min, and blood pressure 90/55 mmHg. Physical examination reveals seven well-demarcated, flat, hyperpigmented macules measuring between 8 and 12 mm across his trunk and extremities, as well as distinct freckling in the bilateral axillary regions. Neurologic examination shows a drowsy child with normal muscle bulk and tone, moving all extremities equally. The parents mention they have been worried about his development recently because he only cruises along furniture and says "mama" and "dada" specifically, though he uses a mature pincer grasp.

Based on this patient's clinical presentation, which of the following statements regarding his evaluation and management are correct? (Select all that apply)

A 3-week-old boy is admitted to the neonatal intensive care unit after experiencing two episodes of rhythmic twitching of his right arm and leg, each lasting approximately one minute. He was born at term via uncomplicated spontaneous vaginal delivery to a 28-year-old primigravida. His prenatal course was unremarkable. On physical examination, the neonate is afebrile and vital signs are stable. He alerts to loud sounds and briefly tracks his mother's face. Examination of the skin reveals scattered erythematous macules with central 1-2 mm yellowish pustules over his trunk and face. A magnetic resonance imaging (MRI) scan of the brain demonstrates restricted diffusion in the left middle cerebral artery territory, consistent with an acute ischemic stroke. When discussing the patient's condition and expected care plan with the parents, which of the following statements are correct? (Select all that apply)

A 4-week-old girl is brought to the pediatric emergency department for a 3-day history of a progressively weak cry, poor feeding, and decreased spontaneous movement. Her parents report she has not had a bowel movement in 5 days. They mention she has been fussy recently, and they began dipping her pacifier in local honey to soothe her. She has also had a mild cough and rhinorrhea over the past week. On physical examination, her temperature is 37.2°C (99.0°F), pulse is 150/min, and respiratory rate is 42/min. The infant exhibits generalized hypotonia, a prominent head lag, and symmetric ptosis. Gag and deep tendon reflexes are absent. Lung auscultation reveals mild, scattered end-expiratory wheezes. Skin examination shows scattered erythematous macules and papules on her cheeks, which the parents note appeared a week ago. Which of the following is the most appropriate next step in management?

A 4-year-old girl is brought to the pediatric emergency department with a 2-day history of high fever, severe headache, and vomiting. Over the last 6 hours, she has become increasingly lethargic. Her temperature is 39.5°C (103.1°F), heart rate is 145/min, blood pressure is 112/68 mmHg, and respiratory rate is 26/min. On physical examination, she is difficult to arouse. She exhibits marked nuchal rigidity and a newly appreciated right-sided abducens nerve (cranial nerve VI) palsy. The remainder of the neurologic examination is limited by her somnolence but shows symmetric withdrawal to pain.

Arrange the following diagnostic and therapeutic steps in the most appropriate sequential order for managing this patient.

Parents of an infant currently aged 6 months bring him to the urgent care clinic. They report that he recently began having clusters of sudden, symmetric forward bending of his head and torso, along with extension of his arms. These spells primarily happen just as he is waking up. During the physical examination, the physician notes the presence of three distinct, ash-leaf shaped hypopigmented macules on the infant's trunk. Arrange the following interventions in the most appropriate chronological sequence for evaluating and managing this patient's condition.

An 8-month-old male infant presents for a routine wellness examination accompanied by his parents. The family is anxious because the child is not yet walking on his own and has not started speaking in two-word sentences. Upon physical evaluation, the clinician notes that the infant exclusively uses his right hand to grasp objects while keeping his left hand tightly clenched. Neurological assessment demonstrates increased muscle tone and hyperactive deep tendon reflexes in the left upper and lower extremities. A review of his past medical history reveals he was delivered prematurely at 29 weeks of gestation. The clinician suspects spastic hemiplegic cerebral palsy. Which of the following statements regarding this patient's clinical presentation and appropriate management are correct? (Select 2)

A 14-year-old boy is evaluated in the pediatric neurology clinic due to a 1-year history of progressive difficulty walking. He reports feeling unsteady and frequently trips over his own feet, especially in the dark. His parents note that his handwriting has become increasingly messy over the past few months. His early motor and language milestones were achieved at the appropriate ages. Vital signs are within normal limits. Neurological examination reveals a wide-based gait. When asked to stand with his feet together and eyes closed, he sways significantly and requires assistance to maintain his balance. Muscle strength is 5/5 in all extremities, but deep tendon reflexes are absent at the knees and ankles. Sensation to vibration and joint position is markedly diminished in the toes. Musculoskeletal examination is notable for bilateral high plantar arches and a lateral curvature of the thoracic spine. Which of the following is the most important next step in evaluation to screen for the most common cause of mortality in this condition?

A 6-year-old girl is brought to the pediatric emergency department by emergency medical services due to a generalized tonic-clonic seizure that has been ongoing for 10 minutes. She has a known history of generalized epilepsy and recently had a gastrointestinal illness with frequent vomiting. On arrival, her eyes are deviated upward, and she has rhythmic jerking of all four extremities. Intravenous access is successfully established by the nursing staff. Arrange the following steps in the most appropriate chronological sequence for the evaluation and management of this patient, assuming the seizure activity continues unabated despite each successive intervention.