PEDIATRIC

SEMINAR

Seyed Morteza

2005M29

CASE 1 History

14-year-old girl, 10-day history of progressive weakness

3 weeks before, rhinorrhea, cough, malaise

8 days after, lower-extremity weakness and difficulty walking

Diffuse muscle pain and progressive weakness that extended to upper extremities

3 days before this, developed a hoarse voice and SOBDifficulty urinating and decreased oral intake No fever, cough, vomiting, diarrhea

EXAMINATION

Afebrile, ill-appearing Heart rate:

118 bpm Respiratory rate:

28 breaths/min Blood pressure:

168/122 mm Hg Oxygen saturation:

93% at room air Lungs auscultation:

diffuse, poor aeration Heart sounds:

normal, no murmur

NEUROLOGIAL EXAM. Muscle strength symmetric but diminished Lower extremities: 2/5, upper extremities: 4/5 Sensation intact to light touch, loss of vibratory

sense Lower extremities: No DTR,

upper extremities: diminished (1+), absent plantar reflexes

Cranial nerves II-XII intact; weak cough and gag reflex, impaired handling of secretions.

The remainder of her examination is unremarkable.

INVESTIGATIONS???

INVESTIGATIONS CBC and a basic metabolic panel:

within normal limits LP: opening pressure of 15 cm H20 CSF analysis: 2 WBC/HPF 4 RBC/HPF No organisms Protein 96 mg/dL (960 mg/L) Glucose 72 mg/dL (3.99 mmol/L) MRI brain and spine Transported to the ICU, Intubated

DIAGNOSIS

Spinal epidural abscess

Guillian-Barre syndrome

Transverse myelitits

Multiple sclerosis

DIAGNOSIS

Spinal epidural abscess

Guillian-Barre syndrome

Transverse myelitits

Multiple sclerosis

Introduction PathophysiologyEpidemiology Diffrential diagnosisInvestigationsTreatment

Georges Guillain Jean-Alexandre Barré

Revue Neurologique 1916

PATHOPHYSIOLOGY

Two types of reactions are seen in peripheral nerve injury

Injury of the neuron and its axon leads to axonal degeneration,

a. neurone cell body (neuropathy) b.or its axon (axonopathy)

•Dysfunction of the Schwann cell or damage to myelin sheath leads to a loss of myelin lead to (segmental demyelination).

Epidemiology

Frequency Age Race Sex Mortality and morbidity Recurrence

HOW TO DIAGNOSE?????

Clinical Picture

Weakness Reduced or absent reflexes Sensory disturbance Pain Cranial nerve involvement Respiratory dysfunction Dysautonomia

CSF analysis Opening pressures WBC Protein Albuminocytologic dissociation MRI Vitals Vital capacity / arterial O2 pressure

VARIANTS Miller Fisher syndrome (MFS) Acute motor axonal neuropathy (AMAN) Acute motor sensory axonal neuropathy

(AMSAN) Acute panautonomic neuropathy Bickerstaff’s brainstem encephalitis (BBE),

Miller Fisher syndrome (MFS)

Classic triad of ophthalmoplegia, ataxia, and areflexia

Diplopia usually initial symptom, followed by limb or gait ataxia

Descending paralysis Elevated antibodies to GQ1b

ELECTROPHYSIOLOGY

Serum anti-ganglioside Antibodies

Anti-GM1, GM1b, GD1a, GalNAc-GDIa

TREATMENT Supportive Care Ventilatory Support Autonomic dysfunction Noscomial infections Venous thromobosis Nutritional support Immune therapy Plasma exchange (PE) Intravenous immunoglobulin (IVIg) Corticosteroids

Prognosis

Nadir of clinical deficits at 4 weeks 5-20% have fulminant course Residual deficit Recovery at 1 year follow-up:

62% had recovered completely, 14% could walk but not run, 9% could not walk without assistance, 4% remained bed bound or ventilated, 8% died

CORTICO-SPINAL Tracts (Pyramidal T.)

Anterior Horn CellAutosomal recessive

inheritance

mutation on chromosome 5q13 S---- M-------

A------

Anterior Horn CellType 1 (Werdning- Hoffman

disease) • Clinically apparent at birth • Tongue fasciculations,

floppiness, absent tendon reflexes and gen. muscle atrophy,

• Recurrent chest infections and death before the age of 2 yrs. due to resp. failure.

Spinal Muscular Atrophy

Anterior Horn Cell

Poliomyelitis

Peripheral Nerve Guillain-Barré syndrome Tick paralysis Hereditary

Vitamin E, B12, and B1 deficiencies

Toxins  Lead, thallium, arsenic, mercury, Hexane  Acrylamide,

Organophosphates Diphtheria Collagen vascular disease Porphyria Paraneoplastic Drugs Amitriptyline  Dapsone  Hydralazine  Isoniazid  Nitrofurantoin  Vin

cristine

Neuromuscular Junction

Myasthenia gravis  

Neuromuscular Junction

Botulism

Muscle Dystrophy 

Muscle dystrophies Myotonic myopathies Inflammatory myopathies Toxic myopathies Metabolic myopathies Endocrine myopathies

CASE 2

Six-year-old girl, unable to walk without assistance for few hours

Tingling sensation in her finger toes yesterday

Six hours later stagger and fall Next day unable to walk

PHYSICAL EXAMINATION

Alert, afebrile Truncal instability, wide-based, ataxic gait Neurological examination: Muscle strength in the legs and arms 4/5 Dysmetria on finger-to-nose testing DTR diminished at the left knee, normal

elsewhere Sensations and cranial nerves normal, as was

the rectal-sphincter tone

INVESTIGATIONS

Chest x-ray Routine laboratory studies Tests for toxic substances Stool culture MRI head and neck no abnormalities CSF analysis: Protein 29 mg/dl Glucose 71 mg/dl (3.9 mmol per liter) Lymphocyte count of 2 per cubic millimeter. Gram's staining and culture negative Nerve-conduction studies

COURSE IN HOSPITAL

48 hours later lethargic and irritable Symmetric leg weakness increased, with muscle

strength of 3/5. DTR at the knees and ankles were absent Due to ascending paralysis and hypoventilation,

transferred to the ICU for intubation By 72 hours, motor strength 2/5 Listlessness, slurred speech, and bilateral ptosis

WHAT IS THE DIANOSIS????????

Spinal cord lesions Guillian-Barre syndrome Poliomyelitis Tick paralysis Botulism

Spinal cord lesions Guillian-Barre syndrome Poliomyelitis Tick paralysis Botulism

CONTENTS

MENANGITIS ACUTE ENCEPHALITIS BRAIN ABCESS SSPE

INTRODUCTION

Neural Tube Defects

Spina bifida oculta Meningocele Meningomyelocele Encephalocele Syringomyelia Dermal sinus Thered cord Anencephaly Diestematomyelia

Neuronal Migration Disorder

Lissencephaly Schizencephaly Porencephaly Holoprosencephaly Pachigyria Micropolygyria

Agenesis of corpus callosun Agenesis of cranial nerves

Microcephaly

Macrocephaly

Hydrocephaly

Cranial Anomalies

Arnold chiary malformation

b

Table 51-1. Inborn Errors of Metabolism Presenting with Neurologic Signs in Infants <3 Months Old

Generalized SeizuresEncephalopathic Coma with or

without Seizures

All disorders that cause hypoglycemia

Maple syrup urine disease

  Most hepatic glycogen storage diseases

Nonketotic hyperglycinemia

  Galactosemia, hereditary fructose intolerance

Diseases producing extreme hyperammonemia

  Fructose-1,6-bisphosphatase deficiency

  Disorders of the urea cycle

Disorders of the propionate pathway Disorders of the propionate pathway

HMG-lyase deficiency Disorders of beta oxidation

Disorders of beta oxidation Congenital lactic acidosis (PCD)

Pyruvate carboxylase deficiency (PCD)

 

Maple syrup urine disease  

Blood and Plasma Urine

Arterial blood gas Glucose

Electrolytes-anion gap pH

Glucose Ketones

Ammonia Reducing substances

Liver enzymes Organic acids

Complete blood count, differential,† and platelet count

Acylcarnitine

  Orotic acid

Lactate, pyruvate  

Organic acids  

Amino acids  

Carnitine

Disease Affected EnzymeOrgansAffected Clinical Syndrome

Neonatal Manifestations

Type I: von Gierke Glucose-6-phosphatase

Liver, kidney, GI tract, platelets

Hypoglycemia, lactic acidosis, ketosis, hepatomegaly, hypotonia, slow growth, diarrhea, bleeding disorder, gout, hypertriglyceridemia, xanthomas

Hypoglycemia, lactic acidemia, liver may not be enlarged

Type II: Pompe Lysosomal α-glucosidase

All, notably striated muscle, nerve cells

Symmetric profound muscle weakness, cardiomegaly, heart failure, shortened P-R interval

May have muscle akness, cardiomegaly, or both

Type III: Forbes Debranching enzyme Liver, muscles

Early in course hypoglycemia, ketonuria, hepatomegaly that resolves with age; may show muscle fatigue

Usually none

Type IV: Andersen Branching enzyme Liver, other tissues

Hepatic cirrhosis beginning at several months of age; early liver failure

Usually none

Type V: McArdle Muscle phosphorylase

Muscle Muscle fatigue beginning in adolescence

None

Type VI: Hers Liver phosphorylase Liver Mild hypoglycemia with hepatomegaly, ketonuria

Usually none

Type VII: Tarui Muscle phosphofructokinase

Muscle Clinical findings similar to type V None

Type VIII Phosphorylase kinase

Liver Clinical findings similar to type III, without myopathy

None