Floppy Baby Flashcards
Causes of Floppy Baby
Causes of Floppy Baby N eurological causes:
A -Central causes
* Cerebral lipidosis (Niemann pick syndrome). *Cerebral palsy( atonic type). *Chromosomal aberration (Down syndrome). *Prader Willi syndrome. *Kernicterus. B- spinal cord and AHC Causes:
1- Werding-Hoffman disease (SMA).
2-poliomyelitis.
C - Peripheral nerves Causes: 1 -Guillaine-Barre syndrome 2-Familial Dysautonomia D-Neuromuscular causes:
1- myasthenia gravis E -Muscular causes: Duchenne muscular dystrophy and myotonia.
2-Endocrinal causes Hypothyroidism (cretinism). 3-Skeletal causes Rickets. Osteogenesis imperficta.
How to diagnose floppiness in early infancy
By the clinical features In supine position → Frog leg position,(limbs are abducted and slightly flexed), this denotes hypotonia of the limbs.
On ventral suspension → Inverted U (curved back + head drop),this denotes hypotonia of the trunk.
Gentle traction from supine position → head lags backward, this denotes hypotonia of the neck muscles
Investigations
- CBC, electrolytes, and inflammatory markers are important to rule out systemic disorders causing hypotonia including sepsis.
- MRI spinal cord: detect Hemangioma or tuft of hair in midline.
- Motor nerve conduction studies in Peripheral neuropathy.
- Molecular DNA testing for specific demyelinating disorder.
- Serum antibodies to acethylcholine receptors in Myasthenia gravis.
- Stool culture to isolate the organism in Infantile botulism.
- Muscle biopsy in Congenital myotonic dystrophy.
- Chromosomal study for Down syndrome.
Test for LMNL
1- Electromyogram (EMG) 2- Muscle biopsy: Can distinguish muscular dystrophies from
other muscle diseases. 3- 4- 5- 6- creatine kinase (CK). If there is no traumatic injury, high blood levels of CK suggest a muscle disease. 7-
specific gene mutation
Nerve conduction velocity
Nerve biopsy Lumber puncture and CSF analysis. Enzyme assay :Damaged muscles release enzymes, such as
We rding Hoffman disease (Infantile SMA type 1)
It is an autosomal recessive neuromuscular disease affecting the anterior horn cells leading to spinal muscle atrophy. - There is reduced fetal movements during the last months of gestation.
Symptoms:
a) Severe weakness before 6 months of age. b) Difficult suckling and swallowing . c) Impaired breathing. d) Floppiness of limbs and trunk. e) The child never sit or stand ,usually die within 2 years.
Diagnosis by genetic testing and electromyography
Tr e a t m e n t : physical therapy , mechanical devices to help eating.
Myathenia Gravis (MG)
Types
Types Juvenile MG: Autoimmune disorder mainly affecting female adolescents. It begins gradually. There is difficult chewing and swallowing with dramatic droppping of the eye lids.
Tr a n s i e n t n e o n a t a l M G : The antibodies from a mother with MG cross the placenta to the fetus. The baby is weak with poor suckling and may have respiratory difficulty. The symptoms fades away within few weeks when the maternal antibodies disappears.
Congenital MG: rare non immune autosomal recessive disease. Begin in the first year and lifelong. It shows generalized weakness in arms and legs. Delays in all motor skills and difficulty feeding.
Diagnosis of MG:
Tr e a t m e n t
Diagnosis of MG: 1-TENSILONE TEST: in MG an immediate but brief increase in muscle tone is noticed after tensilone injection, It prevents acetylcholinesterase from breaking down acetylcholine allowing it to bind to its receptors. 2-Electromyogram/ nerve conduction study. 3- muscle biopsy to confirm the diagnosis.
Tr e a t m e n t The aim is to prevent respiratory problems and provide adequate nutrition
1-Cholinesterase inhibitors: as Pyridostigmine bromide 2-High dose IV immune globuline. 3-Plasmapheresis: to remove abnormal Ab and replace it with normal ones from donated blood.
Muscular dystrophy
Duchenne muscular dystrophy (DMD)
is an X linked recessive inheritance due to gene mutation leads to absence of dystrophin which keep the muscle intact. -Onset : early childhood (between 3-5 years). -First muscles to be affected are the pelvic muscles, thigh and shoulders.
In toddlers: pseudo- hypertrophy of the calf muscles is noticed. Preschool child : trouble climbing stairs and difficulty getting up from the floor. In school age: they have the waddling gait . - Transition to wheel chair begin from 7-12 years. - Cardiomyopathy and respiratory muscles affection is a serious complication. - Simple cold can quickly progress to pneumonia.
How do you assess the Gower sign?
The Gower sign is a classic physical examination finding in muscle dystrophy and results from weakness in the child’s proximal hip muscles.
To get up from a sitting or supine position, the child must first become prone on the elbows and knees. Next, the knees and elbows are extended to raise the body.
Diagnosis of DMD
Tr e a t m e n t :
Diagnosis of DMD
*Enzyme tests : the damaged muscles release
enzymes Creatine kinase. *Electromyography: shows change of pattern. *Genetic testing : from Blood sample. *Muscle biopsy. Tr e a t m e n t : Glucocorticoids (prednisone and deflazacort). Assistive devices: For stretching exercises and mobility aids (wheelchair).
Guillain Barre syndrome
Signs and Symptoms:
Signs and Symptoms:
GB is a serious condition needs immediate hospitalization as it can worsen rapidly.
- Obvious weakness starts within 2-4 weeks after symptoms begin. - Pins and needle sensations in the fingers, toes, ankle and wrist. - The weakness in the leg spreads to the upper body. - Inability to walk or climb the stairs. - Difficulty with eye and facial movements. - Difficulty with bladder control and bowel function. - Difficulty breathing.
Ty p e s o f G B S y n d r o m e :
Acute inflammatory demyelinating polyradiculoneuropathy:
which damage the myelin. Its main sign is muscle weakness that
starts in the lower limb and spreads upwards.
2-Miller Fisher syndrome: Paralysis starts in the eye as it affects
the cranial nerves. The patient has unsteady gait.
Complications:
* Breathing difficulty (fatal). *Residual numbness. *Cardiac arrhythmias. *50% of patients suffer sever nerve pain. *3% of patients experience a relapse.
Diagnosis of GBS
Diagnosis:
* Lumber puncture: high protein level in CSF. *Electromyography. *Nerve conduction tests.
Tr e a t m e n t : The aim is to lessen the severity of the attack.
1. Plasmapheresis. 2. IV immunoglobulin. 3. Relieve pain and prevent blood clot due to immobility.
Prader Willi Syndrome
is caused by a genetic defect
on chromosome number 15.
In Infants
- Hypotonia is a primary sign
during infancy.
- Distinct facial feature:
Almond-shaped eyes.
Narrowing of the head at the temples.
Turned-down mouth and a thin upper lip.
- Poor sucking reflex makes feeding: - Difficult and can result in failure to thrive. - The infant has poor responsiveness and weak cry. - Underdeveloped genitals.
In childhood: - insatiable appetite which leads to hyperphagia and obesity.
- Cognitive impairment: mild to moderate intellectual
disability.
- Delayed motor milestones and language development.
- Behavioral abnormality.
Diagnosis: Is based on the signs and symptoms but genetic testing confirm the diagnosis. Tr e a t m e n t :
Ø Good nutrition of infants as they have difficult
feeding due to hypotonia. ØGrowth hormone to improve muscle tone ØSex hormone replacement at the age of
puberty. ØWeight control ØMental health care
Poliomyelitis (infantile paralysis)
Is an infectious disease, affect the age from 2 months
till 2 years.
§ Caused by polio virus due to direct contact with
pharyngeal secretions or the faeces. §After causing Viraemia ,the virus localizes in the
nerve cells. §Its localization in spinal cord is named spinal polio. § Its localization in the medulla ,pons and midbrain is
named bulbar polio.
Symptoms -Abortive Polio: Upper Resp. tract infection in the form of catarrh, malaise. Then either the infant shows recovery or progression to paralytic stage. - asymmetric flaccid paralysis of sudden onset , affecting mainly the large muscle groups with no sensory deficit. Diagnosis - isolation of the virus from the infected stool.
- Antibodies detection after 2 weeks of infection.
Tr e a t m e n t -In abortive polio: isolation and complete bed rest. -No injection whatsoever to minimize the incidence of paralysis which is increased by muscle trauma.
Infantile botulism
Clostridium botulinum is a gram-positive anaerobic bacillus
that is spore-forming. - Infantile botulism is a rare but serious gastrointestinal
condition caused by ingestion of contaminated milk or food
with the spores. - It multiplies in a infant’s intestines, producing a dangerous
neurotoxin. - This toxin enters the presynaptic nerve terminals and
prevents the release of acetylcholine by blocking calcium
channels leading to descending paralysis. - The condition can occur up to age 12 months.
Infantile botulism
Symptoms
- The classic presentation is characterized by a “floppy baby.”
- Constipation, Poor feeding, lethargy and weak cry. - Ptosis in the eyes.
- Excessive drooling due to weak suck reflex. - Shallow breathing due to respiratory suppression. treatment - Assess the airway, breathing, and circulation (50% of infantile botulism cases will require intubation). - Immune Globulin Intravenous (Human)—to work against the toxin . Prevention: - avoiding exposure to contaminated soil or dust. - Avoid giving raw honey to babies under one year of age. - Av o i d H o m e -canned food.
