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Floppy Infant 4--8-10 Dr Ram Kairam (lec

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Information about Floppy Infant 4--8-10 Dr Ram Kairam (lec
Education

Published on April 9, 2010

Author: aSGuest42420

Source: authorstream.com

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Floppy Infant April 8, 2010 : Floppy Infant April 8, 2010 Ram Kairam, MD Bronx-Lebanon Hospital Center DISCLOSURES : DISCLOSURES CONFLICT OF INTEREST-----------SI Fares Kokash, MD Asst Prof, El Paso, Tx Definition : Definition Floppiness is a term used to describe babies who have marked muscle hypotonia. Clinical Presentation of Muscle Hypotonia and Weakness : Clinical Presentation of Muscle Hypotonia and Weakness Posture of full abduction and external rotation of the legs as well as a flaccid extension of the arms. When traction is delivered to the arms, there is a prominent head lag. The presence of a typical ‘myopathic’ facies and paucity of facial expression are common in hypotonic infants Low-pitched cry / progressively weaker cry, readily distinguished from the vigorous cry of a normal infant. Paucity of antigravity movements Differential Diagnosis : Differential Diagnosis • Chromosomal Turner Syndrome Down Syndrome Prader- Willi Syndrome • Infection Sepsis Meningitis Encephalitis • Metabolic Hypocalcemia Hyponatremia Hypermagnesemia Hypoglycemia Hypothyroidism Aminoaciduria Gangliosidoses Hepatic Encephalopathy Reye Syndrome Upper Motor Neuron Causes (I) Differential Diagnosis : Differential Diagnosis Upper Motor Neuron Causes (II) •Toxin Drug Intoxication (e.g. Alcohol, Narcotic) Heavy metal poisoning Organophosphate Poisoning Anticholinergic exposure •Perinatal trauma Perinatal asphyxia (HIE) Hemorrhage Differential Diagnosis : Differential Diagnosis Lower Motor Neuron Causes (I) •Brainstem or spine Spinal muscular atrophy (Anterior Horn Cell Disorder) Infection •Poliomyelitis •Coxsackie Virus •Neuromuscular Junction Congenital Myasthenia Gravis Myasthenic syndrome Botulism Differential Diagnosis : Differential Diagnosis Lower Motor Neuron Causes (II) •Nerve Guillain Barre Syndrome •Muscle Muscular Dystrophy Congenital Myopathy Inflammatory Myopathy •Other Tick Paralysis Benign congenital hypotonia Floppiness in Infancy Merritt- Rowland : Floppiness in Infancy Merritt- Rowland Progressive Spinal Muscular Atrophy Congenital Myopathies Zellweger Syndrome Pompe Disease Trichopoliodystrophy Gangliosidoses (early variants) Fucosidosis (infantile variant) Infantile Ceriod Lipofuschinosis Spongy Degeneration (early) Leigh’s Syndrome Neonatal OPCA (olivopontocerebellar atrophy) Localization of Hypotonia and Weakness : Localization of Hypotonia and Weakness The neurological examination directs the clinician in localizing the site of the lesion to the - Central (UMN) - Peripheral • lower motor unit (LMN) • neuromuscular junction (NMJ) • muscles Clinical Characteristics of Muscle Hypotonia and Weakness : Clinical Characteristics of Muscle Hypotonia and Weakness Central hypotonia • Weakness is uncommon except in the acute stages, and usually it is axial weakness • Obtundation and depressed level of consciousness • Hyperreflexia Extreme hypotonia in Prader- Willi Syndrome : Extreme hypotonia in Prader- Willi Syndrome Prader- Willi Syndrome : Prader- Willi Syndrome Slide 15: • Infants with severe CNS abnormalities develop signs of hypotonia in addition to - impairment in level of consciousness - feeding difficulties - seizures - episodes of apnea - abnormal posturing - abnormalities of ocular movements and of brain stem reflexes Injury vs. aberrant development : Injury vs. aberrant development Central Hypotonia---Atonic CP Dysgenesis, Dysmyelination-----Low tone Injury, Demyelination----spasticity Clinical Characteristics of Muscle Hypotonia and Weakness : Clinical Characteristics of Muscle Hypotonia and Weakness Disorders of the LMN • The presence of profound weakness as well as hypo/areflexia Clinical Characteristics of Muscle Hypotonia and Weakness : Clinical Characteristics of Muscle Hypotonia and Weakness Neuromuscular disease • Infants are visually quite alert • combination of weakness in the antigravity limb muscles and hypo/areflexia together • Involvement of bulbar and occulomotor muscles Respiratory muscle weakness in Type 1 SMA : Respiratory muscle weakness in Type 1 SMA Slide 20: Arthrogryposis Slide 21: Kugelberg- Welander Disease Motor Neuron Disorders : Motor Neuron Disorders • Spinal muscular atrophy (Werdnig-Hoffman disease): - is AR disorder involving the degeneration of the anterior horn cells - hypotonic and weak, at birth or soon after - poverty of spontaneous movements - abnormal posture typical for a floppy infant - tongue fasciculation and absent deep tendon reflexes, mild contractures and decreased fetal movements before birth the weakness usually involves the bulbar and respiratory muscles, causing significant respiratory distress and infants develop pneumonia and respiratory failure • The diagnosis is often clinical - EMG usually shows spontaneous fibrillation potentials at rest - Muscle biopsy shows grouped neurogenic atrophy and evidence of presence of hypertrophic type I myofibres (re-innervation) - DNA based molecular diagnostic tests Clinical Characteristics of Muscle Hypotonia and Weakness : Clinical Characteristics of Muscle Hypotonia and Weakness • Such a clear distinction, however, may not always be possible and the features may overlap in conditions where the pathology affects both the CNS and peripheral nerve (Pelizaeus-Merzbacher disease, leukodystrophies) • The presence of characteristic patterns of regional weakness may favor certain etiologies Additional Clinical Clues to Differential Diagnosis : Additional Clinical Clues to Differential Diagnosis • A high arched palate is often noted in infants with neuromuscular disorders • The tongue may be large in storage disorders (acid maltase/Pompe disease) • The presence of tongue fasciculation suggests anterior horn cell involvement and denervation • Visceral enlargement (suggests storage disorders) • Inverted nipples (congenital disorders of glycosylation) Pseudo Hurler Syndrome : Pseudo Hurler Syndrome Additional Clinical Clues to Differential Diagnosis : Additional Clinical Clues to Differential Diagnosis Ptosis, external ophthalmoplegia (myasthenic syndromes) Cataracts, renal cysts, pigmentary retinopathy (peroxisomal disorders) Lens dislocation (sulfite oxidase/molybdenum cofactor deficiency) Additional Clinical Clues to Differential Diagnosis : Additional Clinical Clues to Differential Diagnosis • Arthrogryposis: the presence of severe weakness in early fetal development, which immobilizes joints, resulting in contractures. This can be a feature encountered in both neurogenic and myopathic disorders. • Neurogenic disorders are associated with a higher incidence of other congenital anomalies • Myopathic features are less likely to be associated with other defects. Slide 28: Arthrogryposis Proximal muscle involvement in SMA : Proximal muscle involvement in SMA Laboratory Investigations : Laboratory Investigations • Appropriate and cost effective use of laboratory investigations to establish a specific etiologic diagnosis is always desirable. • The history and physical assessment will point out the possible etiology and the indications for relevant diagnostic tests. Evaluation of CNS disorders : Evaluation of CNS disorders • Brain MRI • EEG • Genetic tests • Infection screen • CSF neurotransmitters Evaluation of Motor Unit Disorders : Evaluation of Motor Unit Disorders • DNA-based testing • Edrophonium chloride • Electrodiagnosis - EMG - NCS - Repetitive stimulation • Muscle biopsy • Nerve biopsy • Serum CK Laboratory investigations : Laboratory investigations • We suggest a systematic approach based on the tests currently utilized in the evaluation of infants with hypotonia: - infants with pure hypotonia of central or peripheral origins - infants with hypotonia and multisystem features (hypotonia plus) Slide 34: Hypotonia Obtundation Seizures Hyperactive DTRs Central Hypotonia CT/MRI EEG Infection screen (CSF, Blood) Birth trauma Hypoxic ischemic Encephalopathy Sepsis Cerebral dysgenesis History & Physical examination Multidisciplinary assessment (Genetics/Neurology/Metabolism) Pedigree/Family history Targeted investigations Genetic studies Karyotyping FISH Methylation studies Mutation analysis Chromosomal rearrangements Prader-Willi syndrome Congenital myotonic dystrophy Subtelomeric deletions Hypotonia Weakness Areflexia Fasciculations Weak cry Weak suck External Ophthalmoplegia Alert look Arthrogryposis Disorders of the lower motor unit Creatine kinase assay Electrophysiology Nerve conduction studies EMG Nerve biopsy ? Direct mutation analysis Muscle biopsy Inherited neuropathies Disorders of the NMJ DNA-based analysis Congenital muscular dystrophy Congenital myopathies Slide 35: Hypotonia Obtundation Seizures Hyperactive DTRs Central Hypotonia CT/MRI EEG Infection screen (CSF, Blood) Birth trauma Hypoxic ischemic Encephalopathy Sepsis Cerebral dysgenesis History & Physical examination Multidisciplinary assessment (Genetics/Neurology/Metabolism) Pedigree/Family history Targeted investigations Genetic studies Karyotyping FISH Methylation studies Mutation analysis Chromosomal rearrangements Prader-Willi syndrome Congenital myotonic dystrophy Subtelomeric deletions Hypotonia Weakness Areflexia Fasciculations Weak cry Weak suck External Ophthalmoplegia Alert look Arthropryposis Disorders of the lower motor unit Creatine kinase assay Electrophysiology Nerve conduction studies EMG Nerve biopsy ? Direct mutation analysis Muscle biopsy Inherited neuropathies Disorders of the NMJ DNA-based analysis Congenital muscular dystrophy Congenital myopathies Slide 36: The floppy infant with complex multisystem involvement CNS obtundation Abnormal odors Seizures Craniofacial dysmorphisms Multisystem features Cataracts Hepatomegaly Renal Cysts Retinopathy Arthrogryposis Lipodystrophy Cranial MRI Echocardiography Abdominal U/S Ophthalmic exam Mitochondrial & “Energy-deficient” Encephalopathies i.e. Congenital lactic acidosis Plasma Lactate levels Mitochondrial DNA mutations DNA depletion studies Respiratory chain analysis (muscle) DNA-based mutation analysis Hypotonia plus “Toxic” encephalopathies Plasma Ammonia Amino acids (blood, urine) Urine organic acids Blood acylcarnitine profile Plasma uric acid Urinary sulfites Enzyme assays (skin fibroblasts) Disorders affecting Intracellular synthesis or trafficking of complex molecules Aminoacidopathies Organic acidemias Sulfite oxidase/Molybdenum cofactor deficiency Appropriately targeted investigations Slide 37: Appropriately targeted investigations The floppy infant with complex multisystem involvement CNS obtundation Abnormal odors Seizures Craniofacial dysmorphisms Multisystem features Cataracts Hepatomegaly Renal Cysts Retinopathy Arthrogryposis Lipodystrophy Cranial MRI Echocardiography Abdominal U/S Ophthalmic exam Mitochondrial & “Energy-deficient” Encephalopathies i.e. Congenital lactic acidosis Plasma Lactate levels Mitochondrial DNA mutations DNA depletion studies Respiratory chain analysis (muscle) DNA-based mutation analysis Hypotonia plus “Toxic” encephalopathies Plasma Ammonia Amino acids (blood, urine) Urine organic acids Blood acylcarnitine profile Plasma uric acid Urinary sulfites Enzyme assays (skin fibroblasts) Disorders affecting Intracellular synthesis or trafficking of complex molecules Aminoacidopathies Organic acidemias Sulfite oxidase/Molybdenum cofactor deficiency Etiological Considerations : Etiological Considerations Central Nervous System: Chromosomal disorders Inborn errors of metabolism Structural CNS malformations: 1. Congenital malformations (lissencephaly, holoprosencephaly) 2. Acquired disorders (birth trauma, hypoxic ischemic encephalopathy) Peripheral Nervous System: Motor neuron disorders 1. SMA Disorders of peripheral nerves: 1. Peripheral neuropathies Disorders of the neuromuscular junction: 1. Myasthenia Syndromes:congenital,transient 2. Infantile botulism 3. Neonatal hypermagnesemia Disorders with prominent muscle involvement: 1. Congenital myopathies 2. Congenital muscular dystrophies 3. Metabolic myopathies 4. Congenital myotonic dystrophy Metabolic and Multisystem Diseases (I) : Metabolic and Multisystem Diseases (I) Disorders of glycogen metabolism Acid maltase deficiency Severe neonatal phosphofructokinase deficiency Severe neonatal phosphorylase deficiency Debrancher deficiency Slide 40: Primary carnitine deficiency Peroxisomal disorders Neonatal adrenoleukodystrophy Cerebrohepatorenal syndrome (Zellweger) Disorders of creatine metabolism Mitochondrial myopathies Cytochrome-c oxidase deficiency Metabolic and Multisystem Diseases (II) Structural CNS Malformations/Encephalopathies : This category includes: - congenital malformations of the nervous system (lissencephaly, holoprosencephaly) In the majority of instances in this group of disorders, hypotonia is rarely the sole feature at presentation (other features such as seizures, craniofacial dysmorphisms) - acquired disorders (birth trauma, hypoxic ischemic encephalopathy) that are associated with profound hypotonia in the neonatal period. Structural CNS Malformations/Encephalopathies Disorders of the Neuromuscular Junction : Disorders of the Neuromuscular Junction Differential diagnoses: • Congenital myasthenic syndromes • Transient myasthenic syndrome • Hypermagnesemia of the newborn • Infantile botulism Myasthenia Syndrome : Myasthenia Syndrome Infants presenting with the myasthenia syndrome share several features including: - hypotonia - facial diplegia - ptosis - feeding difficulties - apnea - respiratory difficulties - generalized weakness - progressively weakening cry Myasthenia : Myasthenia Transient Myasthenic Syndrome : Transient Myasthenic Syndrome • The disorder occurs in infants born to mothers with myasthenia gravis. • The acetylcholine receptor (AchR) antibody that causes MG crosses the placenta and exerts a blocking effect that is responsible for the interference with neuromuscular transmission. • The symptoms caused are temporary and recovers in about 6 weeks. Hypermagnesemia of the Newborn : Hypermagnesemia of the Newborn • Elevated magnesium levels can be encountered in the newborn following - treatment of maternal eclampsia with magnesium sulfate or - use of magnesium antacids in the newborn • Clinically: encephalopathic infant with hypotonia, depressed deep tendon reflexes, abdominal distension due to ileus and irregularities of cardiac rhythm. • Elevated magnesium levels result in impaired neuromuscular transmission. Infantile Botulism : Infantile Botulism • Usually occurs within 6 weeks to 1 year after birth • Usually in situations where the infant has been fed honey contaminated with spores of the C. botulinum. • The first symptom is usually constipation. • Later, listlessness, ptosis, facial weakness, decreased eye movements and feeding difficulties, and progression to respiratory failure occur. • Rapid repetitive stimulation : presence of small amplitude motor potentials and an incremental response noted to is pathognomonic. • Stool study may also be helpful in confirmation, but the results are usually delayed. Slide 48: Muscular Congenital dystrophies myopathies Course progressive weakness and wasting non-progressive or slowly progressive CK significantly elevated normal or slightly elevated Muscular dystrophies : Muscular dystrophies Slide 50: Congenital myopathies (I) Slide 51: Congenital myopathies (II) Conclusions (I) : Conclusions (I) • A detailed history and physical examination can help sort the issue of isolated hypotonia, from the hypotonic/dysmorphic infant with multisystem manifestations. Conclusions (II) : Conclusions (II) • Establishing a specific diagnosis in each case is important - anticipated outcome for the condition - genetic counseling (parents and family members). Special Thanks : Special Thanks Fares Kokash, MD Assistant Professor, El Paso

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