2. NEUROANATOMICAL LOCALISATION
UMN ( CENTRAL)
- CNS
LMN (PERIPHERAL)
-Anterior horn cell
-Nerve
-NMJ
-Muscle
Specific anatomical site important for diagnosis , treatment and prognostication.
3. Key points: central verse peripheral
CENTRAL HYPOTONIA PERIPHERAL HYPOTONIA
Microcephaly Normal head circumference
Global development delay Selective motor delay
Axial hypotonia, appendicular tone
normal
Both affected
Antigravity movements preserved No antigravity movements
Brisk DTR Areflexia/hyporeflexia
Plantar extensors Plantar flexors
Seizure, facial dysmorphism Tongue fasciculations
4. SITE OF LESIONS
variables Central injury Anterior horn
cell
Peripheral
nerve
NMJ Muscle
Strength N /
DTRs N / ABSENT ABSENT / N / ABSENT /
BABINSKI +/- - - - -
Infantile reflex PERSISTENT Absent absent absent absent
MUSCLE
FASICULATION
Absent PROMINENT absent absent absent
Muscle mass Disuse atrophy PROXIMAL
ATROPHY
DISTAL
ATROPHY
N or PROXIMAL
Tone Axial
Appendicular N
5.
6.
7. • NAME: Master X,
• AGE: 3 months 1 week old
• SEX: MCH
• 4th born of 3rd consanguineous marriage was bought by mother whose
reliability is good, coming from thoothukudi with
• CHIEF COMPLAINTS:
c/o paucity of movements of all 4 limbs with generalized
floppiness since 1 month of age
c/o cough × 2 days
c/o fever × 2 days
c/o breathing difficulty × 1 days
8. Histoy of presenting illness
Mother has noticed the baby had a generalized decrease in
spontaneous movement of both upper and lower limbs last 2 months,
since 1 month of age. Baby was not able to move her arms, and could
not lift her elbows up from the bed or reach upto midline. Baby is able
to move her forearm and hands sidewards and had weak grasp.
child has no spontaneous kicking movements, but able to move her
feet and toes, there is minimal movement at the level of knee, but no
movements at the level of hip joint.
Mother has noticed generalized floppiness, difficulty in holding the
baby, slipping of baby while held at arms
9. h/o weak cry present since birth,
h/o frequent cough during feeds for 2 days
h/o increased difficulty in breathing, in the form rapid breathing and
chest retraction particularly after feed
h/o not gaining weight since birth
No h/o persistent fisting
No h/o difficulty in wearing diapers
No h/o seizures since birth
No h/o incessant crying
No h/o increased head size noted by mother
10. • No h/o drooping eyelids
• No h/o abnormal eye movement
• No h/o facial asymmetry while crying
• Able to watch mother face with intend while feeding and when being spoken too
• Recognizes mother voice
• Looks to loud sound to minimal side movements
• h/o recent onset feeding difficulty with frequent aspiration for past 2 days
• Baby reacts to changes in temperature
• No h/o lethargy
• No h/o forehead sweating
• No h/o bluish discoloration of the body
• No h/o fever , vomiting , loose stool, oily stool abdominal distention
• No h/o abnormal body odour , abnormal odour of urine
• h/o similar episode 1 month back
11. Antenatal history
• 1st pregnancy
Uneventful antenatal period , FTNVD , girl baby , 2.7 kg, 7 yr and healthy
• 2nd pregnancy
Spacing 3 yrs, uneventful antenatal period FTNVD boy baby of 2.7kg , had similar floppiness
noted in 2nd child with no head control attained even at 6 months of life, and said to be died of with
recurrent respiratory illness and due to respiratory failure at 6 months of life
• 3rd pregnancy
Spacing 2 yrs, uneventfull anetenatal period FTNVD boy baby of 2.6kg, had found to have
similar floppiness with no head control attained at 6 months of life, this baby was also said to be
died at 6 months of age with same recurrent respiratory illness and due to respiratory failure.
• 4th pregnancy
Spacing 3 yrs, current child, mothers age on conception 28yrs, fathers age was 35 yrs at
conception , conceived naturally.
12. First trimester
• confirmed by urine pregnancy test at 45 days amenorrhea
• registered and immunized at government hospital
• periconceptional folic acid not taken
• no h/o excessive vomiting
• no h/o teratogenic drug intake/ radiation exposure
• no h/o exanthematous fever/ post auricular lymphadenopathy
• Dating scan done
13. Second trimester
• Immunised with 2 dose of TT
• Took iron and folic acid tablets regularly
• No h/o maternal medical diseases complicating pregnancy like gestational
diabetes/ gestational hypertension/ hypothyroidism quickening felt at 5th month
• No h/o reduced fetal movements
• Anomaly scan done at 20 weeks, was said to be normal
• No H/o polyhydramnios or oligohydramnios documented
14. Third trimester
• Mother diagnosed with anemia complicating pregnancy,
• Iron sucrose injections 4 doses given
• No h/o abnormal bleeding per vaginum/foul-smelling discharge
• No h/o exanthematous fevers
• No h/o fever with burning micturition
• No h/o draining per vaginum
• No H/o decreased fetal movements
• No h/o any other drug intake/drug administration
15. Natal history
• Mother went into spontaneous labor 2 days prior to EDD
• No abnormal presentation / FTNVD /birth wt of 2.3kg
• Baby cried well immediately after birth.
• No h/o meconium-stained liquor
16. Neonatal history
• Baby breast fed within 1hr of birth
• Urine and meconium passed within 24 hrs
• No NICU admission.
• No h/o of feeding difficulty
• No h/o of breathing difficulties,
• No h/o apneic spells or cyanosis,
• h/o neonatal seizures or tonic posturing
• no h/o neonatal jaundice
17. Immunization history
• Immunized with
• Birth dose vaccines [BCG, OPV, Hep B]
• 45th day vaccine [DPT, OPV, IPV, HEP B, ROTA,
H.INFLUENZA,PNEUMOCOCAL]
• 75th day vaccine had not given
• no h/o adverse effect following immunization
18. Developmental history
• Gross motor - head control not attained
• Fine motor - spontaneous opening of hands present
• Social - social smile attained at 2 months
• Language - cooing present
• Visual - able to follow bright coloured toys and follows faces.
20. •Contact history:
No h/o contact with tuberculosis/ COVID cases
•Socioeconomic history:
- Total family members 4
- pucca house with 3 rooms & separate toilet facility available
- Potable water available inside the house
- Father is the head of family,
- educated up to standard 10, fishermen
- Mother had educated upto standard 12, home-keeper.
- Monthly income 11,000/-- grade iii (lower middle class according to modified
kuppuswamy scale)
21. Family history
• 3rd degree consanguineous parents
• H/o developmental delay and similar illness was present in 2 siblings, both died of
recurrent respiratory illness due to respiratory failure.
• Father has difficulty in walking from 5 yrs of age after polio attack ?,no h/o ptosis
in family members.
22. GENERAL EXAMINATION
• Baby awake and alert, interested in surroundings
• Responds to mother
• Noticed to have feeble low volume cry.
• Baby looks ill-nourished with wasting and loose folds of skin seen over gluteal
region and groins
• Attitude: shoulders externally rotated, arms abducted, with elbows flexed and
hands kept by the side of the head,hip - partially externally rotated with minimal
flexion of knees.
23. • Generalized paucity of movements especially noted at hips and shoulders.
• No spontaneous kicking or movements of upper limbs at the shoulders when
awake.
• Lifts knees weakly and able to wiggle toes and move her fingers.
• No pallor, not icteric, no generalized lymphadenopathy, no edema
24. VITALS
• Heart rate - 116/ min
• Pulses were regular in rhythm/ normal volume/ no specific character/ felt equally
in all peripheries
• Respiratory rate - 60/ min, tachypneic, abdomino-thoracic type of breathing, chest
retractions present. Sp02 - 98% with 02 support(on HFNC support
• Temperature - 98.4 F
• Blood pressure – 96/50 in Rt upper limb
25. ANTHROPOMETRY
PARAMETERS OBSERVED EXPECTED INTERPRETATION INFERENCE
WEIGHT 4.7Kg 6 kg <-3 z score Severe
underweight
LENGTH 62 cm 60 2 to 3 z score Normal
HEAD
CIRCUMFER
ENCE
41 cm 2 to 3 z score normal
WEIGHT FOR
LENGTH
-3 z score Severe wasting
CHEST CIRCUMFERENCE – 32 CM
INTERPRETATION : Failure to thrive
26. HEAD TO FOOT EXAMINATION
• Head
- Normal shape and size, no micro/ macro/ plagiocephaly
- No low set ears, low hairline
• Face
- No flat facial profile/ coarse facies
- No pointed chin/ myopathic facies
- No forehead bossing
27. • Eyes
- Normal
- No hypo/hypertelorism
- No upward/ downward slant in eyes
- No prominent epicanthal folds
- No cataracts
- Not almond shaped, no brush field spots in iris
- No drooping of eyelids
• Ears
- normal in size
- no preauricular tags
- no preauricular sinus
28. • Oral cavity
- Lips and philtrum normal/no tenting of upper lip
- No high arched palate /No cleft lip/cleft palate
- Tongue fasciculations present
- No protrusion of tongue or persistent tongue thrusting
29. • Limbs
- Normal
-No joint contractures
-No syn/polydactyly/clinodactyly
- Palmar and plantar creases normal
• Skin
-No neurocutaneous markers
-No hyper/hypopigmentation
-No callosities noted/no obvious signs of vitamin deficiencies noted
• External genitalia normal
30. SYSTEM EXAMINATION - CNS
• Attitude - baby in 'pithed frog' position
• Higher motor functions baby alert, interested in surroundings, no tonic posturing,
no fisting, no vacant stares.
• Cranial nerve examination
1st – not tested,
2nd - tested-able to fix and follow bright objects, follows mother's face
3rd, 4th, 6th – direct light reflex intact in both eyes
- EOM full in both eyes
- both eyes pupil size 2mm, PERL
- fundus normal
- no nystagmus
31. • 5th cranial nerve- rooting reflex intact
• 7th cranial nerve- no asymmetry of face while crying
• 8th nerve- able to looks towards loud noises with minimal sideward movement of
neck
• 9th and 10th nerves: pooling of secretions in the oral cavity with drooling of
saliva/milk seen,
uvula in midline
gag reflex- absent
12 cranial nerve: Tongue fasciculations present +
32. MOTOR EXAMINATION
BULK
Baby appears visibly wasted + , On palpation muscles are soft and flabby, bulk is
symmetrical.
TONE : floppiness of all four limbs+, tone symmetrically decreased in all 4 limbs
RT LT
ARM 9 9
FOREARM 4.5 4.5
MID THIGH 12 12
MID LEG 6 6
33. 180' FLIP TEST
PULL TO SIT
• Complete head lag present. In sitting position – complete curving of
the back with falling of head to either front or back if unsupported
34. VERTICAL SUSPENSION
• Baby slipping through the hands. No spontaneous kicking
movements, no scissoring of lower limbs
35. CONT..
VENTRAL SUSPENSION –
• 'Rag doll' posture with complete head lag and no attempts to lift the head up.
• Complete curvature of the trunk.
36. PRONE POSITION-
• No spontaneous attempts to lift the head,
• No pelvis lift or spontaneous flexing of the knees
• IMPRESSION: SEVERE HYPOTONIA
40. NEONATAL REFLEXES
• Moro reflex - not elicitable
• Rooting reflex intact
• Palmar grasp - present, but weak
• Stepping reflex - not elicitable
• Placing reflex- minimal flexion at knees
• Asymmetric tonic neck reflex - could not be elicited
41. SENSORY SYSTEM
• Able to perceive touch and pain,
• Reacts to cold temperature by crying.
SPINE
• Normal, no sacral dimple/ tuft of hair / swelling in the sacral region
CEREBELLAR SIGNS
• No tremors, no nystagmus
CRANIUM
• head size normal, anterior fontanelle open, 3 * 3 cm, posterior fontanelle closed,
• no sutural overriding/abnormal separation
Others
• No joint contractures/callosities
42. CARDIOVASCULAR SYSTEM
• Chest wall bell-shaped on inspection,
• No visible scars,
• Apical impulse at left 5th ICS ,just medial to the midclavicular line
• No evidence of increased precordial activity.
• S1 s2 heard normally in all areas.
• No murmur, no gallop rhythm, no other added sounds.
43. RESPIRATORY SYSTEM
• Bell shaped chest with splaying of lower ribs
• Baby on respiratory support (HHHFNC)
• Increased work of breathing with tachypnea and mild intercostal
retractions
• Paradoxical movement of chest wall going in and abdomen moving
out during inspiration.
• On auscultation - b/l normal vesicular breath sounds heard equally in
all lung fields‚ b/l crepitations present.
44. ABDOMEN
• Protruded abdomen-umbilicus in midline with no scars or sinuses
• Hernial orifices free
• On palpation, abdomen was soft in consistency, liver was just palpable below rt
costal margin, no organomegaly.
• Bladder not palpable
45. EXAMINATION OF THE MOTHER
• No ptosis was apparent in either of the parents or siblings
• No grip myotonia/ percussion myotonia
• No myopathic facies
46. SUMMARY
• 3 months 1 week old , 4th born male baby to 3rd degree consanguinous parents,
with no significant antenatal history (decreased fetal movements/polyhydramnios),
with an uneventful natal history, with a smooth transition into postnatal period,
• With h/o generalized and symmetric paucity of movements of limbs and neck,
generalized floppiness and a weak low volume cry and prolonged sucking, all of
which were noticed over the last 2 months. With worsening of feeding difficulties
and respiratory distress.
• With Failure to thrive With social, language and visual milestones appropriate for
age. With significant family history.
47. • Examination revealed FTT (W/H < -3 SD) with no facial dysmorphism, with an
intact sensorium, with severe hypotonia and symmetric weakness of
limbs(proximal> distal), with intercostal weakness, and preserved diaphragmatic
tone along with areflexia and significant tongue fasciculations
• Other system examination revealed a stable cardiac status with an abnormal bell
shaped chest wall with respiratory distress and paradoxical breathing movements,
requiring oxygen support.
48. DIAGNOSIS
• FLOPPY INFANT WITH GENERALISED HYPOTONIA (PERIPHERAL) AND
PREDOMINANT PROXIMAL > DISTAL WEAKNESS & FASCICULATIONS
• DISORDER OF ANTERIOR HORN CELL ~SPINAL MUSCULAR ATROPHY
(EARLY INFANTILE TYPE)
• With the complications of failure to thrive and aspiration pneumonitis.
52. • Genetic study :
-homogenous deletion of exon 7 and 8 in SMN 1 gene
with zero number of copies, heterogenous duplication detected in
SMN2 gene with 2 copy numbers.
53. Spinal muscular atrophy [ SMA]
• SMA is an autosomal recessive disorder involving the degeneration of the
anterior horn cells.
• Infants with SMA are hypotonic and weak, at birth or soon after. The
combination results in decrease of spontaneous movements and an
abnormal posture typical for a floppy infant.
• The presence of tongue fasciculation and absent deep tendon reflexes, mild
contractures and decreased fetal movements before birth complete the
clinical picture.
• The weakness usually involves the bulbar and respiratory muscles, causing
significant respiratory distress and infants develop pneumonia and
respiratory failure.
54. • The diagnosis is often clinical, while laboratory investigations are
helpful in confirming the diagnosis.
• EMG usually shows spontaneous fibrillation potentials at rest.
• The muscle biopsy shows grouped neurogenic atrophy and evidence
of presence of hypertrophic type I myofibres (rennervation), though
this test has been largely replaced by the DNA based molecular
diagnostic test
55. • There are two nearly identical genes located on chromosome 5q13, termed
SMNT (SMN-telomeric) and SMNC, at the telomeric and centromeric ends,
respectively.
• SMA is caused by a gene deletion affecting the telomeric SMN gene
(SMN1 or SMNT ). Individuals with milder disease phenotype exhibit a
higher number of copies of the SMNC gene.
• A rapid DNA diagnostic test is now available to test for the deletions of
exon 7 affecting SMN gene.
• Ninety-five percent of affected patients are homozygous for this deletion,
about 5% are heterozygotes for the exon 7 mutation and ,1% carry a subtle
intragenic mutation in either a heterozygous or a homozygous state
• The molecular defects in this disorder may be associated with secondary
defects in fatty acid oxidation
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