Pedia: Neuro

Introduction to Pediatric Neurology Dr. de Sagun July 27, 2006 Outline: Approach to a Neurologic Disease Congenital CNS Malformation Increase intracranial pressure Paroxysmal Disorders Psychomotor Retardation Pediatric Neuro History Chief complaint HPI System Review Past Personal History Gestational history Birth history: asphyxia Immunization Developmental history Past medical history Family history General PE Diagnostic Approach to a Neurologic Disease Questions to answer 1. Does the child have a neurologic disorder? 2. If so, where is the site of the lesion, or does it involve all part of the brain to an equal degree? Lateralize, if possible. 3. What is the lesion? Check course of the illness (acute, subacute, static or remitting) Nature of the Illness 1. Congenital: must have started early on in the age 2. Infectious: acute or accompanied by fever, dramatic onset 3. Developmental: developmental delays come in 4. Neoplastic: gradual but progressive manifestation of symptoms 5. Vascular: acute, reach the peak of symptoms immediately 6. Immunologic 7. Degenerative 8. Nutritional 9. Metabolic 10. Paroxysmal Neurodiagnostic tests 1. Lumbar puncture & CSF analysis a. Indicated in CNS infections

b. Normal values in newborn differ from infants and older child c. ICP can be determined d. Bacteriologic tests on the fluid would help in management e. C/I in cases with lesions at the site of lumbar puncture CSF Analysis Character of fluid: clear, colorless Cell count: RBC, WBC, differential count (neutrophils, lymphocytes, blast cells) Protein level Sugar level and ratio to blood sugar Gram stain, culture and antibiotic sensitivity IgG values Viral studies 2. EEG a. Indicated in seizures and paroxysmal disorders b. Determination of brain death 3. Electrodiagnostic tests a. EMG A concentric needles is electrode inserted into the muscle records the action potentials generated by muscle activity Indicated in lower motor neuron disease b. NCV Determines the conduction rate of motor nerves by stimulating the nerve at 2 points and recording the latency between each stimulus and muscle contraction Distinguishes between demyelination and axonal degeneration 4. Evoked potentials a. Visual evoked potential (VEP/VER) Useful to establish vision in children who are thought to be visually handicapped or blind b. Brainstem evoked potentials (BAER)

Checks the integrity of the auditory system 5. Neuroimaging a. Cranial ultrasound Least invasive, uses fontanels and opened sutures as windows Helpful in perinatal asphyxia, monitoring ventricular size b. CT Scan Very useful in delineation of intracranial structures; utilizes radiation Procedure of choice in acute encephalopathy, trauma, subarachnoid bleed, intracranial calcifications c. MRI Does not use radiation; delineates intracranial structures Gray-white matter delineation is excellent hence it is useful in degenerative diseases, intractable seizures and unexplained developmental disabilities Helpful in spinal cord lesions Inferior to CT scan in intracranial calcifications and acute hemorrhage 6. Other tests a. Muscle or Nerve biopsy: for accurate diagnosis of type of muscle disorders and nerve disorders b. Cerebral angiography: for vascular disorders c. Neuropsychological testing d. Metabolic tests in the urine and blood e. Antiepileptic drug assay f. Muscle enzymes Congenital Disorders of the Nervous System Malformations of the brain and spinal cord form during the NS development Intrinsic and extrinsic factors play a role Etiology of malformations is not known in 60% of cases

Understanding the normal embryonic embryonic development is vital for the understanding and classification of abnormalities Common Causes of CNS Malformations Teratogens o Physical agents: trauma, hyperthermia, radiation o Infectious agents: rubella, HSV, CMV, mumps, varicella, treponema, toxoplasma o Maternal illnesses o Maternal toxin and drug exposure Genetic Conditions Congenital Defects and the Embryonic Stages I. Neural tube formation Chiari syndrome Cranioschisis (anterior neuropore) Anencephaly Encephalocoele Meningocoele Raschischis (posterior neuropore) Meningocoele Myelomeningocoele Spina bifida II. Segmentation and Cleavage Basilar impression Holoprosencephaly III. Sulcation, Proliferation, Neural Migration, Organization Callosal agenesis Heterotopias Macrogyria/Microgyria Neuronal migration defects Cerebral anomalies Lissencephaly Schizencephaly IV. Myelination White matter hypoplasia V. Mesodermal Development Craniosynostosis Fibrous dysplasia NEURAL TUBE DEFECTS (DYSRAPHISMS) Spina bifida occulta Midline defect of the vertebral bodies without protrusion of the spinal cord or meninges Usually asymptomatic Usually at level L5 and S1 No abnormality of the spinal cord, meninges or nerve roots

Occasionally with other developmental disabilities such as syringomyelia, tethered cord A dermal sinus tract or opening may be a cause of recurrent meningitis Meningocele Meninges herniate through a defect in the posterior vertebral arches Spinal cord usually normal Fluctuant mass seen in the midline Surgery if with leaking CSF or if only thin skin covering CT scan or MRI prior to surgery Myelomeningocele Most severe form of dysraphism Spinal cord and meninges protrude into the defect Etiology: unknown o Drugs, nutritional, genetics have been implicated Clinical manifestation o Dysfunction of many organs as skin, gut, skeleton, peripheral nervous system May be associated with hydrocephalus (Chiari Type 2) Management: multidisciplinary Encephaloceles Affect the skull through a midline bony defect (cranium bifidum) Cranial meningocele Cranial encephalocele may be associated with other defects as aqueductal stenosis, Dandy-Walker malformation, or Chiari malformation Anencephaly Primitive brain with connective tissues, hypoplastic pituitary, absent cerebrum & cerebellum Death in several days DISORDERS OF NEURONAL MIGRATION Lissencephaly or Agyria Absence of cerebral convolutions and poorly formed sylvian fissure with appearance of a 3-4 month fetal brain With a 4-layered cortex instead of 6 Clinical manifestations o Failure to thrive, MR, seizure disorder, chromosomal features (Miller-Dieker Syndrome)

o CT and MRI: smooth brain Schizencephaly Unilateral or bilateral clefts with the cerebral hemispheres due to an abnormality in morphogenesis Clinical manifestations o MR, seizures, microcephaly, spastic paresis Porencephaly Presence of cyst or cavities within the brain Clinical manifestations o Often associated with other brain malformations as microcephaly, MR, optic atrophy, seizures Cysts usually unilateral; usually do not communicate with a fluid-filled cavity Holoprosencephaly Results from defective cleavage Patients may have a single ventricle, other malformations Mortality is high Microcephaly Head size > 3SD below the mean for age and sex Types o Primary: genetic o Secondary: non-genetic Hydrocephalus Results from conditions with impaired circulation and absorption of the CSF or increased production by a choroid plexus papilloma Types o Obstructive or noncommunicating o Non-obstructive or communicating Clinical manifestations o Enlarging head with big fontanel, wide sutures, prominent scalp veins and setting sun signs o Long tract signs o Irritability, lethargy, vomiting o Gradual change in personality; deterioration in academic performance Diagnosis o Complete PE and NE o Ultrasound

o

MRI/CT scan

Craniosynostosis Premature closure of the cranial sutures o Primary: due to abnormalities in the skull development o Secondary: failure of brain growth and expansion Cause: Primary – genetic abnormalities Diagnosis: skull x-ray MANAGEMENT APPROACH 1. Complete history and PE 2. Identify the cause 3. Neurodiagnostics 4. Management: multidisciplinary team 5. Family support Transcribed by: Jobern Hipol Slides courtesy of: Faye delos Santos “All endings are also beginnings. We just don’t know it at the time…” – Mitch Albom “The Five People You Meet in Heaven”