To be effective for preventing my elomeningocele, administration of folic acid needs to begin?
A newborn with my elomeningocele is being evaluated, and the parents ask about the likelihood of the development of hydrocephalus. Which of the following best describes the risk of hydrocephalus in this situation?
A 4-yr-old boy is evaluated for his first generalized tonic-clonic seizure, which lasted 10 min. There is no history of illness or fever, and findings on examination an hour after the seizure are completely normal. The most appropriate management is?
A 15-mo-old girl is evaluated for a 10-min-long generalized seizure associated with a temperature of 40oC. Which of the following factors in the history is most likely to increase the risk of future seizures?
It has been determined that sodium valproate is the best anticonvulsant medication for a 12-yr-old boy with epilepsy. His parents ask about the possibility of fatal liver necrosis if he takes the drug. Which of the following factors markedly increases the risk of this complication?
The chances of severe life-threatening skin reactions such as Stevens-Johnson syndrome are greatest with which of the following anticonvulsant medications?
A 3-yr-old boy is being evaluated after an episode at home during which he lost consciousness for 5 min; he was brought to the emergency department an hour later. On examination, which of the following factors is most helpful in distinguishing whether this episode was a seizure or syncope?
A 5-yr-old child is referred with a 6-wk history of morning headaches, often associated with vomiting. His parents have noted that during this period he has become irritable and moody. Which of the following would be most likely to be identified during the physical examination?
A 6-yr-old child with neurofibromatosis (NF1) is found to have an optic glioma on a routine MRI study, confined to the right optic nerve. Findings on the neurologic, physical, and retinal examinations are normal. The visual acuity is 20/20 bilaterally, uncorrected. Which of the following is the correct management?
A 10-yr-old girl is being evaluated for new onset of school problems, obsessive-compulsive behavior, and occasional uncontrolled movements of the hands. She has been healthy and has not taken any medications. Further evaluation is most likely to reveal?
A 5-yr-old girl is evaluated for progressive difficulty in walking, which seems to worsen during the day; her walking is much better after a good night's sleep. Examination during the afternoon shows that she has rigidity in the leg muscles and dystonic twisting of her feet. This kind of movement disorder often responds dramatically to which of the following medications?
A 2-yr-old boy with the spastic diplegia form of cerebral palsy is being evaluated. MRI of his brain is most likely to show?
A 6-mo-old female infant is evaluated after the mother notes that she is strongly left-handed and delayed in sitting and in using the right hand. MRI of the brain reveals a large porencephalic cyst in the distribution of the left middle cerebral artery. Which of the following information is most likely to contribute to establishing the cause of this disorder?
Which of the following therapies has been found to be effective in long-term follow-up for some patients with the X-linked neurodegenerative disease adrenoleukodystrophy?
A 5-yr-old girl is evaluated for severe mental retardation, microcephaly, hand-wringing movements, poor growth and weight gain, and seizures. Genetic analysis indicates a mutation in a transcription factor called MeCP2 that normally functions to silence transcription of numerous genes. This finding indicates that she has which of the following disorders?
An 11-yr-old boy had been fighting and wrestling with another boy at school and sustained several bruises on the face and neck. The next morning he woke up with inability to speak clearly and weakness on the right side of his body, greater in the arm than in the leg. The most likely cause for his neurologic disorder is?
A 5-yr-old child has a 6-mo history of increasing difficulty in walking associated with urinary incontinence. Physical examination shows an alert child with increased deep tendon reflexes, clonus and bilateral Babinski reflexes in the lower extremities, and absent deep tendon reflexes in the upper extremities associated with grade 3/5 weakness symmetrically in all extremities. The most likely diagnosis is?
A 7-mo-old girl is presented to the emergency department with gradual onset of fever, lethargy, and irritability. Her immunizations are up to date. Examination reveals a febrile infant who does not interact with the examiner and cries inconsolably. A lumbar puncture is performed, and the cerebrospinal fluid contains 1,500 white blood cells/mm3, 84% of which are granulocytes; a glucose concentration of 12 mg/dL; and a protein concentration of 70 mg/dL. Gram stain is negative. The most likely etiologic agent for this infection is?
The greatest risk of meningitis following documented occult bacteremia is associated with infection caused by?
The most common sequela associated with bacterial meningitis is?
A mother brings in her otherwise healthy 4-year-old son because of problems walking. He has not wanted to walk since this morning and only stands on tip-toe or crawls. He had an upper respiratory tract illness with a fever 1 week ago. On physical examination, the boy appears well, but he complains of leg pains bilaterally.
Preferred Response: E
A child who has an acute or subacute gait disturbance represents a medical emergency. Diagnostic evaluation must be thorough, considering causes at all neuroanatomic levels: brain/cerebrum, cerebellum, brainstem, spinal cord, root, nerve, junction, and muscle.
Prompt identification of hydrocephalus, spinal cord lesions, or Guillain-Barré syndrome can prevent lifelong neurologic damage or save a life. The boy described in the vignette has symptoms only in his legs, with both weakness and leg muscle tenderness. Such findings typically localize to muscle and suggest the diagnosis of acute myositis. An elevated serum creatine kinase value (sometimes to more than 1,000 units/L) confirms the diagnosis. In children, acute myositis most often occurs after respiratory infections such as influenza.
The condition is self-limited, rhabdomyolysis is unlikely, and no treatment is needed. A spinal cord process that necessitates neuroimaging of the spine is very unlikely for this boy. Findings suggestive of such a diagnosis include flaccid reflexes (initially), loss of bowel and bladder function, and sensory deficits with a sensory level. A lumbar puncture is used to assess for acute inflammatory demyelinating polyneuropathy, also known as Guillain-Barré syndrome. The absence of back pain and the preservation of reflexes make this diagnosis unlikely.
Nerve conduction studies/electromyography often are helpful when neuropathy is suspected in a child who has motor and sensory deficits plus loss of reflexes. The boy has no history or examination finding to support a rheumatologic disease that requires antinuclear antibody measurement.
A 14-year-old boy presents to your office because the side of his face is drooping. His mother states that he complained yesterday of decreased food taste. Today, while at school, he could not use the microscope in science class because he couldn't close his left eye, and his teacher noted that his smile was crooked.
Physical examination reveals no abnormalities and no vesicles in his ears. Mental status on neurologic examination is normal, pupil responses are normal, extraocular movements are full, and there is no nystagmus or reported double vision. He is unable to close his left eye or raise his left eyebrow, has decreased left-side nasolabial folds, and cannot close his mouth to puff out his cheeks (Item Q22). His palate and tongue movements are normal. Motor examination reveals normal proximal and distal strength in both arms and normal regular and tandem gait.
Of the following, the MOST appropriate initial diagnostic procedure is:
Preferred Response: D
Acute focal or generalized weakness is a medical emergency requiring a systematic history and neurologic examination to localize the problem. For acute focal weakness, the problem can localize to the brain, brainstem, spinal cord, anterior horn cell, root, nerve, junction, or muscle.
Often, the physical examination can localize the problem to one of these levels. In the case of acute unilateral facial weakness, as described for the boy in the vignette, the typical differential diagnosis is acute facial nerve palsy (ie, Bell palsy) or a more rostral disease process of the brainstem or brain (cerebrum, motor cortex) such as a stroke. The key diagnostic point for facial weakness is whether the weakness involves the entire side of the face or the face below the forehead. A 7th nerve palsy affects all the innervated muscles, weakening or paralyzing the entire hemi-face from forehead to chin. A lesion above the facial nerve nucleus typically weakens the face below the forehead.
The boy described in the vignette has full left-sided facial weakness, including the muscles in his forehead. Such findings localize to the facial nerve, and in this clinical. setting, neuroimaging is not revealing. Accordingly, no further testing is required. When the examination localizes a problem involving facial weakness to the brain or brainstem, brain magnetic resonance imaging (MRI) or, if MRI is not available quickly, noncontrast head computed tomography should be obtained.
Facial weakness due to an acute brain process, such as a left middle cerebral artery stroke, usually presents with involvement of both the contralateral right face and the right hand. The brainstem, specifically the pons, is the source of the facial nerve, and brainstem diseases can produce full hemi-facial weakness. However, due to the close proximity of other brainstem nuclei, a brainstem lesion affecting the left face also should affect other functions, including the left 6th nerve, which abducts the left eye. Often, sensory and motor findings on the opposite side of the body, the so-called "crossed signs," indicate brainstem disease.
The edrophonium/Tensilon® test involves administration of this acetylcholinesterase inhibitor to increase acetylcholine at the neuromuscular junction and reverse weakness. The test is used for diagnosis of myasthenia gravis. Myasthenia gravis typically produces bilateral fatiguing weakness, particularly ptosis, as well as weakness in other cranial nerves or generalized weakness.
Facial nerve palsy can be caused by a variety of infectious agents, but no specific diagnostic testing is indicated in most cases. However, in regions where Lyme disease is endemic or exposure is possible, testing for Lyme disease may be indicated. Assessment of antistreptococcal antibodies is not helpful because streptococci do not cause facial nerve palsy.
The American Academy of Neurology practice parameter states that oral steroids probably are beneficial and acyclovir possibly is beneficial for treatment of facial nerve palsy. Pediatric studies and reviews have concluded that evidence is insufficient to recommend steroids for children. However, many clinicians recommend administering a short course of oral prednisone for Bell palsy.
During the health supervision visit for a healthy 4-month-old boy, you note that his head circumference is 46 cm (>98th percentile) and his length and weight are at the 50th percentile. He has mild frontal bossing and widely split cranial sutures. The fontanelle is flat. Arm and leg movements, tone, and reflexes are normal. In reviewing prior growth parameters, you note that his head circumference was at the 75th percentile at birth and the 90th percentile at 2 months.
Of the following, the MOST helpful next diagnostic procedure is:
The boy described in the vignette is healthy, with no abnormalities of neurodevelopment, and his neurologic examination reveals no changes in mental status or evidence of focal brain abnormalities or increased intracranial pressure. However, assuming measurements are accurate, he has steadily crossed head circumference percentiles since birth. Neuroimaging is important to determine the reason for his crossing of percentiles.
The differential diagnosis includes hydrocephalus, arachnoid cyst, parenchymal brain lesions, subdural hematomas, and neurodegenerative diseases. Although the most helpful high-resolution image in this case is brain magnetic resonance imaging, sedation usually is required for such imaging in a child of this age. In contrast, head ultrasonography through the fontanelle can be performed quickly and with less risk and cost because sedation is not needed. The results can be used in planning referral to neurosurgery or neurology.
Some conditions, such as an arachnoid cyst, may not require urgent intervention, and observation suffices, with magnetic resonance imaging scheduled for a later date. Because the child does not have seizures, electroencephalography is not indicated. Lumbar puncture to rule out elevated intracranial pressure is not needed because the sutures are open.
Therefore, in a chronic process, pressure will not rise to a level that is dangerous or requires measurement. Studies of bone are not helpful. Radiography of the skull will not provide information that affects management. Three-dimensional computed tomography scan is helpful for assessing craniosynostosis if the child’s head shape is abnormal and fused ridges at the cranial sutures are palpable.
A 5-year-old boy presents for evaluation of problems with impulsivity and hyperactivity. His teacher has asked if he might have attention-deficit/hyperactivity disorder (ADHD). According to the boy’s mother, he has had progressive behavioral problems and is having trouble constructing and building with toys. No behavioral problems were noted in preschool. The family history is negative for ADHD and mood disorders.
The mother reports no disruptive changes at home or school. On physical examination, you note normal mental status and cranial nerves, crossed adduction when eliciting patellar reflexes, and sustained clonus at both ankles.
Of the following, the MOST appropriate next step is:
The most common diagnosis in school-age children who have disruptive behavior isADHD. However, physicians must be vigilant when children present with cognitive,emotional, or behavioral problems for the rare cases when such symptoms are due tocerebral pathology. Abnormalities evident on the motor examination can be a clue to such a secondary cause.
The boy described in the vignette has two "upper motor neuron signs" on his neurologic examination. The crossed adduction sign means that tapping one patellar reflex leads to adduction of the contralateral leg. Similarly, sustained ankle clonus is abnormal. Thisboy requires a prompt referral for specialty consultation with neurology. If suchconsultation cannot be obtained readily, the case should be discussed by phone with a neurologist, who may recommend initial neuroimaging, preferably brain magnetic resonance imaging.
Referral to physical therapy, psychology, and psychiatry should be deferred until theneurodiagnostic issues have been addressed. The child need not be sent to theemergency department, but clinical observation is not appropriate in the setting ofabnormal neurologic examination findings coupled with cognitive or behavioral changes.The boy in the vignette has the childhood cerebral form of adrenoleukodystrophy, ademyelinating condition with mean age of onset of 7 years that manifests initially withpoor executive function and emotional lability after a period of normal motor andcognitive development. It progresses to more severe visual, cognitive, and motorproblems involving spasticity and incoordination. A vegetative state and death follow.
The disease is X-linked, caused by a mutation in the ABCD1 gene that results indefective oxidation of long-chain fatty acids in peroxisomes. Very long-chain fatty acidsaccumulate in myelin, adrenal glands, and elsewhere. Phenotypes can be milder, with adrenal insufficiency in adrenomyeloneuropathy and spastic paraplegia.
A 15-year-old boy presents to the emergency department after an apparent seizure. He had a sudden arrest of normal activity at school, with posturing on the left side, eye deviation, and loss of consciousness for about 1 minute, followed by confusion. On physical examination, he is fully oriented and answers questions appropriately. He is afebrile. Results of cranial nerve examination, motor examination, and gait evaluation are normal.
Of the following, the procedure that is MOST likely to establish the cause of the seizure is:
Preferred Response: A
The boy described in the vignette has had a first unprovoked seizure. The semiology of
the seizure included some focality, with posturing on the left side, indicating that this
was likely a focal, or partial, seizure. In the emergency department, after resolution of
the postictal confusion, his mental status and neurologic examination results are
The most important diagnostic test for determining the cause of one or more focal-onsetseizures is a brain magnetic resonance imaging (MRI) with contrast. Although headcomputed tomography (CT) scan often is the initial neuroimaging performed in theemergency department, MRI is more sensitive to lesions that can be missed on CT scan(Item C70). Rather than duplicating costly neuroimaging studies, if the child is clinically healthy and the parents are reliable, the clinician may safely defer an emergent head CT scan and schedule the more sensitive brain MRI as a follow-up test.
Urine toxicology screening should be considered in the emergency department after afirst unprovoked seizure, but the lack of confusion or encephalopathy reported for theboy combined with his rapid return to a normal mental status argues against a drug-induced seizure.
A lumbar puncture should be obtained in a child who has a partial seizure, fever, and confusion to evaluate for encephalitides, particularly herpes encephalitis. Because this adolescent is afebrile and has a clear sensorium, cerebrospinal fluid studies and urgent neuroimaging need not be obtained.
Electroencephalography (EEG) can be helpful for determining an epilepsy syndrome diagnosis. For example, juvenile myoclonic epilepsy can present at this age and ischaracterized by myoclonus, generalized tonic-clonic seizures, and sometimes absence seizures, with generalized epileptiform discharges on EEG. However, epilepsy is a clinical diagnosis made after two unprovoked seizures. In the setting of a single focal seizure, the initial emphasis should be on determining whether a treatable focal lesion caused the seizure, for which EEG is unlikely to be helpful.
A 17-year-old boy is brought via ambulance to the emergency department due to a generalized tonic-clonic seizure that is ongoing. No medications have been administered en route, but intravenous access has been obtained. After administration of 2 mg intravenous lorazepam, the seizure stops. According to his father, the boy has epilepsy that is difficult to control, for which he takes valproic acid, oxcarbazepine, and levetiracetam.
Of the following, the MOST appropriate next diagnostic test to obtain is:
Preferred Response: C
The adolescent described in the vignette has been diagnosed with epilepsy, whichmeans that he has had two or more unprovoked seizures. More than 50% of childrenwho have epilepsy become seizure-free on a single antiseizure medication, but otherscontinue to have seizures. Rational polypharmacy using agents that have multiplemechanisms of action may be tried but usually does not render such patients seizure-free.
This boy is receiving a very broad spectrum of antiseizure medications, whichimplies that intractable epilepsy is the most likely cause for his current seizure. Thisshould be the focus of management in the emergency department. Determination ofantiseizure drug concentrations, in combination with information about the timing andamount of the last doses taken, can aid in treatment decisions, even if the hospital laboratory cannot obtain the results rapidly.
Also, low drug concentrations may indicate noncompliance, a common problem in adolescents.Serum electrolytes, calcium, magnesium, and phosphorous are frequently orderedmeasurements, but results rarely are helpful in the emergency department for the childwho has known epilepsy and has suffered a brief or prolonged seizure. Such laboratorytests should be obtained in children younger than age 6 months, in the presence of a concerning history such as chronic diarrhea, and in patients for whom there is no known cause for status epilepticus.
Similarly, electroencephalography is unlikely to be helpful for a patient already known to have epilepsy. The purpose of magnetic resonance imaging in this setting is to identify a structural cause for seizures, but neuroimaging probably has been obtained previously for a child who has intractable epilepsy, and repeat imaging has little value in the absence of any new history, such as recent trauma.
A 4-year-old boy presents to the emergency department with balance problems. He had been previously healthy, but his walking has worsened progressively for the past 2 days, with staggering and lurching. On physical examination, the boy is cooperative and alert. His muscles are not tender, and his joints are not red, swollen, or tender. His vision seems functionally normal, but there is end-gaze nystagmus in all directions. When sitting independently, his head and trunk bob. His strength appears normal, and his reflexes are normal. When asked to stand with his hands outstretched, a symmetric tremor is evident and worsens as he approaches the target on finger-to-nose testing. His gait is broad-based.
A urine toxicology screen reveals normal results. Brain magnetic resonance imaging shows no tumors or other gray or white matter lesions. Lumbar puncture shows 3 white blood cells, 2 red blood cells, protein of 20.0 g/dL, and glucose of 50.0 mg/dL (2.8 mmol/L).
Of the following, you are MOST likely to advise the child’s mother that:
Preferred Response: D
A child who experiences subacute-onset gait or balance problems should be evaluatedthoroughly in the emergency department based initially on localization obtained throughcareful examination. The differential diagnosis includes structural and immunologically mediated diseases that can be life-threatening or cause permanent neurologic injury. The bilateral symptoms with completely normal mental status and no somnolence described for the boy in the vignette makes a cerebral cause less likely.
The lateral end-gaze nystagmus, tremor on hand activation and finger-to-nose testing, trunk bobbing (titubation), and broad-based gait localize the problem to the cerebellum .The subacute onset of such symptoms strongly suggests acute cerebellar ataxia, which usually is acquired after infection or immunization. Because this is a self-limited, monophasic illness, the mother can be advised that the symptoms should resolve in weeks to months. A repeat lumbar puncture in a few days is not likely to clarify the diagnosis.
Otitis media does not cause nystagmus and ataxia, and antibiotics are not indicated (unless there is a concurrent bacterial infection). The recurrence risk for acute cerebellar ataxia is low, and it is unknown whether steroids reduce the risk further. Although clinical trials are not available to guide management, due in part to the low incidence of this condition, many clinicians empiricallytreat with a short course of high-dose steroids to reduce the duration of illness.
Although the time course makes a structural cerebellar or brainstem lesion unlikely for this patient, ordering the magnetic resonance imaging is reasonable because children in this age group may present with cerebellar and brainstem neoplasms such as astrocytomas, pontine gliomas, primitive neuroectodermal tumors (medulloblastomas), or ependymomas. Rarely, such a presentation may be associated with Guillain-Barré syndrome.
Therefore, specialty consultation is advised. For children presenting with acute ataxia, the clinician should be especially vigilant for the possibility of neuroblastoma presenting as opsoclonus myoclonus ataxia syndrome.
Case series have shown that children who have opsoclonus myoclonus often are misdiagnosed initially as having acute cerebellar ataxia. Because distinguishing these diagnoses clinically is challenging, specialty consultation is advisable.
A 5-month-old girl presents with a 1-week history of exaggerated startle movements and decreased motor and social activity. According to her parents, the child bends her head and trunk forward, extends her arms out quickly, and cries (Item Q166). Such actions may occur 10 to 20 times consecutively and have become more frequent over the past several days. She also is much less physically active and less interactive with her parents. Electroencephalography shows a diffuse, severely abnormal pattern (hypsarrhythmia).
Of the following, the MOST effective treatment for this child is:
Preferred Response: A
The child described in the vignette is experiencing infantile spasms. This epileptic encephalopathy is characterized by myoclonic-like seizures that can be subtle, such as a head drop (Item C166), or more dramatic, such as a "clasp-knife" spasm of the body with arm flexion or extension. The clustering is common, particularly at times of sleep- wake transition.
Importantly, the ictal spasms are accompanied by changes in cognitive and motor function, manifested by reduced social interaction and activity, that are related to the underlying diffuse electrical brain dysfunction. Such dysfunction produces a severely chaotic, cortical electrical pattern identified on electroencephalography as "hypsarrhythmia." Outcome is almost uniformly poor for infants who have pre-existing neurologic problems and develop infantile spasms.
Neurologic outcomes sometimes are good for those who have previously normal neurodevelopment. Infantile spasms should prompt a careful physical examination as well as neuroimaging because tuberous sclerosis may present with infantile spasms. The treatment of choice for infantile spasms, recommended in current United States practice guidelines, is adrenocorticotropic hormone. Prednisone is generally less effective. Other antiseizure medications may be useful when other seizure types develop, but these have not been shown to be effective for infantile spasms.
Phenobarbital is inexpensive, but it is sedating, and the drug often is not recommended after the neonatal period due to adverse behavioral effects. Neither phenytoin nor carbamazepine is effective against infantile spasms. Vigabatrin is unavailable in the United States but is the drug of choice in Europe and Canada, particularly for children who have infantile spasms due to tuberous sclerosis.
You are called to the neonatal intensive care unit to evaluate a newly admitted 34-week gestational age male infant who has respiratory distress. When you arrive, the baby is receiving oxygen supplementation by hood. You note that the baby’s weight, length, and head circumference are all below the 10th percentile. He has excess hair over his forehead, shoulders, and back (Item). In addition, he is very irritable, despite correction of his oxygen saturation to 95%.
Of the following, this infant’s unusual findings are MOST likely related to prenatal exposure to:
Preferred Response: A
The infant described in the vignette has features consistent with fetal alcohol spectrum disorders (FASDs). FASDs are characterized by a range of recognizable outcomes in infants exposed to alcohol prenatally, the most severe of which is fetal alcohol syndrome (FAS). FAS includes the presence of specific facial anomalies, such as short
palpebral fissures, thin vermilion border of the upper lip, and smooth philtrum, as well as evidence of pre- or postnatal growth restriction (height or weight <10th percentile) and findings consistent with abnormal brain growth (head circumference <10th percentile) or brain development (structural brain anomalies). Maternal alcohol exposure need not be confirmed to make a diagnosis of FAS, but other syndromes and conditions that have overlapping features should be ruled out.
Other categories of FASD include partial FAS with or without confirmed maternal alcohol exposure, alcohol-related birth defects, and alcohol-related neurodevelopmental disorder. Newborns affected by FAS frequently are irritable andtremulous, and although these symptoms suggest neonatal withdrawal, they cancontinue for months. Infants also can be unusually hirsute (ethnicity always must beconsidered when judging hirsutism), and this feature typically dissipates over the first 6 postnatal months (Item C7).
Although there is no well-characterized neonatal alcoholwithdrawal syndrome, the physician should be alert to signs of drug withdrawal when FASD is suspected due to the frequent concomitant use of alcohol and drugs.
Despite numerous publications describing deleterious effects of cocaine on the developing embryo and fetus, the impact of prenatal cocaine exposure remains uncertain. It is generally accepted that cocaine use in pregnancy increases the likelihood of placental abruption, and there is an increased incidence of sudden infant death syndrome in exposed infants. There also may be an increased risk for genitourinary and limb anomalies. There is no generally agreedupon "cocaine syndrome." Because cocaine often is used in combination with other drugs, cigarettes, and alcohol, it can be difficult to discern what fetal abnormalities are cocaine-related.
Marijuana use in pregnancy is not known to be associated with an increased risk for birth defects, dysmorphic features, or developmental delay in exposed offspring. Methamphetamines have not been shown to increase the risk for birth defects in exposed infants, although decreased birthweight has been reported in some exposed infants. A neonatal withdrawal syndrome that includes abnormal sleep patterns, tremulousness, poor feeding, and increased tone frequently is described.
Concern has been raised for neurodevelopmental problems in later years, but further investigation is needed. The effects of maternal smoking on pregnancy outcome continue to be an active area of study. Cigarette smoking is associated with an increased risk for miscarriage, reduced fetal weight, and abnormal placentation. There may be an increased risk for facial clefting, but cigarette smoking is not otherwise associated with major congenital anomalies.
A 5-year-old boy who has epilepsy and severe developmental delay is brought to the emergency department because of increasing somnolence over the past 12 hours. His mother reports that his activity level has decreased over the past 2 days, and this morning he was difficult to arouse. He has not been otherwise ill and has not had any seizures for the past 6 months. His antiepileptic medications include phenobarbital and oxcarbazepine.
The doses recently were increased. On physical examination, the boy is difficult to arouse and moans to painful stimulation. His heart rate is 70 beats/min, respiratory rate is 18 breaths/min, and blood pressure is 80/50 mm Hg.
Of the following, the MOST likely additional abnormality on physical examination of this child
Preferred Response: D
The patient described in the vignette is exhibiting signs and symptoms consistent with a sedative-hypnotic overdose, including coma, bradycardia, bradypnea, and hypotension. Although most antiepileptic drugs can cause lethargy at high doses, barbiturates (eg, phenobarbital) are particularly sedating. The central nervous system depressant effects of barbiturates are primarily caused by drug action on the inhibitory neurotransmitter gamma aminobutyric acid (GABA). Barbiturates both increase GABA activity and directly stimulate GABA receptors.
They also competitively inhibit glutamate, an excitatory neurotransmitter, from binding to receptors. Other physical findings that may be present in the setting of a sedative/hypnotic overdose include hypothermia, hyporeflexia, hypoactive bowel sounds, and decreased muscular activity. Pupillary light reflex is slowed, but pupillary size usually is normal.
A 13-year-old girl presents with the sudden loss of sight following the violent death of her mother. On physical examination, her pupils are round and equal and constrict briskly to light.
When instructed to do so, she is unable to touch the examiner’s hand held in front of her. There are no other neurologic findings on examination. Results of head magnetic resonance imaging are normal, and a dilated ophthalmologic evaluation reveals no abnormalities.
Of the following, the MOST likely diagnosis is:
Preferred Response: B
The girl described in the vignette is displaying a conversion disorder, which simulatesdisease (mostly acute) and is monosymptomatic. Conversion disorder occurs more frequently in females and is most common in adolescents and young adults. Symptoms are not compatible with physiologic mechanisms or anatomy.
Hypochondriasis is concern about a disease or preoccupation with illness. It often occurs in persons 20 to 30 years of age, equally in males and females, and in individuals who have had previous physical disease.
Malingering is diagnosed when an individual presents with false or exaggerated physical or psychological symptoms. The individual has a motive either to avoid a situation/punishment/responsibility, to obtain compensation, or to retaliate.
The presence of a defined goal distinguishes this from other factitious disorders. The person who has a strong belief or fear that he or she is unattractive or even repulsive despite having a normal or near-normal appearance is experiencing body dysmorphic disorder. Neither compliments nor reassurance alleviate the person’s fear.
Somatic delusions encompass the belief that something is physically wrong with the individual. The delusion may involve a medical condition or illness or a perceived deformity, such as a belief that the person’s heart is melting. This condition differs from hypochondriasis, which involves excessive worries about health that stem from nonreality-based interpretations of specific physical signs as being not normal.
You are working in the newborn nursery when the nurse asks you to evaluate a girl who has just been admitted. According to her records, her mother had good prenatal care and results of prenatal laboratory evaluations were normal. The infant is vigorous and pink. Findings on physical examination are normal except for a reddish-purple patch over her right forehead, eyelid and cheek (Item Q35).
Of the following, the condition that is MOST likely to be associated with this skin lesion is:
Preferred Response: D
Vascular lesions in the newborn may be characterized as benign vascular neoplasms such as hemangiomas or as vascular malformations such as salmon patches (also called a nevus simplex) or port wine stains (PWSs). PWSs occur commonly and usually are not associated with underlying disorders, but approximately 5% to 10% of infants who have PWSs in the distribution of the first branch of the trigeminal nerve (V1), as described for the infant in the vignette, have Sturge-Weber syndrome (SWS).
SWS is associated with seizures and meningeal and cerebral cortex abnormalities ipsilateral to the PWS, and the presence of a PWS in the V1 region is included in the diagnostic criteria for the syndrome. Eye involvement, most commonly glaucoma, also is a feature of SWS occurring in 60% of patients.
Large atypical-appearing hemangiomas (actually hemangioendotheliomas or tufted angiomas) and thrombocytopenia are seen with Kasabach-Merritt syndrome . The primary cutaneous manifestations of neurofibromatosis type 1 are café au lait macules, which may be present at birth, and neurofibromas (Item C35B), which typically appear during childhood or early adolescence. Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia) is characterized by recurrent epistaxis and cutaneous telangiectases that develop later in life.
Tuberous sclerosis complex is a neurocutaneous syndrome; the most common skin lesions are hypopigmented macules (ash leaf macules), angiofibromas (adenoma sebaceum) and shagreen patches. Other skin lesions include periungual fibromas and facial plaques.
PWSs can be treated effectively with pulsed dye laser. Laser treatment may result in complete resolution or significant lightening of the lesion, and the degree of effectiveness is related to the location of the lesion (Item C35D). Results of studies are conflicting, but lesions in the periorbital area and central forehead generally respond better than do lesions in the midface or on the limbs. Other factors associated with improved results include lesion size less than 20 cm and age at onset of therapy. Risks of treatment are small and include atrophy, hypertrophy, and hyperpigmentation of the treated area. PWSs recur in many patients after treatment.
During the health supervision visit for an 18-month-old boy, his parents express concern that he is vocalizing but not saying any real words. He is holding a small piece of string that he moves back and forth repeatedly. When you call his name, he does not respond. You point to the light in the room and say "look," but he continues to look at the string with a sideways glance. You try to get him to look at you, but he avoids eye contact.
Of the following, the MOST likely diagnosis for this boy is:
Preferred Response: B
The child described in the vignette shows clinical features of an autistic disorder, a heterogeneous neurodevelopmental disorder
Affected individuals have impairments in three specific areas: reciprocal social interactions, verbal and nonverbal communication, and range of activities or interests.The clinical presentation is specific to the child, with differing degrees of impairment in each of the three core symptom areas.
The hallmark of autism is abnormal social interactions. Children lack the ability to share interests with others (joint attention skills) using verbal or nonverbal communication. They commonly show weakness in eye contact. Their interaction may range from aloofness and an unawareness of other people to having varied or odd interaction with others. Language development commonly is delayed, and children may have immediate or delayed echolalia, unusual intonation, and repetitive speech.
Children who have autism may engage in repetitive play and show little imaginative play. They may focus on sensory aspects of objects or develop obsessions about unusual objects (stop signs, elevators). They often have difficulty handling transitions and may engage in repetitive hand or body movements. Many affected children have cognitive impairment. Children who have subthreshold clinical features (some but not all of the features) may receive the diagnosis of pervasive development disorder-not otherwise specified within the autism spectrum.
Red flags of development that warrant further evaluation for possible autism include:
• No babbling by 9 months
• No gesturing by 12 months
• No single words by 16 months
• No functional nonecholalic 2-word phrases by 24 months
• Any loss of language or social skills at any age
Neither a diagnosis of expressive language disorder nor obsessive-compulsive disorder would account for the impaired social engagement exhibited by the boy in the vignette. Individuals who have Asperger syndrome (Asperger disorder in DSM-IV TR) have impairments in social interaction and restricted interests and activities, but they have relatively preserved cognitive and language functioning, in contrast to the delays in developing language reported for the child in the vignette. Rett syndrome almost exclusively affects females and presents with a slowing of motor development between 6 and 18 months of age. Between ages 1 and 4 years, the child exhibits a decline in social interactions, cognitive abilities, purposeful hand movements, and speech.
You care for a 5-year-old girl who recently received a diagnosis of neurofibromatosis type 1 (NF1). Her parents tell you that they have read that NF1 is associated with an increased risk for cancers, and they ask you for more information.
Of the following, the MOST accurate statement regarding cancers associated with NF1 is that:
Preferred Response: E
Neurofibromatosis type 1 (NF1) is among the most common genetic conditions affecting humans, occurring in 1 in 3,000 births worldwide, regardless of ethnicity or geographic location.
NF1 is caused by mutations in the NF1 gene on chromosome 17; this gene encodes the
protein neurofibromin, which acts as a tumor suppressor by downregulating the ras
signal transduction pathway. NF1 is an autosomal dominant condition, and 50% of
cases are due to spontaneous gene mutations. Mutations in NF1 result in the
production of cells that have only half the normal amount of intracellular neurofibromin.
The subsequent somatic mutation of the normal NF1 gene leads to tumor formation in
NF1 is a highly variable condition, even within families. Diagnosis is based on the
finding of at least two features from the list of National Institutes of Health diagnostic
criteria for NF1
Using these criteria, approximately 95% of affected individuals can be diagnosed by age 11 years. Although most of the tumors associated with NF1 are benign (eg, cutaneous and subcutaneous neurofibromas), affected individuals are at increased risk for malignancy (approximately 35% to 37% lifetime risk versus approximately 30% risk in the general population).
Plexiform neurofibromas, which occur in about 25% of individuals who have NF1, are a special type of neurofibroma that may exist largely beneath the skin’s surface or entirely internally. Plexiform neurofibromas undergo malignant transformation to neurofibrosarcomas in 10% to 15% of patients who have them. Sign of malignant transformation include the sudden onset of rapid tumor growth and pain at the site. Expeditious medical evaluation is warranted in such circumstances. Lisch nodules are hamartomas that resemble freckles and are located in the iris stroma
They can be appreciated in light-colored eyes with the use of a direct ophthalmoscope;a slitlamp is helpful for detecting them in darkly pigmented irises. Although not pathognomonic for NF1, the presence of two or more is a diagnostic criterion for the condition. They are benign and have no impact on vision.
Optic glioma occurs in approximately 15% of individuals who have NF1 and typically develops before 6 years of age. Of note, optic glioma may be discovered at an older age upon head imaging performed for any purpose, but if it is not present by age 6 years, it typically does not occur. These benign tumors may cause problems due to their location along the optic nerves
Myeloproliferative and myelodysplastic leukemias are among the malignancies
associated with NF1. Individuals who have NF1 have an increased incidence of
pheochromocytoma, which typically occurs in adulthood. Individuals who have NF1 do
not appear to be at increased risk for developing the common cancers affecting the
breast, colon, and prostate.
Decreased glucose and high polymorphonuclear cell count in the CSF may be seen in:
Prenatal diagnosis of neural tube defect may be accomplished by:
Complications of long term phenytoin include:
Regarding hemiplegic migraine:
The following apply to neural tube defects:
Which of the following statements is true of upper limb nerve injuries?
Concerning obsessional neurosis:
Oligoclonal IgG in the CSF may be seen in:
The following are recognised causes of syndrome of inappropriate ADH secretion (SIADH):
The following may cause deafness in children
In X-linked severe (Duchenne) muscular dystrophy the following apply:
A 12 year old boy presents with unexplained neurological illness. The following suggest substance abuse:
The following enzymes are involved in the synthesis of the neurotransmitters with which they are paired:
In meningococcal septicaemia:
Conditions which are transmitted by means of an X-linked recessive Inheritances include:
Progressive spinal muscular atrophy of infancy presents with:
At birth a baby has:
The following are characteristic of early tetanus
As Gaucher's disease:
Regarding pain perception in children:
Convulsions in childhood may be caused by:
Hypotonia is a feature of:
Herpes simplex encephalitis:
A oncerning CNS involvement in AIDS:
Causes of confusion and seizures in patients with AIDS include:
In herpes simplex encephalitis:
The following applies to neurofibromatosis:
The median nerve supplies: