Floppy baby

Floppy babyFloppy baby

Dr.tosif ahmadDr.tosif ahmad

TMO-paedsTMO-paeds

Case presentationCase presentation

Adnan s/o Akbar zaman, 5 Adnan s/o Akbar zaman, 5 months old, known case of months old, known case of SMA, presented with complaints SMA, presented with complaints of ;of ;

1- cough 3 days.1- cough 3 days.

2- fever 3 days.2- fever 3 days.


According to the mother of the According to the mother of the baby, he developed high grade baby, he developed high grade fever and cough 3 days back. fever and cough 3 days back. Both were more sever at night. Both were more sever at night. The cough is productive and the The cough is productive and the fever is continous. The baby is fever is continous. The baby is unable to move lower limbs from unable to move lower limbs from birth. There is also reduction in birth. There is also reduction in the movements of uper limbs.the movements of uper limbs.


The baby cant support the head The baby cant support the head and they are getting treatment and they are getting treatment for this condition of the baby for this condition of the baby from CMH Islamabad where he from CMH Islamabad where he has been diagnosed as a case has been diagnosed as a case of SMA.of SMA.


There is history of repeated There is history of repeated hospitalization for LRTI.hospitalization for LRTI.

1 brother and 2 sisters of the 1 brother and 2 sisters of the baby, all of them are normal. No baby, all of them are normal. No family history of congenital family history of congenital abnormalities or infectious abnormalities or infectious diseases.diseases.

Father of the baby is driver.Father of the baby is driver.


Regular antenatal checkup, with Regular antenatal checkup, with no history of medication during no history of medication during pregnancy by the mother. pregnancy by the mother. According to the mother, the According to the mother, the movement of this baby was very movement of this baby was very less when she compared it with less when she compared it with the previous pregnancies.the previous pregnancies.


The baby was delivered in home The baby was delivered in home by a LHV with immediate cry by a LHV with immediate cry after birth.after birth.

Vaccination done according to Vaccination done according to EPI shedule.EPI shedule.

Developmental delay, the baby Developmental delay, the baby is still not able to support his is still not able to support his head, social smile at 1.5 head, social smile at 1.5 months. months.


The baby is breast fed.The baby is breast fed.


On examination.On examination.

1.1. Ill lookingIll looking

2.2. PalePale

3.3. TachypnoiecTachypnoiec

4.4. Lying in supine position with iv Lying in supine position with iv line in the head.line in the head.


Crepitations in both sides of Crepitations in both sides of chest.chest.

Allert, conscious, no spontanous Allert, conscious, no spontanous movements of the limbs, Head movements of the limbs, Head lag, on ventral suspension all lag, on ventral suspension all the limbs hang down. Reflexes the limbs hang down. Reflexes absent. absent.

Rest of the examination normal Rest of the examination normal

Investigations Investigations

Nerve conduction studiesNerve conduction studies X-ray chest.X-ray chest.

Diagnosis Diagnosis

SMA/LRTISMA/LRTI

Hypotonia Hypotonia

Hypotonia in infancy may be Hypotonia in infancy may be due to a paralytic or a non due to a paralytic or a non paralytic disorder.paralytic disorder.

Paralytic conditions cause Paralytic conditions cause hypotonia with weakness and hypotonia with weakness and may affect the anterior horn may affect the anterior horn cells,nerve fibers neuro cells,nerve fibers neuro muscular junctions or muscles.muscular junctions or muscles.

HypotoniaHypotonia

Non paralytic condions cause Non paralytic condions cause hypotonia (floppiness) without hypotonia (floppiness) without significant weakness.significant weakness.

The commenest cause of floppy The commenest cause of floppy baby is perinatal asphyxia.baby is perinatal asphyxia.

Most common paralytic cause of Most common paralytic cause of floppy infant is SMA.floppy infant is SMA.

CausesCauses

Paralytic causes;Paralytic causes;

1.1. Spinal cord disorders such as Spinal cord disorders such as trauma, tumors etctrauma, tumors etc

2.2. Anterior horn cell disease such Anterior horn cell disease such as SMA & poliomyelitisas SMA & poliomyelitis

3.3. Neuromuscular disorders such Neuromuscular disorders such as neonatal or congenital as neonatal or congenital myasthenia gravis.myasthenia gravis.

CausesCauses

4- Peripheral neuropathy.4- Peripheral neuropathy.

5- Congenital myopathy ; it may 5- Congenital myopathy ; it may be structural (muscular be structural (muscular dystrophy) or metabolic dystrophy) or metabolic (glycogen & lipid storage (glycogen & lipid storage disorders)disorders)

CausesCauses

Non paralytic causes;Non paralytic causes;

1- Disorders affecting the CNS 1- Disorders affecting the CNS (birth asphyxia, hypotonic CP, (birth asphyxia, hypotonic CP, Downs syndrome)Downs syndrome)

2- Connective tissue disorders 2- Connective tissue disorders (Ehlers Danlos syndrome)(Ehlers Danlos syndrome)

3- Prader-willi syndrome.3- Prader-willi syndrome.

4- Benign congenital hypotonia4- Benign congenital hypotonia

CausesCauses

5- Metabolic & endocrine 5- Metabolic & endocrine disorders (hypercalcemia , disorders (hypercalcemia , hypothyroidism)hypothyroidism)

Clinical featuresClinical features

Sever hypotoniaSever hypotonia On ventral suspension, the four On ventral suspension, the four

limbs hang down and the infant limbs hang down and the infant is unable to hold head up.is unable to hold head up.

Head lagHead lag Frog like positionFrog like position

Investigations Investigations

Thyroid function testsThyroid function tests Serum calciumSerum calcium KaryotypingKaryotyping Investigations for inborn errors Investigations for inborn errors

of metabolism.of metabolism. CT or MRICT or MRI NCSNCS Muscle biopsy.Muscle biopsy.

Treatment Treatment

Treatment is dirrected to the Treatment is dirrected to the cause of hypotoniacause of hypotonia

Spinal muscular atrophySpinal muscular atrophy

SMAs are degenerative SMAs are degenerative diseases of motor neurons that diseases of motor neurons that begin in fetal life and continue to begin in fetal life and continue to be progressive in infancy and be progressive in infancy and childhood.childhood.


SMA is classified in to the SMA is classified in to the following types;following types;

1.1. SMA type 1 or werdnig SMA type 1 or werdnig hoffmann disease.hoffmann disease.

2.2. SMA type 2 a late infantile and SMA type 2 a late infantile and more slowly progressive form.more slowly progressive form.

3.3. SMA type 3 or kugelberg SMA type 3 or kugelberg welander disease.welander disease.


4 A sever fetal form that is usually 4 A sever fetal form that is usually fatal in the perinatal period has fatal in the perinatal period has been described as SMA type 0been described as SMA type 0


The cause of SMA is a The cause of SMA is a pathological continuation of a pathological continuation of a process of programmed cell process of programmed cell death or apoptosis.death or apoptosis.

Defect in SMN gene causes Defect in SMN gene causes SMA.SMA.

Type 1Type 1

It is severe infantile form.It is severe infantile form. Rapidly progressive with the Rapidly progressive with the

majority dying of respiratory majority dying of respiratory failure with in 18 months.failure with in 18 months.

Presents in 1Presents in 1stst few weeks. few weeks. Fasciculations are seen Fasciculations are seen

particularly in tongue.particularly in tongue. Decreased fetal movements. Decreased fetal movements.

Type 1Type 1

Facial and bulbar muscles are Facial and bulbar muscles are unaffected, so the infant has an unaffected, so the infant has an alert look and can swallow alert look and can swallow normally.normally.

Type 2Type 2

More chronic condition.More chronic condition. Presents from 6 months to 18 Presents from 6 months to 18

months.months. Causes severe muscle wasting , Causes severe muscle wasting ,

contractures and scoliosis.contractures and scoliosis. Majority die by the age of 10 Majority die by the age of 10

years,years,

Type 3Type 3

Presents above 18 months.Presents above 18 months. Children develop normally but Children develop normally but

then they develop limb girdle then they develop limb girdle weakness and gradual loss of weakness and gradual loss of ability to walk.ability to walk.

Progression is episodic and Progression is episodic and usually there is survival into usually there is survival into adult life. adult life.

Treatment Treatment

No medical treatment is No medical treatment is available to delay the available to delay the progression of the disease.progression of the disease.

Orthopedic care.Orthopedic care. Mild physiotherapy.Mild physiotherapy.

Thank youThank you

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Floppy baby