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Pediatric Seizures
Infections
CNS
PNS
Muscle
100
A 4 yr old boy is evaluated for his 1st 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. Begin therapy with carbamazepine B. Order an EEG C. Perform lumbar puncture D. Order MRI of the brain E. Order psychometric testing
What is Order MRI of the brain? Guidelines on the evaluation and treatment of a 1st unprovoked nonfebrile seizure include a careful history and physical examination and brain imaging by head CT or MRI. Emergency head CT in the child presenting with a 1st unprovoked nonfebrile seizure is often useful for acute management of the patient. Laboratory studies are recommended in specific clinical situations: spinal tap is considered in patients with suspected meningitis or encephalitis, in children without brain swelling or papilledema, and in children in whom a history of intracranial bleeding is suspected without evidence of such on head CT. In the 2nd of these, examination of the CSF for xanthochromia is essential. CSF tests can also confirm with the appropriate clinical setup the diagnosis of glucose transporter deficiency, cerebral folate deficiency, pyridoxine dependency, pyridoxal dependency, mitochondrial disorders, nonketotic hyperglycemia, and neurotransmitter deficiencies. Electrocardiography (ECG) to rule out long QT or other cardiac dysrhythmias and other tests directed at disorders that could mimic seizures may be needed.
100
The most common cause of viral meningoencephalitis is: A. An enterovirus B. Herpes simplex virus C. An arbovirus D. Mumps virus E. A respiratory virus
What is An enterovirus? Enteroviruses are the most common cause of viral meningoencephalitis. To date, more than 80 serotypes of these small RNA viruses have been identified. The severity of infection caused by enteroviruses ranges from mild, self-limited illness with primarily meningeal involvement to severe encephalitis resulting in death or significant sequelae
100
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. Multicystic encephalomalacia B. Periventricular leukomalacia C. Normal anatomy D. Basal ganglia abnormalities E. Agenesis of the corpus callosum
What is Periventricular leukomalacia? Spastic diplegia is bilateral spasticity of the legs that is greater than in the arms. Spastic diplegia is strongly associated with damage to the immature white matter during the vulnerable period of immature oligodendroglia between 20-34 wk of gestation. However, about 15% of cases of spastic diplegia result from in utero lesions in infants who go on to delivery at term. The most common neuropathologic finding in children with spastic diplegia is periventricular leukomalacia (PVL), which is visualized on MRI in more than 70% of cases. MRI typically shows scarring and shrinkage in the periventricular white matter with compensatory enlargement of the cerebral ventricles.
100
The most frequent toxic neuropathy in children in the United States currently is due to: A. Lead B. Arsenic C. Organophosphates used in insecticides D. Various industrial and agricultural pollutants in drinking water E. Drugs used in chemotherapy
What is Drugs used in chemotherapy? Antimetabolic and immunosuppressive drugs, such as vincristine, cisplatin, and paclitaxel, produce polyneuropathies as complications of chemotherapy for neoplasms. This iatrogenic cause is the most common etiology of toxic neuropathies in children. It is usually an axonal degeneration rather than primary demyelination, unlike autoimmune neuropathies.
100
A 4 yr old boy has difficulty in climbing stairs, slow motor development, and hypertrophied calf muscles. The most likely diagnosis is: A. Myasthenia gravis B. Myotonia congenita C. Duchenne muscular dystrophy D. Hypokalemic periodic paralysis E. Central core disease
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease affecting all races and ethnic groups. Its characteristic clinical features are progressive weakness, intellectual impairment, hypertrophy of the calves, and proliferation of connective tissue in muscle. The incidence is 1:3,600 liveborn infant boys. This disease is inherited as an X-linked recessive trait.
200
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? A. APGAR score of 3 at 5 min B. Family history of epilepsy C. Clinical evidence of roseola D. Female gender E. Presence of 2 café-au-lait spots
What is Family history of epilepsy? Although about 15% of children with epilepsy have had febrile seizures, only 2-7% of children who experience febrile seizures proceed to develop epilepsy later in life. There are several predictors of epilepsy after febrile seizures - read them up in Nelson!
200
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: A. An enterovirus B. Herpes simplex virus C. Haemophilus influenzae type b D. Neisseria meningitidis E. Group B streptococci
What is Neisseria meningitidis? The most common cause of bacterial meningitis in children 1 mo-12 yr of age in the USA is Neisseria meningitidis. Bacterial meningitis caused by Streptococcus pneumoniae and Haemophilus influenzae type b has become much less common in developed countries since the introduction of universal immunization against these pathogens beginning at 2 mo of age. Demonstrating the importance of vaccination, invasive H. influenzae disease was reported in Minnesota in 2008 in 5 children with no relationship to one another and who were partially or not immunized. It is the largest number of children with invasive H. influenzae in Minnesota since 1992. Infection caused by S. pneumoniae or H. influenzae type b must be considered in incompletely vaccinated individuals or those in developing countries.
200
Migraine in children commonly has the following features EXCEPT: A. Bilateral headache B. Recurrent headache lasting 2 to 72 hours per episode C. Preceding aura D. Associated nausea and vomiting E. Daily headache with vomiting upon waking in the morning, improved once the child is out of bed
What is E? Daily headache with vomiting upon waking in the morning, improved once the child is out of bed Migraine may have a variety of associated symptoms. In younger children, nausea and vomiting may be the most obvious symptoms and often outweigh the headache itself. This often leads to the overlap with several of the gastrointestinal periodic diseases, including recurrent abdominal pain, recurrent vomiting, cyclic vomiting, and abdominal migraine. The commonality of all of these related conditions is an increased propensity for the later development of migraine. Often, early childhood recurrent vomiting may in fact be migraine, but the child is not asked about headache pain or is unable to describe headache pain. Once this becomes clear, the earlier diagnosis of a gastrointestinal disorder is no longer appropriate. When headache is present, vomiting raises the concern of a secondary headache, particularly related to increased intracranial pressure. One of the red flags for this is the daily or near daily early morning vomiting that increases in intensity as the intracranial pressure continues to build. When the headache with vomiting episodes are episodic and not worsening, it is more likely that the diagnosis is migraine. Vomiting and headache due to increased intracranial pressure are frequently present on first awakening and remit with maintenance of upright posture. In contrast, if a migraine is present on first awakening (a relatively infrequent occurrence in children), getting up and going about normal, upright activities usually makes the headache and vomiting worse.
200
A 9 yr old boy presents with paresis of the upper and lower portions of the face and loss of taste on the right side of the anterior portion of the tongue. On physical examination, the corner of the mouth droops and he is unable to close the right eye tightly. Findings on the remainder of the physical examination are normal. The most likely diagnosis is: A. Duchenne muscular dystrophy B. Fabry disease C. Familial dysautonomia (Riley-Day syndrome) D. Bell palsy E. Guillain-Barré syndrome
What is Bell palsy? Bell palsy is an acute unilateral facial nerve palsy that is not associated with other cranial neuropathies or brainstem dysfunction. It is a common disorder at all ages from infancy through adolescence and usually develops abruptly about 2 wk after a systemic viral infection. The upper and lower portions of the face are paretic, and the corner of the mouth droops. Patients are unable to close the eye on the involved side and can develop an exposure keratitis at night. Taste on the anterior 2/3 of the tongue is lost on the involved side in about 50% of cases; this finding helps to establish the anatomic limits of the lesion as being proximal or distal to the chorda tympani branch of the facial nerve. Numbness and paresthesias do not usually occur, but ipsilateral numbness of the face is reported in a few cases and probably is due to viral (especially herpes) or postviral immunologic impairment of the trigeminal and the facial nerves.
200
A 5 yr old boy has been falling frequently and cannot climb stairs as well as he did 6-12 mo ago. He is an only child, and there is no family history of neurologic disease. On examination, he has proximal weakness of the legs and enlargement of the calves but no weakness of cranial or extraocular muscles. Serum creatine kinase is 16,400 IU/L. You suspect Duchenne muscular dystrophy and request assay for a molecular marker in blood for dystrophinopathy, but the result is normal. The next diagnostic test likely to confirm or refute your clinical diagnosis is: A. EMG B. Detailed physical therapy evaluation C. A repeat of the blood marker assay in the child and also in the mother D. Muscle biopsy E. MRI study of calves and thighs
What is Muscle biopsy? Analysis of the dystrophin protein requires a muscle biopsy and is demonstrated by Western blot analysis or in tissue sections by immunohistochemical methods using either fluorescence or light microscopy of antidystrophin antisera. In classic DMD, levels of < 3% of normal are found; in BMD, the molecular weight of dystrophin is reduced to 20-90% of normal in 80% of patients, but in 15% of patients the dystrophin is of normal size but reduced in quantity, and 5% of patients have an abnormally large protein caused by excessive duplications or repeats of codons. Selective immunoreactivity of different parts of the dystrophin molecule in sections of muscle biopsy material distinguishes the Duchenne and Becker forms. The demonstration of deletions and duplications also can be made from blood samples by the more rapid PCR, which identifies as many as 98% of deletions by amplifying 18 exons but cannot detect duplications. The diagnosis can thus be confirmed at the molecular genetic level from either the muscle biopsy material or from peripheral blood, although as many as 30% of boys with DMD or BMD have a false-normal blood PCR; all cases of dystrophinopathy are detected by muscle biopsy.
300
Characteristics of simple partial seizures include all of the following EXCEPT: A. Loss of consciousness B. Versive seizures C. Duration of 10-20 sec D. No postictal state E. Abnormal EEG findings
What is Loss of consciousness? Partial seizures account for approximately 40% of seizures in children and can be divided into simple partial seizures, in which consciousness is not impaired and complex partial seizures, in which consciousness is affected. Simple and complex partial seizures can each occur in isolation, one can temporally lead to the other (usually simple to complex), or each can progress into secondary generalized seizures (tonic, clonic, atonic, or most often tonic-clonic). These can take the form of sensory seizures (auras) or brief motor seizures, the specific nature of which gives clues as to the location of the seizure focus, as described earlier. Brief motor seizures are the most common and include (focal tonic, clonic or atonic seizures. Often there is a motor (jacksonian) march from face to arm to leg, adversive head and eye movements to the contralateral side, or postictal (Todd) paralysis that can last minutes or hours, and sometimes longer. Unlike tics, motor seizures are not under partial voluntary control; seizures are more often stereotyped and less likely than tics to manifest different types in a given patient.
300
The most common sequela associated with bacterial meningitis is: A. Mental retardation B. Chronic seizure disorder C. Impaired vision D. Impaired hearing E. Behavioral disturbance
What is Impaired hearing? The most common neurologic sequelae include hearing loss, mental retardation, recurrent seizures, delay in acquisition of language, visual impairment, and behavioral problems. Sensorineural hearing loss is the most common sequela of bacterial meningitis and, usually, is already present at the time of initial presentation. It is due to cochlear infection and occurs in as many as 30% of patients with pneumococcal meningitis, 10% with meningococcal, and 5-20% of those with H. influenzae type b meningitis. Hearing loss may also be due to direct inflammation of the auditory nerve. All patients with bacterial meningitis should undergo careful audiologic assessment before or soon after discharge from the hospital. Frequent reassessment on an outpatient basis is indicated for patients who have a hearing deficit.
300
Which indicator in an infant with hypoxic ischemic encephalopathy is associated with the worst prognosis? A. Mild hypotonia B. Hyperalert state C. Hyperactive reflexes D. Decerebrate posturing E. Mydriasis
What is Decerebrate posturing? Infants with initial cord or initial blood pH < 6.7 have a 90% risk for death or severe neurodevelopmental impairment at 18 mo of age. In addition, infants with Apgar scores of 0-3 at 5 min, high base deficit (>20-25 mmol/L), decerebrate posture, and lack of spontaneous activity are also at increased risk for death or impairment. These predictor variables can be combined to determine a score that helps with prognosis.
300
A 10 yr old girl has had diplopia and ptosis and weakness of her neck flexors for 2 mo. Symptoms are worse in the evening and are usually less severe on awakening in the morning. She has no fasciculations or myalgias, and her deep tendon reflexes are 1-2+. The most likely diagnosis is: A. Hysterical weakness B. Muscular dystrophy C. Spinal muscular atrophy D. Botulism E. Myasthenia gravis
What is Myasthenia gravis? Three clinical varieties are distinguished in childhood: juvenile myasthenia gravis in late infancy and childhood, congenital myasthenia, and transient neonatal myasthenia. In the juvenile form, ptosis and some degree of extraocular muscle weakness are the earliest and most constant signs. Older children might complain of diplopia, and young children might hold open their eyes with their fingers or thumbs if the ptosis is severe enough to obstruct vision. The pupillary responses to light are preserved. Dysphagia and facial weakness are also common; and in early infancy, feeding difficulties are often the cardinal sign of myasthenia. Poor head control because of weakness of the neck flexors is also prominent. Involvement may be limited to bulbar-innervated muscles, but the disease is systemic and weakness involves limb-girdle muscles and distal muscles of the hands in most cases. Fasciculations of muscle, myalgias, and sensory symptoms do not occur. Tendon stretch reflexes may be diminished but rarely are lost. Patients are more symptomatic late in the day or when tired.
300
All of the following statements regarding Duchenne muscular dystrophy are true EXCEPT: A. It is the most common hereditary neuromuscular disease B. It is inherited as an autosomal dominant trait C. Symptoms are rarely present at birth or in early infancy D. The serum creatine kinase is consistently greatly elevated E. It is more common in males
What is It is inherited as an autosomal dominant trait? Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease affecting all races and ethnic groups. Its characteristic clinical features are progressive weakness, intellectual impairment, hypertrophy of the calves, and proliferation of connective tissue in muscle. The incidence is 1:3,600 liveborn infant boys. This disease is inherited as an X-linked recessive trait. Infant boys are only rarely symptomatic at birth or in early infancy, although some are mildly hypotonic. The serum CK level is consistently greatly elevated in DMD, even in presymptomatic stages, including at birth. The usual serum concentration is 15,000-35,000 IU/L (normal < 160 IU/L). A normal serum CK level is incompatible with the diagnosis of DMD, although in terminal stages of the disease, the serum CK value may be considerably lower than it was a few years earlier because there is less muscle to degenerate.
400
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? A. Male gender B. Age younger than 2 yr C. Down syndrome D. Family history of epilepsy E. Allergic reactions to phenobarbital
What is Age younger than 2 yr? Irreversible hepatic injury and death are particularly feared in young children (<2 yr old) who are on valproate in combination with other antiepiletic drugs particularly those who might have inborn errors of metabolism such as acidopathies and mitochondrial disease. Virtually all antiepileptic drugs can produce sleepiness, ataxia, nystagmus, and slurred speech with toxic levels.
400
A 3 yr old girl has a 2-wk history of fever associated with bifrontal headache, lethargy, and vomiting. She has a history of perioral cyanosis and dyspnea with exertion beginning in infancy. She suddenly has a 10-min focal tonic-clonic seizure. The child is obtunded and has a temperature of 100.8°F (38.2°C), pulse of 118 beats/min, and blood pressure of 96/70 mm Hg in her right arm, measured while she is supine. Perioral cyanosis is noted at rest. A harsh pansystolic murmur is heard best along the left sternal border. Examination of her eye grounds reveals bilateral papilledema. She has right-sided weakness associated with hyperreflexia and an extensor plantar reflex. The most likely cause of the hemiparesis is: A. Moyamoya disease B. Brain tumor C. Neurocysticercosis D. Methemoglobinemia E. Brain abscess
What is Brain abscess? Brain abscesses can occur in children of any age but are most common in children between 4 and 8 yr and neonates. The causes of brain abscess include embolization due to congenital heart disease with right-to-left shunts (especially tetralogy of Fallot), meningitis, chronic otitis media and mastoiditis, sinusitis, soft tissue infection of the face or scalp, orbital cellulitis, dental infections, penetrating head injuries, immunodeficiency states, and infection of ventriculoperitoneal shunts. The early stages of cerebritis and abscess formation are associated with nonspecific symptoms, including low-grade fever, headache, and lethargy. The significance of these symptoms is generally not recognized, and an oral antibiotic is often prescribed with resultant transient relief. As the inflammatory process proceeds, vomiting, severe headache, seizures, papilledema, focal neurologic signs (hemiparesis), and coma may develop. A cerebellar abscess is characterized by nystagmus, ipsilateral ataxia and dysmetria, vomiting, and headache. If the abscess ruptures into the ventricular cavity, overwhelming shock and death usually ensue.
400
A 12 yr old girl experiences acute monocular blindness of 2 days' duration. Past medical history reveals that she has had headaches for the past 3 yr that she cannot characterize, 1 brief episode of diplopia, and 1 episode of paresthesias of the feet. These episodes were not related in time, did not occur in immediate proximity to the headache, and resolved spontaneously. Findings on physical examination, including the funduscopic examination, are unremarkable other than reduced visual acuity. The most important diagnostic step is to perform: A. CT B. MRI C. Electroencephalography D. Peripheral nerve conduction tests E. A nerve biopsy
What is MRI? Demyelinating disorders of the central nervous system (CNS) cause acute or relapsing-remitting encephalopathy and other multifocal signs of brain, brainstem, and spinal cord dysfunction. Cranial MRI exhibits discrete T2 lesions in cerebral white matter, particularly periventricular regions as well as brainstem, cerebellum, and juxtacortical and deep gray matter. Alternatively, tumefactive T2 lesions are also seen. Spine MRI typically shows partial-width cord lesions restricted to 1-2 spine segments. CSF may be normal or exhibit mild pleocytosis, particularly in younger children. Like adult MS, pediatric MS can be diagnosed following 2 demyelinating episodes localizing to distinct CNS regions, lasting > 24 hr and separated by > 30 days, provided no other plausible explanation exists. Alternatively, accumulation of T2- or gadolinium-enhancing lesions in the brain or spine > 3 mo later can demonstrate dissemination in time, enabling MS diagnosis after the 1st event. Challenges arise in distinguishing pediatric MS from other demyelinating syndromes such as acute disseminated encephalomyelitis (ADEM) or neuromyelitis optica (NMO)
400
A 15 yr old boy has lost his ability to walk. On physical examination, his ankle and knee deep tendon reflexes are noted to be diminished. The weakness is greatest in peripheral muscles. Cranial nerves all are normal. One week before these symptoms arose, he returned from a camping trip. The most likely diagnosis is: A. Myasthenia gravis B. Organophosphate poisoning C. Spinal muscular atrophy D. Botulism E. Tick paralysis
What is Tick paralysis? Tick paralysis is a disorder of ACh release from axonal terminals due to a neurotoxin that blocks depolarization. It also affects large myelinated motor and sensory nerve fibers. This toxin is produced by the wood tick or dog tick, insects common in the Appalachian and Rocky Mountains of North America. The tick embeds its head into the skin, usually the scalp, and neurotoxin production is maximal about 5-6 days later. Motor symptoms include weakness, loss of coordination, and sometimes an ascending paralysis resembling Guillain-Barré syndrome. Tendon reflexes are lost. Sensory symptoms of tingling paresthesias can occur in the face and extremities. The diagnosis is confirmed by EMG and nerve conduction studies and by identifying the tick. The tick must be removed completely and the buried head not left beneath the skin. Patients then recover completely within hours or days.
400
A male neonate has respiratory distress, dysphagia, and generalized muscular hypotonia and weakness. Pregnancy was uncomplicated, but the mother reports weak fetal movements in the last trimester. Delivery at term was uneventful, and Apgar scores at 1 and 5 min were 7 and 8. On examination, he has a dolichocephalic head, high-arched palate, thin muscle mass in trunk and extremities, and undescended testes. This clinical picture is least suggestive of: A. Nemaline rod myopathy B. X-linked myotubular myopathy C. Duchenne muscular dystrophy D. Myotonic dystrophy, neonatal form E. Congenital muscular dystrophy with merosin deficiency
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease affecting all races and ethnic groups. Its characteristic clinical features are progressive weakness, intellectual impairment, hypertrophy of the calves, and proliferation of connective tissue in muscle. Infant boys are only rarely symptomatic at birth or in early infancy, although some are mildly hypotonic. Early gross motor skills, such as rolling over, sitting, and standing, are usually achieved at the appropriate ages or may be mildly delayed. Poor head control in infancy may be the 1st sign of weakness.
500
Rasmussen encephalitis is characterized by all of the following EXCEPT: A. Epilepsia partialis continua B. Hemiparesis C. No sequelae D. Abnormal EEG findings E. Possible role of CMV infection
What is No sequelae? The syndrome of Rasmussen encephalitis is a form of chronic encephalitis that manifests with unilateral intractable partial seizures, epilepsia partialis continua, and progressive hemiparesis of the affected side, with progressive atrophy of the contralateral hemisphere. The etiology is usually unknown. Some cases have been attributed to cytomegalovirus and others to anti-NMDA receptor autoantibodies.
500
One of the following is most correct regarding nuchal rigidity in pediatric meningitis A. Kernig's sign is positive when flexion of the hip to 90° causes pain with leg extension B. Passive flexion of the neck is more reliable than having the child actively flex the neck C. Nearly 90% of children with acute bacterial meningitis have positive Kernig's and Brudzinski's sign D. Brudzinski's sign is involuntary flexion of the neck following passive flexion of hip and knees E. Nuchal rigidity is reliably seen after approximately eight months of life
What is A? Brudzinski's sign occurs when there is flexion of the knees and hips occurs following passive flexion of the neck. Nuchal rigidity is not reliably seen until after about one year of life and having the child actively flex the neck has been found to be more reliable than attempting to elicit nuchal rigidity by forced flexion. Only about half of children with meningitis will have a positive Kernig's or Brudzinski's sign.
500
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. Left-sided brain tumor B. Focal seizure disorder C. Carotid artery intimal dissection D. Venous sinus thrombosis E. Cervical spinal cord injury
What is Carotid artery intimal dissection? In children the diagnosis of stroke is frequently delayed or missed. This is due to subtle and nonspecific clinical presentations, a complicated differential diagnosis, and a lack of awareness by primary care pediatric physicians. The acute onset of a focal neurologic deficit in a child is stroke until proven otherwise. The most common focal presentation is hemiparesis, but acute visual, speech, sensory, or balance deficits also occur. Children with these presentations require urgent neuroimaging and consultation with a child neurologist because emergency interventions may be indicated. Acute ischemic stroke (AIS) is a clinical and radiographic diagnosis. Three main categories of etiology should be considered: arteriopathic, cardiac, and hematologic; full investigation often reveals multiple risk factors in a given individual. Arteriopathy refers to disorders of the cerebral arteries and has emerged as the leading cause of childhood AIS, present in > 50% of children. Idiopathic arterial stenosis has been termed focal cerebral arteriopathy (FCA) and may be more specfically identified as transient cerebral arteriopathy (TCA) or postvaricella angiopathy (PVA). These diseases likely represent focal, localized, unilateral vasculitis. More diffuse or bilateral vasculitis may be primary or associated with systemic inflammatory conditions (Table 594-3). Arterial dissection can be spontaneous or post-traumatic and can affect extracranial internal carotid or vertebral arteries, or intracranial arteries.
500
A 4 yr old child with a history of poor sucking and swallowing as an infant recently experienced excessive sweating and blotchy erythema, especially when excited. Walking is clumsy. There has been new onset of episodes of cyclic vomiting lasting 24-27 hr, with retching and vomiting every 15-20 min as well as profuse sweating, blotchy erythema, and evidence of apprehension and irritability. The most likely diagnosis is: A. Duchenne muscular dystrophy B. Fabry disease C. Chronic organophosphate intoxication D. Familial dysautonomia (Riley-Day syndrome) E. Guillain-Barré syndrome
What is Familial dysautonomia (Riley-Day syndrome)? Familial dysautonomia (Riley-Day syndrome) is expressed in infancy by poor sucking and swallowing. Aspiration pneumonia can occur. Feeding difficulties remain a major symptom throughout childhood. After 3 yr of age, autonomic crises begin, usually with attacks of cyclic vomiting lasting 24-72 hr or even several days. Retching and vomiting occur every 15-20 min and are associated with hypertension, profuse sweating, blotching of the skin, apprehension, and irritability. Prominent gastric distention can occur, causing abdominal pain and even respiratory distress. Hematemesis can complicate pernicious vomiting.
500
All of the following are associated with constant muscle weakness EXCEPT: A. Hypothyroidism B. Hyperparathyroidism C. Corticosteroids D. Hyperaldosteronism (Conn syndrome)
What is Hyperaldosteronism (Conn syndrome)? Hypothyroidism, whether congenital or acquired, consistently produces hypotonia and a proximal distribution of weakness. Most patients with primary hyperparathyroidism develop weakness, fatigability, fasciculations, and muscle wasting that is reversible after removal of the parathyroid adenoma. Natural Cushing disease and iatrogenic Cushing syndrome due to exogenous corticosteroid administration can cause painless, symmetrical, progressive proximal weakness, increased serum CK levels, and a myopathic electromyogram and muscle biopsy specimen. Hyperaldosteronism (Conn syndrome) is accompanied by episodic and reversible weakness similar to that of periodic paralysis. The proximal myopathy can become irreversible in chronic cases. Elevated CK levels and even myoglobinuria sometimes occur during acute attacks.