Hypotonia in Hypotonia in ChildrenChildren
Dr. Mohamed AbunadaDr. Mohamed AbunadaPediatric Neurology DepartmentPediatric Neurology Department
Dr. Al Rantisi Specialized Children Dr. Al Rantisi Specialized Children HospitalHospital
DefinitionDefinition
Muscle tone is defined as resistance to Muscle tone is defined as resistance to passivepassive
movement.movement.
Hypotonia means "Hypotonia means "low tonelow tone," and refers ," and refers to a physiological state in which a muscle to a physiological state in which a muscle has decreased tone, or tension.has decreased tone, or tension.
Hypotonia in Hypotonia in ChildrenChildren The maintenance of normal tone requires intact The maintenance of normal tone requires intact
central and peripheral nervous systems. central and peripheral nervous systems. Hypotonia is a common symptom of neurological Hypotonia is a common symptom of neurological
dysfunction and occurs in diseases of the brain, spinal dysfunction and occurs in diseases of the brain, spinal cord, nerves, and muscles . cord, nerves, and muscles .
One anterior horn cell and all the muscle fibers that it One anterior horn cell and all the muscle fibers that it innervates compose innervates compose a a motor unitmotor unit.. The motor unit The motor unit is the unit of force. Weakness is a symptom of all is the unit of force. Weakness is a symptom of all motor unit disorders. motor unit disorders.
A primary disorder of the anterior horn cell body is a A primary disorder of the anterior horn cell body is a neuronopathyneuronopathy,, a primary disorder of the axon or a primary disorder of the axon or its myelin covering is a its myelin covering is a neuropathyneuropathy,, and a primary and a primary disorder of the muscle fiber is a disorder of the muscle fiber is a myopathymyopathy. In . In infancy and childhood, cerebral disorders far infancy and childhood, cerebral disorders far outnumber motor unit disorders. outnumber motor unit disorders.
Hypotonia in Hypotonia in ChildrenChildren
Classification(Classification( Location) Location) BrainBrain Spinal cordSpinal cord Peripheral nervesPeripheral nerves Neuromuscular TransmissionNeuromuscular Transmission MusclesMuscles Systemic disordersSystemic disorders
Hypotonia in Hypotonia in ChildrenChildren
In supine, In supine, Frog position Their Their heads lag when are held upwhen are held up They They slip through at the shouldersat the shoulders Do Do not standnot stand upright on their legs upright on their legs Form Form inverted U shape shape in ventral suspensionin ventral suspension Lie flatLie flat when in prone positionwhen in prone position..
Signs of Signs of HypotoniaHypotonia
Signs of HypotoniaSigns of Hypotonia
Poor ability to cough and clear airway secretions.Poor ability to cough and clear airway secretions. Poor swallowing abilityPoor swallowing ability Crying character [weak, low pitched]Crying character [weak, low pitched] Paradoxical breathing pattern. Intercostal muscles Paradoxical breathing pattern. Intercostal muscles
paralyzed with intact diaphragm.paralyzed with intact diaphragm.
Signs of HypotoniaSigns of Hypotonia
Ventral suspensionVentral suspensionInverted U positionInverted U position The back hangs over the The back hangs over the
examiner's hand, and the limbs examiner's hand, and the limbs and head hang looselyand head hang loosely
Passive extension of the legsPassive extension of the legs
Pull to sit Pull to sit Head lagHead lag
Signs of HypotoniaSigns of Hypotonia
The same infant in horizontalsuspension. Note the inverted U posture.
Signs of HypotoniaSigns of Hypotonia
A 12-week-old male infant with excessive head-lag A 12-week-old male infant with excessive head-lag evident on ‘evident on ‘pull-to-sitpull-to-sit’. Note the hypotonic posture ’. Note the hypotonic posture
of the legs with external rotation.of the legs with external rotation.
Signs of HypotoniaSigns of Hypotonia
Vertical suspension:Vertical suspension: The legs will be extendedThe legs will be extended Decreased tone of the shoulder girdle allows the infant to slip through the examiner's hands Decreased tone of the shoulder girdle allows the infant to slip through the examiner's hands
Approach to Diagnosis Approach to Diagnosis The first step in diagnosis is to determine whether the The first step in diagnosis is to determine whether the
disease location is in the brain, spine, or motor unit. disease location is in the brain, spine, or motor unit. More than one site may be involved More than one site may be involved The brain and the peripheral nerves are The brain and the peripheral nerves are
concomitantly involved in some lysosomal and concomitantly involved in some lysosomal and mitochondrial disorders. mitochondrial disorders.
Brain and skeletal muscles are abnormal in infants with Brain and skeletal muscles are abnormal in infants with acid maltase deficiency and neonatal myotonic acid maltase deficiency and neonatal myotonic dystrophy.dystrophy.
Newborns with severe hypoxic-ischemic encephalopathy Newborns with severe hypoxic-ischemic encephalopathy may have hypoxic injury to the spinal cord and the brain may have hypoxic injury to the spinal cord and the brain
AssessmentAssessment
Prenatal risk factors:Prenatal risk factors: • • History of drug or teratogen exposureHistory of drug or teratogen exposure • • Presence of polyhydramniosPresence of polyhydramnios • • Maternal diseases (diabetes, epilepsy)Maternal diseases (diabetes, epilepsy) • • Parental ageParental age • • ConsanguinityConsanguinity • • Family history of neuromuscular diseaseFamily history of neuromuscular disease • • Other affected siblingsOther affected siblings
History TakingHistory TakingAny significant family history?Any significant family history?Was the Hypotonia present at birth?Was the Hypotonia present at birth?Pregnancy and delivery historyPregnancy and delivery history
Drug or teratogen exposure Drug or teratogen exposure Decreased fetal movements Decreased fetal movements Abnormal presentation Abnormal presentation Polyhydramnios/ oligohydramniosPolyhydramnios/ oligohydramnios
Apgar scores Apgar scores Resuscitation requirements Resuscitation requirements
Hypotonia in Hypotonia in ChildrenChildrenClues in CEREBRAL HypotoniaClues in CEREBRAL Hypotonia
Cerebral Hypotonia in newborns usually does Cerebral Hypotonia in newborns usually does not pose diagnostic difficulty. The history and not pose diagnostic difficulty. The history and physical examination identify the problem. physical examination identify the problem.
Normal or Brisk reflexesNormal or Brisk reflexes Other abnormal brain functions: delay, Other abnormal brain functions: delay,
seizuresseizures FistingFisting Movement through postural reflexesMovement through postural reflexes Scissoring on vertical suspensionScissoring on vertical suspension Dysmorphic featuresDysmorphic features Extra-cranial organ malformationsExtra-cranial organ malformations
Hypotonia in Hypotonia in ChildrenChildren
Clues in MOTOR UNIT HypotoniaClues in MOTOR UNIT HypotoniaDisorders of the motor unit are not associated Disorders of the motor unit are not associated
with malformations of other organs except for with malformations of other organs except for joint deformities and the mal development of joint deformities and the mal development of bone structures. bone structures.
Absent or Depressed reflexesAbsent or Depressed reflexes Intact brain functionIntact brain function Muscle atrophyMuscle atrophy FasciculationsFasciculations Failure of movement through postural reflexesFailure of movement through postural reflexes No extra-cranial organ malformationsNo extra-cranial organ malformations
ClassificationClassificationHEAD - BRAINHEAD - BRAIN
Hypoxic ischemic EncephalopathyHypoxic ischemic Encephalopathy Hypotonic Cerebral PalsyHypotonic Cerebral Palsy Benign Congenital HypotoniaBenign Congenital Hypotonia Excessive Subarachnoide spaceExcessive Subarachnoide space ArthrogyroposisArthrogyroposis Cerebellar disorders Cerebellar disorders Cortical DysgenesisCortical Dysgenesis
Cerebral dysgenesisCerebral dysgenesis ((Chronic Non progressive Chronic Non progressive
Encephalopathy)Encephalopathy) may be due to known or unknown noxious environmental may be due to known or unknown noxious environmental
agents, chromosomal disorders, or genetic defects. agents, chromosomal disorders, or genetic defects. In the absence of an acute encephalopathy, hypotonia may In the absence of an acute encephalopathy, hypotonia may
be the only symptom at birth or during early infancy. be the only symptom at birth or during early infancy. Hypotonia is usually worse at birth and improves with time. Hypotonia is usually worse at birth and improves with time. Cerebral dysgenesis is suspected when hypotonia is Cerebral dysgenesis is suspected when hypotonia is
associated with malformations in other organs or associated with malformations in other organs or abnormalities in head size and shape. abnormalities in head size and shape.
Magnetic resonance imaging (MRI) of the head is advisable Magnetic resonance imaging (MRI) of the head is advisable when cerebral malformation is suspected.when cerebral malformation is suspected.
The identification of a cerebral malformation provides The identification of a cerebral malformation provides useful information not only for prognosis, but also on the useful information not only for prognosis, but also on the feasibility of aggressive therapy to correct malformations in feasibility of aggressive therapy to correct malformations in other organs.other organs.
Hypotonic cerebral palsyHypotonic cerebral palsy
Many hypotonic children due to causes in Many hypotonic children due to causes in central nervous system are mentally retarded. central nervous system are mentally retarded. In atonic or hypotonic cerebral palsy, reflexes In atonic or hypotonic cerebral palsy, reflexes are brisk in spite of generalized flaccidity. are brisk in spite of generalized flaccidity. Floppy infant due to cerebral causes is Floppy infant due to cerebral causes is associated with lethargy, poor feeding, and associated with lethargy, poor feeding, and lack of alertness, poor Moro’s reflex, and lack of alertness, poor Moro’s reflex, and seizures during the neonatal period.seizures during the neonatal period.
Benign Congenital Benign Congenital Hypotonia Hypotonia
The term The term benign congenital hypotoniabenign congenital hypotonia is is retrospectiveretrospective and refers to infants who are and refers to infants who are hypotonic at birth or shortly thereafter and later hypotonic at birth or shortly thereafter and later have normal tone. have normal tone.
It encompasses many It encompasses many different pathological different pathological processesprocesses that affect the brain, the motor unit, or that affect the brain, the motor unit, or both. both.
Most affected children have cerebral hypotonia. Most affected children have cerebral hypotonia. An increased incidence of mental retardation, An increased incidence of mental retardation,
learning disabilities, and other sequalae of learning disabilities, and other sequalae of cerebral abnormality are evident later in life, cerebral abnormality are evident later in life, despite the recovery of normal muscle tone.despite the recovery of normal muscle tone.
Hypotonia in Hypotonia in ChildrenChildren
SPINAL CORDSPINAL CORD Spinal Cord Injury – Broken NeckSpinal Cord Injury – Broken Neck Spinal Muscular AtrophySpinal Muscular Atrophy
WERDNIG-HOFFMANNWERDNIG-HOFFMANN INFECTIONSINFECTIONS
Enterovirus - POLIOEnterovirus - POLIOTransverse MyelitisTransverse Myelitis
MASS LESIONSMASS LESIONS
Spinal Cord InjurySpinal Cord Injury Injuries in Breech PresentationInjuries in Breech Presentation Injuries to the cervical spinal cord occur almost Injuries to the cervical spinal cord occur almost
exclusively during vaginal delivery; exclusively during vaginal delivery; approximately 75% are associated with breech approximately 75% are associated with breech
presentation andpresentation and 25% with cephalic presentation. 25% with cephalic presentation. Because the injuries are always associated with a Because the injuries are always associated with a
difficult and prolonged delivery, decreased difficult and prolonged delivery, decreased consciousness is common, and hypotonia is falsely consciousness is common, and hypotonia is falsely attributed to asphyxia or cerebral trauma.attributed to asphyxia or cerebral trauma.
Radiographs of the vertebraeRadiographs of the vertebrae show no abnormalities show no abnormalities because bone displacement does not occur. because bone displacement does not occur. MRI of MRI of the spinethe spine shows intraspinal edema and hemorrhage shows intraspinal edema and hemorrhage
Spinal Cord InjurySpinal Cord Injury Injuries in Cephalic PresentationInjuries in Cephalic Presentation Twisting of the neck during midforceps Twisting of the neck during midforceps
rotation causes high cervical cord injuries in rotation causes high cervical cord injuries in cephalic presentation. cephalic presentation.
The trunk fails to rotate with the head. The trunk fails to rotate with the head. The risk is greatest when amniotic fluid is The risk is greatest when amniotic fluid is
absent because of delay from the time of absent because of delay from the time of membrane rupture to the application of membrane rupture to the application of forceps. forceps.
Werdning-Hoffman Werdning-Hoffman SyndromeSyndrome
SMA type 1SMA type 1 Anterior Horn cell (neuronal) Anterior Horn cell (neuronal)
degenerationdegeneration Progressive Weakness: Proximal > DistalProgressive Weakness: Proximal > Distal HypotoniaHypotonia AreflexiaAreflexia Atrophy / FasciculationsAtrophy / Fasciculations Intact Brain DevelopmentIntact Brain Development
SMASMA SMA is the SMA is the second most common second most common
autosomal recessive disease in the US after cystic in the US after cystic fibrosis.fibrosis.
Incidence:Incidence: Type 1: 1 per 10,000 live birthsType 1: 1 per 10,000 live births Types II and III: 1 per 24,000 birthsTypes II and III: 1 per 24,000 births
Worldwide 7.8-10 cases per 100,000 live births Worldwide 7.8-10 cases per 100,000 live births ? M:F predominance or M>F? M:F predominance or M>F No ethnic predominance.No ethnic predominance.
SMASMA The genetic defects associated with SMA The genetic defects associated with SMA
types I-III are localized on chromosome types I-III are localized on chromosome 5q11.2-13.3.5q11.2-13.3.
Mutations in the Mutations in the SMN SMN gene result in a gene result in a loss of function of the SMN protein. loss of function of the SMN protein.
Many classification systems based on Many classification systems based on inheritance, clinical, and genetic criteria. inheritance, clinical, and genetic criteria.
SMA Type 1SMA Type 1 SMA type I,SMA type I, ( (Werdnig-Hoffmann acute infantileWerdnig-Hoffmann acute infantile), ),
occur birth – 6 months (95% by 3 months)occur birth – 6 months (95% by 3 months) Severe, progressiveSevere, progressive muscle weakness and flaccid muscle weakness and flaccid
or reduced muscle tone (hypotonia). or reduced muscle tone (hypotonia). Bulbar dysfunctionBulbar dysfunction includes poor suck ability, includes poor suck ability,
reduced swallowing, and respiratory failure. reduced swallowing, and respiratory failure. Patients have Patients have no involvement of the extraocular no involvement of the extraocular
musclesmuscles, and facial weakness is often minimal or , and facial weakness is often minimal or absent.absent.
They have They have no evidence of cerebral involvementno evidence of cerebral involvement, , and infants appear and infants appear alertalert..
SMA Type 1SMA Type 1 Impaired fetal movementsImpaired fetal movements are observed in 30% are observed in 30%
of casesof cases 60% of infants with SMA type I are floppy 60% of infants with SMA type I are floppy
babies at birth. babies at birth. Prolonged cyanosisProlonged cyanosis may be may be noted noted at delivery. at delivery.
In some instances, the disease can cause In some instances, the disease can cause fulminant weakness in the first few days of life. fulminant weakness in the first few days of life. Such severe weakness and early bulbar Such severe weakness and early bulbar dysfunction -> mean survival of 5.9 months.dysfunction -> mean survival of 5.9 months.
Affected children Affected children never sit or standnever sit or stand.. In In 95% of cases95% of cases, infants , infants diedie from complications from complications
of the disease by of the disease by 18 months18 months. .
SMA Type 2SMA Type 2 SMA type IISMA type II ( (chronic infantile, sitterschronic infantile, sitters) )
usually begin between usually begin between 6 - 18 months6 - 18 months.. Most common form of SMAMost common form of SMA Most common manifestation is Most common manifestation is
developmental motor delaydevelopmental motor delay. Infants with . Infants with SMA type II often have difficulties with SMA type II often have difficulties with sitting independentlysitting independently or or failure to stand by 1 failure to stand by 1 year of age. year of age.
These children may learn to sit but will These children may learn to sit but will never be able to stand or walk.never be able to stand or walk.
SMA Type 2SMA Type 2 An unusual feature of the disease is An unusual feature of the disease is a postural a postural
tremor affecting the fingerstremor affecting the fingers. This is thought to . This is thought to be related to fasciculations in the skeletal be related to fasciculations in the skeletal musclesmuscles
Pseudohypertrophy of the gastrocnemius Pseudohypertrophy of the gastrocnemius muscle, musculoskeletal deformities, and muscle, musculoskeletal deformities, and respiratory failure can occur.respiratory failure can occur.
The lifespan of patients with SMA type II varies The lifespan of patients with SMA type II varies from 2 years to the third decade of life.from 2 years to the third decade of life. Respiratory infections account for most deaths. Respiratory infections account for most deaths.
SMA Type 3SMA Type 3 SMA type III (SMA type III (Kugelberg-Welander, Kugelberg-Welander, chronic juvenile, chronic juvenile,
walkerswalkers)) appear appear 18 months – adult18 months – adult.. Slowly progressive proximal weakness. Most Slowly progressive proximal weakness. Most can can
stand and walkstand and walk but have trouble with motor skills, but have trouble with motor skills, such such as going up and down stairs.as going up and down stairs.
Bulbar dysfunction occurs late in the disease. Bulbar dysfunction occurs late in the disease. Patients may show evidence of Patients may show evidence of pseudohypertrophy.pseudohypertrophy. The disease progresses slowly, and the overall The disease progresses slowly, and the overall
course is mildcourse is mild. Many patients have . Many patients have normal life normal life expectancies. expectancies.
SMASMA Congenital SMA with arthrogryposisCongenital SMA with arthrogryposis
(persistent contracture of joints with fixed (persistent contracture of joints with fixed abnormal posture of the limb) is a rare abnormal posture of the limb) is a rare disorder. Manifestations include disorder. Manifestations include
1.1. severe contracturessevere contractures, , 2.2. curvature of the spinecurvature of the spine, , 3.3. chest deformitychest deformity, , 4.4. respiratory problemsrespiratory problems, , 5.5. an an unusually small jawunusually small jaw, and , and 6.6. drooping upper eyelids. drooping upper eyelids.
Poliovirus InfectionPoliovirus Infection
Small RNA virus : NeurotropicSmall RNA virus : Neurotropic Destroys neurons causing paralysisDestroys neurons causing paralysis Seasonal epidemicsSeasonal epidemics Prodromal illnessProdromal illness Pain --> Asymmetric ParalysisPain --> Asymmetric Paralysis Rare but still occursRare but still occurs vaccine related : 1 in 12 millionvaccine related : 1 in 12 million wild type due to groups refusing to wild type due to groups refusing to
vaccinatevaccinate
MASS LESIONS OF SPINAL MASS LESIONS OF SPINAL CORDCORD
RareRare Intra-Abdominal TumorsIntra-Abdominal Tumors NeuroblastomaNeuroblastoma Early in InfancyEarly in Infancy
PERIPHERAL NERVESPERIPHERAL NERVES
PolyneuropathyPolyneuropathy DysmylinationDysmylination
AUTOIMMUNEAUTOIMMUNECONGENITAL / GENETICCONGENITAL / GENETIC
DysautonomiaDysautonomia
MUSCLESMUSCLESCONGENITAL MYOPATHIESCONGENITAL MYOPATHIES
DYSTROPHINOPATHIESDYSTROPHINOPATHIES DUCHENNE’SDUCHENNE’S BECKER’SBECKER’S
CENTRAL CORECENTRAL COREMYOTUBULARMYOTUBULARNEMALINE RODNEMALINE RODMYOTONIC DYSTOPHYMYOTONIC DYSTOPHY
Infantile MyositisInfantile Myositis
NEUROMUSCULAR NEUROMUSCULAR JUNCTIONJUNCTION
Toxins Toxins BotulismBotulism
MyastheniaMyastheniaCongenitalCongenitalNeonatal transitoryNeonatal transitory
INFANTILE BOTULISMINFANTILE BOTULISM
Infants usually 2 - 26 weeks oldInfants usually 2 - 26 weeks old Clostridium Botulinum --> ExotoxinClostridium Botulinum --> Exotoxin Prevents release of AcetylcholinePrevents release of Acetylcholine Cholinergic Blockade of skeletal muscleCholinergic Blockade of skeletal muscle Source of intestinal colonization usually Source of intestinal colonization usually
unclearunclear Occurs mainly between March & OctoberOccurs mainly between March & October
INFANTILE BOTULISMINFANTILE BOTULISM
Prodrome: poor feeding & Prodrome: poor feeding & constipationconstipation
Progressive bulbar & general Progressive bulbar & general weaknessweakness
Loss of deep tendon reflexesLoss of deep tendon reflexes HypotoniaHypotonia DysphagiaDysphagia Ptosis Ptosis Sluggish dilated pupilsSluggish dilated pupils
INFANTILE INFANTILE MYASTHENIAMYASTHENIA
FAMILIAL-INFANTILEFAMILIAL-INFANTILE Multiple Genetic Defects: AR + Multiple Genetic Defects: AR +
ADAD Pre & Post Synaptic AChR Pre & Post Synaptic AChR
abnormalitiesabnormalities Respiratory or feeding problems Respiratory or feeding problems
at birth at birth CONGENITALCONGENITAL
Usually Bilateral Ptosis & Usually Bilateral Ptosis & OphthalmoplegiaOphthalmoplegia
Multiple Genetic Defects: AR Multiple Genetic Defects: AR NEONATAL-TRANSITORYNEONATAL-TRANSITORY
10 - 15% of myasthenic mothers10 - 15% of myasthenic mothers
Signs of HypotoniaSigns of Hypotonia
Ptosis and external ophthalmoplegia in a floppy weak child. Ptosis and external ophthalmoplegia in a floppy weak child. Suggestive of myasthenia gravis.Suggestive of myasthenia gravis.
TreatmentTreatment
FAMILIAL-INFANTILEFAMILIAL-INFANTILEneostigmine or pyridostigmineneostigmine or pyridostigmine
CONGENITALCONGENITALAnticholinesterases for face, not for eye movementsAnticholinesterases for face, not for eye movements3, 4-Diaminopyridine for some (increases ACh)3, 4-Diaminopyridine for some (increases ACh)
NEONATAL-TRANSITORYNEONATAL-TRANSITORYSevere: exchange transfusionSevere: exchange transfusionMild - mod: 0.1% neostigmine methylsufate IM before feedsMild - mod: 0.1% neostigmine methylsufate IM before feedsor nasogastric tube 10 x parenteral doseor nasogastric tube 10 x parenteral dose
JOINTS & CONNECTIVE TISSUEJOINTS & CONNECTIVE TISSUE
Congenital Joint LaxityCongenital Joint LaxityAchondroplasiaAchondroplasiaMarfan SyndromeMarfan SyndromeEhlers-Danlos SyndromeEhlers-Danlos SyndromeOsteogenesis ImperfectaOsteogenesis Imperfecta
HYPOTONIA and HYPOTONIA and WEAKNESSWEAKNESS
in INFANTS in INFANTSSYSTEMICSYSTEMIC
GENETIC DISORDERSGENETIC DISORDERS INFECTIONINFECTION
SEPSIS SEPSIS INGESTIONSINGESTIONS
LIDOCAINELIDOCAINE
SYSTEMICSYSTEMICGENETIC DISORDERSGENETIC DISORDERS
PRADER-WILLIPRADER-WILLIANGELMAN’S SYNDROMEANGELMAN’S SYNDROMECRI DU CHATCRI DU CHATCEREBRO-HEPATO-RENAL CEREBRO-HEPATO-RENAL SYDROMESYDROME
WILLIAM’S SYNDROMEWILLIAM’S SYNDROMETRISOMY 21TRISOMY 21TRISOMY 13TRISOMY 13
HYPOTONIA and HYPOTONIA and WEAKNESSWEAKNESS
in INFANTS in INFANTS PRADER-WILLI SYNDROMEPRADER-WILLI SYNDROME HypogenitalismHypogenitalism 100% 100% CryptorchidismCryptorchidism 84%84% Decreased Fetal MovementDecreased Fetal Movement 75%75% Congenital Hip DislocationCongenital Hip Dislocation 10%10% ClubfootClubfoot 6% 6% Profound Infantile HypotoniaProfound Infantile Hypotonia Mental RetardationMental Retardation Decreased / Absent DTRsDecreased / Absent DTRs Short StatureShort Stature Obesity / Insatiable AppetiteObesity / Insatiable Appetite
SYSTEMICSYSTEMICMETABOLICMETABOLIC
MITOCHONDRIALMITOCHONDRIALCongenital Lactic ACIDOSISCongenital Lactic ACIDOSISHyperammonemiaHyperammonemiaAMINOACIDURIASAMINOACIDURIAS
NON-KETOTIC NON-KETOTIC HYPERGLYCINEMIAHYPERGLYCINEMIA
Celiac DiseaseCeliac DiseaseAnaemiaAnaemiaFAILURE TO THRIVE (FTT) FAILURE TO THRIVE (FTT)
DIAGNOSTIC STUDIESDIAGNOSTIC STUDIES
HEAD CT, MRI: Brain edema, HEAD CT, MRI: Brain edema, dysgenesis, otherdysgenesis, other
Xray, US, CT: Fracture, MassesXray, US, CT: Fracture, Masses BLOOD:BLOOD: Infection, Metabolic, Genetic Infection, Metabolic, Genetic URINE: Infection, MetabolicURINE: Infection, Metabolic CSF: Infection, MetabolicCSF: Infection, Metabolic Anal Swab: Enterovirus, C. botulinumAnal Swab: Enterovirus, C. botulinum EMG/NCV: SMA, MG, GBSEMG/NCV: SMA, MG, GBS Tensilon Test: MG vs other DxsTensilon Test: MG vs other Dxs
METABOLIC EVALUATIONMETABOLIC EVALUATION
Arterial Blood: Lactate, Pyruvate, ABGArterial Blood: Lactate, Pyruvate, ABG Venous Blood: Ammonia, Chemistries Venous Blood: Ammonia, Chemistries
CBC, CBC, Carnitine profile, Amino AcidsCarnitine profile, Amino Acids
Urine: Organic & Amino AcidsUrine: Organic & Amino Acids CSF: Lactate, Amino Acids CSF: Lactate, Amino Acids
(Glycine) (Glycine) Muscle: It DependsMuscle: It Depends
GENETIC EVALUATIONGENETIC EVALUATION
Consultation with a geneticistConsultation with a geneticist
ManagementManagement
Supportive [respiratory, gastrointestinal]Supportive [respiratory, gastrointestinal] Once the correct diagnosis is confirmed, specific Once the correct diagnosis is confirmed, specific
treatments should be offered if availabletreatments should be offered if available Physiotherapy: Physiotherapy:
mainly preventative to avoid contractures and wasting, but will not increase mainly preventative to avoid contractures and wasting, but will not increase muscle tonemuscle tone
Genetics counseling.Genetics counseling.
PrognosisPrognosis
Currently no known treatment or cure for most causes Currently no known treatment or cure for most causes of hypotonia, and objective manifestations can be life of hypotonia, and objective manifestations can be life long.long.
The outcome in any particular case of hypotonia The outcome in any particular case of hypotonia depends largely on the nature of the underlying disease.depends largely on the nature of the underlying disease.
PrognosisPrognosis
In some cases, muscle tone improves over time, or In some cases, muscle tone improves over time, or the patient may learn mechanisms that enable him the patient may learn mechanisms that enable him to overcome the most disabling aspects of the to overcome the most disabling aspects of the disorder. disorder.
Hypotonia caused by cerebellar dysfunction or Hypotonia caused by cerebellar dysfunction or motor neuron diseases can be progressive and life-motor neuron diseases can be progressive and life-threatening.threatening.
Differential Diagnosis of Infantile HypotoniaCerebral Hypotonia
1. “Benign” congenital hypotonia2. Chromosome disorders
a. Prader-Willi syndromeb. Trisomy
3. Chronic nonprogressive encephalopathya. Cerebral malformationb. Perinatal distressc. Postnatal disorders
4. Peroxisomal disordersa. Cerebrohepatorenal syndrome (Zellweger)b. Neonatal adrenoleukodystrophy
5. Other genetic defectsa. Familial dysautonomia
b. Oculocerebrorenal syndrome (Lowe)6. Other metabolic defectsa. Acid maltase deficiency (see “Metabolic Myopathies”)
b. Infantile GM, gangliosidosis
Differential Diagnosis of Infantile Hypotonia
Spinal Cord Disorders1. Hypoxic-ischemia myelopathy
2. InjuriesSpinal Muscular Atrophies
1. Acute infantile2. Chronic infantile
3. Incontinentia pigmenti4. Infantile Spinal Cord Disorders5. Neurogenic arthrogryposisPolyneuropathies1. Congential hypomyelinating neuropathy
2. Giant axonal neuropathy3. Hereditary motor-sensory neuropathies
Differential Diagnosis of Infantile Hypotonia
Disorders of Neuromuscular Transmission1. Infantile botulism
2. Familial infantile myasthenia3. Transitory myasthenia gravis
Fiber-Type Disproportion Myopathies
1. Central core disease2. Congential fiber-type disproportion myopathy3. Myotublar (centronuclear) myopathy
a. Acuteb. Chronic
4. Nemaline (rod) myopathy
Differential Diagnosis of Infantile Hypotonia
Infantile Myositis
1. Acid maltase deficiency2. Cytochrome-c-oxidase deficiency
3. Carnitine deficiency4. Phosphofructokinase deficiency5. Phosphorylase deficiency
Metabolic Myopathies
Muscular Dystrophies1. Congential muscular dystrophy
a. Cerebroocular dystrophyb. Fukuyama typec. Leukodystrophy
2. Congenital myotonic dystrophy
HYPOTONIA and HYPOTONIA and WEAKNESSWEAKNESS
in INFANTS in INFANTSBIBLIOGRAPHYBIBLIOGRAPHY Fenichel GM, Fenichel GM, Clinical Pediatric Clinical Pediatric
Neurology: A Signs and Symptoms Neurology: A Signs and Symptoms ApproachApproach, 2nd ed.WB Saunders, 2nd ed.WB Saunders
Adams RD, Victor M, Adams RD, Victor M, Principles of Principles of NeurologyNeurology, 4th ed. McGraw-Hill, 4th ed. McGraw-Hill
Menkes JH, Menkes JH, Textbook of Child Textbook of Child NeurologyNeurology, 5th ed.Williams and , 5th ed.Williams and WilkinsWilkins
Oski FA, Oski FA, Principles and Practice of Principles and Practice of PediatricsPediatrics, Lippincott, Lippincott
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