Hypotonia in children

Hypotonia in ChildrenHypotonia in Children
Dr. Mohamed AbunadaDr. Mohamed Abunada
Pediatric Neurology DepartmentPediatric Neurology Department
Dr. Al Rantisi Specialized Children HospitalDr. Al Rantisi Specialized Children Hospital

DefinitionDefinition
Muscle tone is defined as resistance to passiveMuscle tone is defined as resistance to passive
movement.movement.
 Hypotonia means "Hypotonia means "low tonelow tone," and refers to a," and refers to a
physiological state in which a muscle has decreasedphysiological state in which a muscle has decreased
tone, or tension.tone, or tension.

 The maintenance of normal tone requires intact central andThe maintenance of normal tone requires intact central and
peripheral nervous systems.peripheral nervous systems.
 Hypotonia is a common symptom of neurological dysfunctionHypotonia is a common symptom of neurological dysfunction
and occurs in diseases of the brain, spinal cord, nerves, andand occurs in diseases of the brain, spinal cord, nerves, and
muscles .muscles .
 One anterior horn cell and all the muscle fibers that it innervatesOne anterior horn cell and all the muscle fibers that it innervates
composecompose aa motor unitmotor unit.. The motor unit is the unit of force.The motor unit is the unit of force.
Weakness is a symptom of all motor unit disorders.Weakness is a symptom of all motor unit disorders.
 A primary disorder of the anterior horn cell body is aA primary disorder of the anterior horn cell body is a
neuronopathyneuronopathy,, a primary disorder of the axon or its myelina primary disorder of the axon or its myelin
covering is acovering is a neuropathyneuropathy,, and a primary disorder of the muscleand a primary disorder of the muscle
fiber is afiber is a myopathymyopathy. In infancy and childhood, cerebral disorders. In infancy and childhood, cerebral disorders
far outnumber motor unit disorders.far outnumber motor unit disorders.

 Classification(Classification( Location)Location)
 BrainBrain
 Spinal cordSpinal cord
 Peripheral nervesPeripheral nerves
 Neuromuscular TransmissionNeuromuscular Transmission
 MusclesMuscles
 Systemic disordersSystemic disorders

 In supine,In supine, FrogFrog positionposition
 TheirTheir heads lagheads lag when are held upwhen are held up
 TheyThey slip throughslip through at the shouldersat the shoulders
 DoDo not standnot stand upright on their legsupright on their legs
 FormForm inverted Uinverted U shapeshape in ventral suspensionin ventral suspension
 Lie flatLie flat when in prone positionwhen in prone position..
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 musclesParadoxical breathing pattern. Intercostal muscles
paralyzed with intact diaphragm.paralyzed with intact diaphragm.

Ventral suspensionVentral suspension
Inverted U positionInverted U position
 The back hangs over theThe back hangs over the
examiner's hand, and the limbsexaminer's hand, and the limbs
and head hang looselyand head hang loosely
 Passive extension of the legsPassive extension of the legs
Pull to sitPull to sit
 Head lagHead lag

The same infant in horizontal
suspension. Note the inverted U posture.

A 12-week-old male infant with excessive head-lagA 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.

Vertical suspension:Vertical suspension:
 The legs will be extendedThe legs will be extended
 Decreased tone of the shoulder girdle allows the infant to slip throughDecreased tone of the shoulder girdle allows the infant to slip through
the examiner's handsthe examiner's hands

Approach to DiagnosisApproach to Diagnosis
 The first step in diagnosis is to determine whether the diseaseThe first step in diagnosis is to determine whether the disease
location is in the brain, spine, or motor unit.location is in the brain, spine, or motor unit.
 More than one site may be involvedMore than one site may be involved
 The brain and the peripheral nerves are concomitantlyThe brain and the peripheral nerves are concomitantly
involved in some lysosomal and mitochondrial disorders.involved in some lysosomal and mitochondrial disorders.
 Brain and skeletal muscles are abnormal in infants with acidBrain and skeletal muscles are abnormal in infants with acid
maltase deficiency and neonatal myotonic dystrophy.maltase deficiency and neonatal myotonic dystrophy.
 Newborns with severe hypoxic-ischemic encephalopathy mayNewborns with severe hypoxic-ischemic encephalopathy may
have hypoxic injury to the spinal cord and the brainhave 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 Taking
Any 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 exposureDrug or teratogen exposure
Decreased fetal movementsDecreased fetal movements
Abnormal presentationAbnormal presentation
Polyhydramnios/ oligohydramniosPolyhydramnios/ oligohydramnios
 Apgar scoresApgar scores
 Resuscitation requirementsResuscitation requirements

Clues in CEREBRAL HypotoniaClues in CEREBRAL Hypotonia
Cerebral Hypotonia in newborns usually does not poseCerebral Hypotonia in newborns usually does not pose
diagnostic difficulty. The history and physical examinationdiagnostic difficulty. The history and physical examination
identify the problem.identify the problem.
 Normal or Brisk reflexesNormal or Brisk reflexes
 Other abnormal brain functions: delay, seizuresOther abnormal brain functions: delay, seizures
 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

Clues in MOTOR UNIT HypotoniaClues in MOTOR UNIT Hypotonia
Disorders of the motor unit are not associated withDisorders of the motor unit are not associated with
malformations of other organs except for joint deformitiesmalformations of other organs except for joint deformities
and the mal development of bone structures.and the mal development of 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

ClassificationClassification
HEAD - BRAINHEAD - BRAIN
 Hypoxic ischemic EncephalopathyHypoxic ischemic Encephalopathy
 Hypotonic Cerebral PalsyHypotonic Cerebral Palsy
 Benign Congenital HypotoniaBenign Congenital Hypotonia
 Excessive Subarachnoide spaceExcessive Subarachnoide space
 ArthrogyroposisArthrogyroposis
 Cerebellar disordersCerebellar disorders
 Cortical DysgenesisCortical Dysgenesis

Cerebral dysgenesisCerebral dysgenesis
((Chronic Non progressive Encephalopathy)Chronic Non progressive Encephalopathy)
 may be due to known or unknown noxious environmental agents,may be due to known or unknown noxious environmental agents,
chromosomal disorders, or genetic defects.chromosomal disorders, or genetic defects.
 In the absence of an acute encephalopathy, hypotonia may be the onlyIn the absence of an acute encephalopathy, hypotonia may be the only
symptom at birth or during early infancy.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 associated withCerebral dysgenesis is suspected when hypotonia is associated with
malformations in other organs or abnormalities in head size and shape.malformations in other organs or abnormalities in head size and shape.
 Magnetic resonance imaging (MRI) of the head is advisable whenMagnetic resonance imaging (MRI) of the head is advisable when
cerebral malformation is suspected.cerebral malformation is suspected.
 The identification of a cerebral malformation provides usefulThe identification of a cerebral malformation provides useful
information not only for prognosis, but also on the feasibility ofinformation not only for prognosis, but also on the feasibility of
aggressive therapy to correct malformations in other organs.aggressive therapy to correct malformations in other organs.

Hypotonic cerebral palsyHypotonic cerebral palsy
Many hypotonic children due to causes in central nervousMany hypotonic children due to causes in central nervous
system are mentally retarded.system are mentally retarded.
In atonic or hypotonic cerebral palsy, reflexes are brisk inIn atonic or hypotonic cerebral palsy, reflexes are brisk in
spite of generalized flaccidity.spite of generalized flaccidity.
Floppy infant due to cerebral causes is associated withFloppy infant due to cerebral causes is associated with
lethargy, poor feeding, and lack of alertness, poor Moro’slethargy, poor feeding, and lack of alertness, poor Moro’s
reflex, and seizures during the neonatal period.reflex, and seizures during the neonatal period.

Benign Congenital HypotoniaBenign Congenital Hypotonia
 The termThe term benign congenital hypotoniabenign congenital hypotonia isis retrospectiveretrospective andand
refers to infants who are hypotonic at birth or shortlyrefers to infants who are hypotonic at birth or shortly
thereafter and later have normal tone.thereafter and later have normal tone.
 It encompasses manyIt encompasses many different pathological processesdifferent pathological processes
that affect the brain, the motor unit, or both.that affect the brain, the motor unit, or both.
 Most affected children have cerebral hypotonia.Most affected children have cerebral hypotonia.
 An increased incidence of mental retardation, learningAn increased incidence of mental retardation, learning
disabilities, and other sequalae of cerebral abnormalitydisabilities, and other sequalae of cerebral abnormality
are evident later in life, despite the recovery of normalare evident later in life, despite the recovery of normal
muscle tone.muscle tone.

 SPINAL CORDSPINAL CORD
 Spinal Cord Injury – Broken NeckSpinal Cord Injury – Broken Neck
 Spinal Muscular AtrophySpinal Muscular Atrophy
WERDNIG-HOFFMANNWERDNIG-HOFFMANN
 INFECTIONSINFECTIONS
Enterovirus - POLIOEnterovirus - POLIO
Transverse 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 exclusively duringInjuries to the cervical spinal cord occur almost exclusively during
vaginal delivery;vaginal delivery;
 approximately 75% are associated with breech presentation andapproximately 75% are associated with breech presentation and
 25% with cephalic presentation.25% with cephalic presentation.
 Because the injuries are always associated with a difficult andBecause the injuries are always associated with a difficult and
prolonged delivery, decreased consciousness is common, andprolonged delivery, decreased consciousness is common, and
hypotonia is falsely attributed to asphyxia or cerebral trauma.hypotonia is falsely attributed to asphyxia or cerebral trauma.
 Radiographs of the vertebraeRadiographs of the vertebrae show no abnormalities becauseshow no abnormalities because
bone displacement does not occur.bone displacement does not occur. MRI of the spineMRI of the spine showsshows
intraspinal edema and hemorrhageintraspinal edema and hemorrhage

Spinal Cord InjurySpinal Cord Injury
 Injuries in Cephalic PresentationInjuries in Cephalic Presentation
 Twisting of the neck during midforceps rotation causesTwisting of the neck during midforceps rotation causes
high cervical cord injuries in cephalic presentation.high cervical cord injuries in 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 absentThe risk is greatest when amniotic fluid is absent
because of delay from the time of membrane rupturebecause of delay from the time of membrane rupture
to the application of forceps.to the application of forceps.

Werdning-Hoffman SyndromeWerdning-Hoffman Syndrome
SMA type 1SMA type 1
 Anterior Horn cell (neuronal) degenerationAnterior Horn cell (neuronal) degeneration
 Progressive Weakness: Proximal > DistalProgressive Weakness: Proximal > Distal
 HypotoniaHypotonia
 AreflexiaAreflexia
 Atrophy / FasciculationsAtrophy / Fasciculations
 Intact Brain DevelopmentIntact Brain Development

SMASMA
 SMA is theSMA is the second most commonsecond most common autosomal recessive diseaseautosomal recessive disease inin
the US after cystic fibrosis.the US after cystic 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 birthsWorldwide 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 types I-IIIThe genetic defects associated with SMA types I-III
are localized on chromosomeare localized on chromosome 5q11.2-13.3.5q11.2-13.3.
 Mutations in theMutations in the SMNSMN gene result in a loss of functiongene result in a loss of function
of the SMN protein.of the SMN protein.
 Many classification systems based on inheritance,Many classification systems based on inheritance,
clinical, and genetic criteria.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), occur birth – 6
months (95% by 3 months)months (95% by 3 months)
 Severe, progressiveSevere, progressive muscle weakness and flaccid or reducedmuscle weakness and flaccid or reduced
muscle tone (hypotonia).muscle tone (hypotonia).
 Bulbar dysfunctionBulbar dysfunction includes poor suck ability, reducedincludes poor suck ability, reduced
swallowing, and respiratory failure.swallowing, and respiratory failure.
 Patients havePatients have no involvement of the extraocular musclesno involvement of the extraocular muscles, and, and
facial weakness is often minimal or absent.facial weakness is often minimal or absent.
 They haveThey have no evidence of cerebral involvementno evidence of cerebral involvement, and infants, and infants
appearappear alertalert..

 Impaired fetal movementsImpaired fetal movements are observed in 30% of casesare observed in 30% of cases
 60% of infants with SMA type I are floppy babies at birth.60% of infants with SMA type I are floppy babies at birth.
Prolonged cyanosisProlonged cyanosis may be notedmay be noted at delivery.at delivery.
 In some instances, the disease can cause fulminant weakness inIn some instances, the disease can cause fulminant weakness in
the first few days of life. Such severe weakness and early bulbarthe first few days of life. Such severe weakness and early bulbar
dysfunction -> mean survival of 5.9 months.dysfunction -> mean survival of 5.9 months.
 Affected childrenAffected children never sit or standnever sit or stand..
 InIn 95% of cases95% of cases, infants, infants diedie from complications of the diseasefrom complications of the disease
byby 18 months18 months..

 SMA type IISMA type II ((chronic infantile, sitterschronic infantile, sitters) usually begin) usually begin
betweenbetween 6 - 18 months6 - 18 months..
 Most common form of SMAMost common form of SMA
 Most common manifestation isMost common manifestation is developmental motordevelopmental motor
delaydelay. Infants with SMA type II often have difficulties. Infants with SMA type II often have difficulties
withwith sitting independentlysitting independently oror failure to stand by 1 year offailure to stand by 1 year of
age.age.
 These children may learn to sit but willThese children may learn to sit but will never be able tonever be able to
stand or walk.stand or walk.

 An unusual feature of the disease isAn unusual feature of the disease is a postural tremor affectinga postural tremor affecting
the fingersthe fingers. This is thought to be related to fasciculations in the. This is thought to be related to fasciculations in the
skeletal musclesskeletal muscles
 Pseudohypertrophy of the gastrocnemius muscle,Pseudohypertrophy of the gastrocnemius muscle,
musculoskeletal deformities, and respiratory failure can occur.musculoskeletal deformities, and respiratory failure can occur.
 The lifespan of patients with SMA type II variesThe lifespan of patients with SMA type II varies from 2 yearsfrom 2 years
to the third decade of life.to the third decade of life. Respiratory infections account forRespiratory infections account for
most deaths.most deaths.

 SMA type III (SMA type III (Kugelberg-Welander,Kugelberg-Welander, chronic juvenile, walkerschronic juvenile, walkers)) appearappear 1818
months – adultmonths – adult..
 Slowly progressive proximal weakness. MostSlowly progressive proximal weakness. Most can stand and walkcan stand and walk butbut
have trouble with motor skills, suchhave trouble with motor skills, 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 ofPatients may show evidence of pseudohypertrophy.pseudohypertrophy.
 The disease progresses slowly, and the overallThe disease progresses slowly, and the overall course is mildcourse is mild. Many. Many
patients havepatients have normal life expectancies.normal life expectancies.

SMASMA
 Congenital SMA with arthrogryposisCongenital SMA with arthrogryposis (persistent contracture of(persistent contracture of
joints with fixed abnormal posture of the limb) is a rarejoints with fixed abnormal posture of the limb) is a rare
disorder. Manifestations includedisorder. 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. anan 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 vaccinatewild type due to groups refusing to vaccinate

MASS LESIONS OF SPINAL CORDMASS LESIONS OF SPINAL CORD
 RareRare
 Intra-Abdominal TumorsIntra-Abdominal Tumors
 NeuroblastomaNeuroblastoma
 Early in InfancyEarly in Infancy

PERIPHERAL NERVESPERIPHERAL NERVES
 PolyneuropathyPolyneuropathy
 DysmylinationDysmylination
AUTOIMMUNEAUTOIMMUNE
CONGENITAL / GENETICCONGENITAL / GENETIC
 DysautonomiaDysautonomia

 MUSCLESMUSCLES
CONGENITAL MYOPATHIESCONGENITAL MYOPATHIES
DYSTROPHINOPATHIESDYSTROPHINOPATHIES
 DUCHENNE’SDUCHENNE’S
 BECKER’SBECKER’S
CENTRAL CORECENTRAL CORE
MYOTUBULARMYOTUBULAR
NEMALINE RODNEMALINE ROD
MYOTONIC DYSTOPHYMYOTONIC DYSTOPHY
 Infantile MyositisInfantile Myositis

NEUROMUSCULARNEUROMUSCULAR
JUNCTIONJUNCTION
 ToxinsToxins
BotulismBotulism
 MyastheniaMyasthenia
CongenitalCongenital
Neonatal 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 unclearSource of intestinal colonization usually unclear
 Occurs mainly between March & OctoberOccurs mainly between March & October

INFANTILE BOTULISMINFANTILE BOTULISM
 Prodrome: poor feeding & constipationProdrome: poor feeding & constipation
 Progressive bulbar & general weaknessProgressive bulbar & general weakness
 Loss of deep tendon reflexesLoss of deep tendon reflexes
 HypotoniaHypotonia
 DysphagiaDysphagia
 PtosisPtosis
 Sluggish dilated pupilsSluggish dilated pupils

INFANTILE MYASTHENIAINFANTILE MYASTHENIA
 FAMILIAL-INFANTILEFAMILIAL-INFANTILE
 Multiple Genetic Defects: AR + ADMultiple Genetic Defects: AR + AD
 Pre & Post Synaptic AChR abnormalitiesPre & Post Synaptic AChR abnormalities
 Respiratory or feeding problems at birthRespiratory or feeding problems at birth
 CONGENITALCONGENITAL
 Usually Bilateral Ptosis & OphthalmoplegiaUsually Bilateral Ptosis & Ophthalmoplegia
 Multiple Genetic Defects: ARMultiple Genetic Defects: AR
 NEONATAL-TRANSITORYNEONATAL-TRANSITORY
10 - 15% of myasthenic mothers10 - 15% of myasthenic mothers

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-INFANTILE
neostigmine or pyridostigmineneostigmine or pyridostigmine
CONGENITALCONGENITAL
Anticholinesterases for face, not for eye movementsAnticholinesterases for face, not for eye movements
3, 4-Diaminopyridine for some (increases ACh)3, 4-Diaminopyridine for some (increases ACh)
NEONATAL-TRANSITORYNEONATAL-TRANSITORY
Severe: exchange transfusionSevere: exchange transfusion
Mild - mod: 0.1% neostigmine methylsufate IM before feedsMild - mod: 0.1% neostigmine methylsufate IM before feeds
or nasogastric tube 10 x parenteral doseor nasogastric tube 10 x parenteral dose

JOINTS & CONNECTIVE TISSUEJOINTS & CONNECTIVE TISSUE
 Congenital Joint LaxityCongenital Joint Laxity
 AchondroplasiaAchondroplasia
 Marfan SyndromeMarfan Syndrome
 Ehlers-Danlos SyndromeEhlers-Danlos Syndrome
 Osteogenesis ImperfectaOsteogenesis Imperfecta

HYPOTONIA and WEAKNESSHYPOTONIA and WEAKNESS
in INFANTSin INFANTS
 SYSTEMICSYSTEMIC
 GENETIC DISORDERSGENETIC DISORDERS
 INFECTIONINFECTION
SEPSISSEPSIS
 INGESTIONSINGESTIONS
LIDOCAINELIDOCAINE

 GENETIC DISORDERSGENETIC DISORDERS
PRADER-WILLIPRADER-WILLI
ANGELMAN’S SYNDROMEANGELMAN’S SYNDROME
CRI DU CHATCRI DU CHAT
CEREBRO-HEPATO-RENALCEREBRO-HEPATO-RENAL
SYDROMESYDROME
WILLIAM’S SYNDROMEWILLIAM’S SYNDROME
TRISOMY 21TRISOMY 21
TRISOMY 13TRISOMY 13

 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

 METABOLICMETABOLIC
MITOCHONDRIALMITOCHONDRIAL
Congenital Lactic ACIDOSISCongenital Lactic ACIDOSIS
HyperammonemiaHyperammonemia
AMINOACIDURIASAMINOACIDURIAS
 NON-KETOTIC HYPERGLYCINEMIANON-KETOTIC HYPERGLYCINEMIA
Celiac DiseaseCeliac Disease
AnaemiaAnaemia
FAILURE TO THRIVE (FTT)FAILURE TO THRIVE (FTT)

DIAGNOSTIC STUDIESDIAGNOSTIC STUDIES
 HEAD CT, MRI: Brain edema, dysgenesis, otherHEAD CT, MRI: Brain edema, dysgenesis, other
 Xray, US, CT: Fracture, MassesXray, US, CT: Fracture, Masses
 BLOOD:BLOOD: Infection, Metabolic, GeneticInfection, 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, ChemistriesVenous Blood: Ammonia, Chemistries
CBC, Carnitine profile, Amino AcidsCBC, Carnitine profile, Amino Acids
 Urine: Organic & Amino AcidsUrine: Organic & Amino Acids
 CSF: Lactate, Amino AcidsCSF: 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, specificOnce 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 notmainly preventative to avoid contractures and wasting, but will not
increase muscle toneincrease muscle tone
 Genetics counseling.Genetics counseling.

PrognosisPrognosis
 Currently no known treatment or cure for mostCurrently no known treatment or cure for most
causes of hypotonia, and objective manifestationscauses of hypotonia, and objective manifestations
can be life long.can be life long.
 The outcome in any particular case of hypotoniaThe outcome in any particular case of hypotonia
depends largely on the nature of the underlyingdepends largely on the nature of the underlying
disease.disease.

PrognosisPrognosis
 In some cases, muscle tone improves over time, orIn some cases, muscle tone improves over time, or
the patient may learn mechanisms that enable himthe patient may learn mechanisms that enable him
to overcome the most disabling aspects of theto overcome the most disabling aspects of the
disorder.disorder.
 Hypotonia caused by cerebellar dysfunction orHypotonia 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 Hypotonia
Cerebral Hypotonia
1. “Benign” congenital hypotonia
2. Chromosome disorders
a. Prader-Willi syndrome
b. Trisomy
3. Chronic nonprogressive encephalopathy
a. Cerebral malformation
b. Perinatal distress
c. Postnatal disorders
4. Peroxisomal disorders
a. Cerebrohepatorenal syndrome (Zellweger)
b. Neonatal adrenoleukodystrophy
5. Other genetic defects
a. Familial dysautonomia
b. Oculocerebrorenal syndrome (Lowe)
6. Other metabolic defects
a. Acid maltase deficiency (see “Metabolic Myopathies”)
b. Infantile GM, gangliosidosis

Spinal Cord Disorders
1. Hypoxic-ischemia myelopathy
2. Injuries
Spinal Muscular Atrophies
1. Acute infantile
2. Chronic infantile
3. Incontinentia pigmenti
4. Infantile Spinal Cord Disorders
5. Neurogenic arthrogryposis
Polyneuropathies
1. Congential hypomyelinating neuropathy
2. Giant axonal neuropathy
3. Hereditary motor-sensory neuropathies

Disorders of Neuromuscular Transmission
1. Infantile botulism
2. Familial infantile myasthenia
3. Transitory myasthenia gravis
Fiber-Type Disproportion Myopathies
1. Central core disease
2. Congential fiber-type disproportion myopathy
3. Myotublar (centronuclear) myopathy
a. Acute
b. Chronic
4. Nemaline (rod) myopathy

Infantile Myositis
1. Acid maltase deficiency
2. Cytochrome-c-oxidase deficiency
3. Carnitine deficiency
4. Phosphofructokinase deficiency
5. Phosphorylase deficiency
Metabolic Myopathies
Muscular Dystrophies
1. Congential muscular dystrophy
a. Cerebroocular dystrophy
b. Fukuyama type
c. Leukodystrophy
2. Congenital myotonic dystrophy

BIBLIOGRAPHYBIBLIOGRAPHY
 Fenichel GM,Fenichel GM, Clinical Pediatric Neurology: AClinical Pediatric Neurology: A
Signs and Symptoms ApproachSigns and Symptoms Approach, 2nd ed.WB, 2nd ed.WB
SaundersSaunders
 Adams RD, Victor M,Adams RD, Victor M, Principles of NeurologyPrinciples of Neurology,,
4th ed. McGraw-Hill4th ed. McGraw-Hill
 Menkes JH,Menkes JH, Textbook of Child NeurologyTextbook of Child Neurology, 5th, 5th
ed.Williams and Wilkinsed.Williams and Wilkins
 Oski FA,Oski FA, Principles and Practice of PediatricsPrinciples and Practice of Pediatrics,,
LippincottLippincott

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