Diagnosis of Neonatal myasthenia
Neonatal myasthenia Diagnosis: Book Excerpts
Diagnostic Tests for Neonatal myasthenia: Online Medical Books
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Seizures – Neonatal:
Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)
-
Hypoxic ishemic encephalopathy
-
Bacterial meningitis/sepsis
-
Stroke
-
Cerebral dysgenesis
-
Electrolyte disturbances
–Hypoglycemia
–Hyponatremia
–Hypomagnesemia
–Hypocalcemia
-
Maternal drug use
–Drug withdrawal after delivery
–Direct effect of drugs, such as cocaine
-
Congenital infections (TORCH)
–Toxoplasmosis
–Syphilis
–Rubella
–CMV
–HSV - HSV encephalitis
-
Intracranial hemorrhage
–Subdural hemorrhage
–Intraparenchymal hemorrhage
–Intraventricular hemorrhage in the premature infant
–Subarachnoid hemorrhage
-
Urea cycle disturbances
-
Smith-Lemli-Opitz syndrome
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Nonketotic hyperglycinemia
-
Pyridoxine deficiency
-
Fructose dysmetabolism
-
Amino acidurias
–Maple syrup urine disease
–Proprionic acidemia
-
Molybdenum cofactor deficiency
-
Mitochondrial encephalopathy
-
Glucose transporter deficiency
-
Benign etiologies
–Benign idiopathic neonatal seizures (fifth day fits)
–Benign familial neonatal seizures
-
Movements commonly mistaken for seizures
–Benign neonatal sleep myoclonus
–Jitteriness (may be secondary to
hypoglycemia, drug withdrawal, or
idiopathic)
–Gastroesophageal reflux (arching, writhing)
–Breath-holding spell
Workup and Diagnosis
- History: Previous pregnancies, fetal movements, infections, blood pressure problems during pregnancy, maternal drug/medication use, family history, Apgar scores, nuchal cord, birth weight, feeding problems, association of the spells to feeding and sleep
- Physical exam
–Deformities, dermatoglyphics, skin lesions, hepatosplenomegaly, funduscopic exam, corneal opacities
–Mental status: Spontaneous level of activity of the infant; responsiveness to light, sound, and touch
–Muscle tone: Passive manipulation of limbs
–Primary neonatal reflexes (Moro, palmar grasp, tonic
neck response) and muscle stretch reflexes
-
Labs: Glucose, electrolytes, lactate, liver function tests, ammonia, TORCH titers, pyruvate, chromosomes, 17-hydroxycorticosteroid, serum amino acids, copper
-
Neuroimaging: CT or MRI
-
Lumbar puncture for meningitis and encephalitis, including HSV, glucose transporter deficiency, nonketotic hyperglycinemia
-
EEG: Critical in making the diagnosis of seizures in the newborn; monitoring of the child during one of the spells is the best way to make the diagnosis of seizures
-
If gastroesophageal reflux is suspected, pH/thermistor monitoring is helpful to document a temporal relation
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Myasthenia gravis:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Repeated muscle use over a very short time that fatigues and then improves with rest suggests a diagnosis of myasthenia gravis. Tests for this neurologic condition record the effect of exercise and subsequent rest on muscle weakness. Electromyography, with repeated neural stimulation, may help confirm this diagnosis. Acetylcholine receptor antibodies may be present in the blood.
Confirming diagnosis The classic proof of myasthenia gravis is improved muscle function after an I.V. injection of edrophonium or neostigmine (anticholinesterase drugs).
In patients with myasthenia gravis, muscle function improves within 30 to 60 seconds and lasts up to 30 minutes. Long-standing ocular muscle dysfunction may fail to respond to such testing. This test can differentiate a myasthenic crisis from a cholinergic crisis (caused by acetylcholine overactivity at the neuromuscular junction). The acetylcholine receptor antibody titer may be elevated in generalized myasthenia. Evaluation should rule out thyroid disease and thymoma.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Myasthenia gravis:
Diagnosis
(Handbook of Diseases)
Muscle fatigability that improves with rest strongly suggests a diagnosis of myasthenia gravis. Tests for this neurologic condition record the effect of exercise and subsequent rest on muscle weakness. Electromyography, with repeated neural stimulation, may help confirm this diagnosis.
The classic proof of myasthenia gravis is improved muscle function after an I.V. injection of edrophonium or neostigmine in the Tensilon test. In myasthenic patients, muscle function improves within 30 to 60 seconds and lasts up to 30 minutes. Long-standing ocular muscle dysfunction may fail to respond to such testing. This test can differentiate a myasthenic crisis from a cholinergic crisis (caused by acetylcholine overactivity at the neuromuscular junction). The acetylcholine receptor antibody titer may be elevated in generalized myasthenia. Evaluation should rule out thyroid disease and thymoma. Other autoimmune disorders, such as rheumatoid arthritis, lupus erythematosus, and polymyositis, are commonly associated with myasthenia gravis.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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