Floppy Infant Causes & Symptoms PDF

Flaccid Paralysis Department of pediatrics LOs: Define flaccid paralysis. Classify different types of flaccid paralysis. Discuss spinal causes for flaccid paralysis Discuss neuropathies. Discuss neuromuscular diseases. Discuss muscular causes of flaccid paralysis. Understand how to...

Flaccid Paralysis Department of pediatrics LOs: Define flaccid paralysis. Classify different types of flaccid paralysis. Discuss spinal causes for flaccid paralysis Discuss neuropathies. Discuss neuromuscular diseases. Discuss muscular causes of flaccid paralysis. Understand how to differentiate between various types. Flaccid Paralysis Definition: Decreased resistance to passive movement of a muscle through its range of motion. Causes of flaccid paralysis: 1) Cerebral: a) Atonic cerebral palsy b) Down syndrome 2) Cerebellar: a) Acute cerebellitis. b) Ataxic cerebral palsy. 3) Spinal cord : a) Spinal muscle atrophy. b) Poliomyelitis. c) Meningomyelocele. d) Trauma/Tumor/Infection. e) Transverse myelitis. 4) Polyneuropathies: a) Uremia/DM. b) Guillain Barre syndrome. c) Lead poisoning/Drugs. d) B complex deficiency. 5) Neuromuscular: a) Infantile myasthenia gravis. b) Organo-phosphorus poisoning. 6) Myopathies: a) Inflammatory myopathies (viral). b) Muscle dystrophies. Clinical Picture: Hypotonia (infant, child). Hyporeflexia. Tests for hypotonia in infants: 1. Passive tone: shows marked decrease in resistance to stretch. 2. Supine position: frog’s leg position spontaneous movements are lacking. 3. Ventral suspension more marked back curve, his head drops well below 45° from the horizontal and head, legs are hanging limply. 4. Traction response: shoulders don’t raise promptly and there is marked head leg. 5. Vertical suspension the head falls forwards the legs dangle and the infant may slip through the examiner’s hands because of weakness in shoulders.  Case A 6-month-old infant presents to you at the outpatient clinic with his parents complaining of delayed motor development. She didn’t support her head or sit supported up till now. They report these findings since birth and the mother says she had decreased fetal kicks during pregnancy. On examination you find a hypotonic child with frog sign and tongue fasciculations. What’s the relevant points in this vignette? What’s your provisional diagnosis? 3.Spinal cord causes: a) Spinal muscular atrophy p b) Meningomyelocele p c) Trauma/Tumor/Infection s d) Poliomyelitis s e) Transverse myelitis s P: Primary S: Secondary Spinal muscle atrophy : Types: o SMA 1 = severe infantile (Werdnig-Hoffman disease) o SMA 2 = late infancy, slower progression o SMA 3 = chronic juvenile Autosomal recessive a)Spinal muscle atrophy type I (Werdnig-Hoffman) or the severe infantile form: Presentation: in utero (decrease fetal kicks) or in the 1st 24 hours of life. b)Spinal muscle atrophy type II is less progressive presents during late infancy. c) Spinal muscle atrophy type III is the least progressive chronic juvenile form. Generalized hypotonia and weakness with characteristic fasciculation’s (best see in the tongue). Extraocular muscles, sphincters and diaphragm are spared. The heart isn’t involved and the IQ is normal. Cause of death: repeated bronchopneumonia Investigations: NCV, EMG ,Gene study Treatment: Gene therapy + Multidisciplinary team Poliomyelitis (affection of anterior horn cell) (eradicated from most countries except Afghanistan and Pakistan) Strains of wild poliovirus (WPV): Type 1, type 2, and type 3. History: through ancient Egyptian times Transmission: ❖Poliovirus is very contagious and spreads through person-to- person contact. ❖It lives in an infected person’s throat and intestines. ❖It can contaminate food and water in unsanitary conditions C/P: Asymptomatic (most cases) Minor symptoms: Fever, headache (25% of cases) Nonparalytic aseptic meningitis: Headache, neck, back, abdominal and extremity pain, fever, vomiting, stomach pain (1% of cases) Acute flaccid paralysis: muscles become weak, floppy and, finally, completely paralyzed (most often involves the legs, but may less commonly involve the muscles of the head, neck, and diaphragm) (1 in 1000 of cases) Investigations: Stool sample/ Pharynx Then studied by reverse transcription polymerase chain reaction (RT-PCR) or genomic sequencing Treatment: No cure for polio Symptomatic management: 1. Bed rest 2. Analgesics 3. Physiotherapy Prevention: Polio vaccine WHO 2022-2026 plan to declare a free world of POLIO Meningocele / myelomeningocele A birth defect where there is a sac protruding from the spinal cord. The sac includes spinal fluid = meningocele The sac contain neural tissue = myelomeningocele Maternal periconceptional use of folate reduces risk by half. May occur anywhere along the neural axis, but most are lumbosacral. Causes: Associated with hydrocephalus (type II Chiari malformation) or sporadic. C/P: Saclike cystic structure covered by thin, partially epithelized tissue. Low sacral lesions: bowel and bladder incontinence and perineal anesthesia without motor impairment. Mid lumbar lesion: Motor: Flaccid paralysis below the level of the lesion. Sensory: no response to touch and pain. Meningocele / myelomeningocele Investigations: Evaluate renal function Must evaluate for other anomalies prior to surgery Head CT scan for possible hydrocephalus Treatment: Surgical ventriculoperitoneal shunt and correction of defect + physiotherapy  Trauma/ Tumor History + symptoms Pain in back, neck, arms or legs. Muscle weakness or numbness in the arms or legs. Difficulty walking up to paralysis General loss of sensation. Difficulty with urination (incontinence) /Change in bowel habits (loss of bowel control) Investigations: MRI Treatment: Surgical consultation, refer to neurologist and physiotherapist Transverse myelitis Inflammation of spinal cord Causes: Acute post viral demyelination of spinal cord C/p: - Motor: Symmetrical flaccid paralysis bellow level of lesion - Sensory: Dermatomal sensory loss - Autonomic: Labile blood pressure - Bowel / Bladder incontinence Investigations: MRI to exclude other causes Treatment: Steroids 2 mg/kg/day maximum 60 mg, immunosuppressive therapy Prognosis: Good 4- Polyneuropathies: a) Uremia/DM s b) Guillain Barre syndrome s c) Lead poisoning/Drug s d) B complex def s 4) Polyneuropathies: Guillain Barré syndrome: Definition: An acute demyelinating polyneuropathy of the peripheral nervous system characterized by progressive flaccid paralysis. Acquired Autoimmune disorder that affects people of all ages. Cause: -Seventy % of cases post-infectious. (1-3 weeks after an acute infectious process respiratory or GIT). -Recent immunization (swine influenza vaccine, older rabies vaccine). History: Respiratory or GI tract infection (1-3 weeks) prior to onset of weakness. History of recent immunization (rabies) Sudden or progressive weakness over 2-3 days. No fever at the onset of weakness. Examination: - Acute paralysis which is: Ascending Begins in the lower limbs and progressively ascends within hours or days to involve the trunk and upper limbs. Respiratory muscles affection leads to → respiratory failure Symmetrical Reflexes: hyporeflexia or areflexia. - Sensations: Paresthesia in some cases. Proprioception is more affected than pain temperature sensation - Cranial nerves: Bulbar and facial paralysis may occur. - Gradual complete recovery over few or several weeks, in some patients’ paralysis may persist for several months Investigations: Increased protein Normal cells CSF : Raised CSF protein 1-10 g/l (100-1000mg/dl) Without accompanied by pleocytosis Think of HIV ,CMV in case of pleocytosis. ELECTRODIAGNOSTIC TESTS: (EMG, NCV) May be normal Shows demyelination Treatment: Initiate as soon as possible. ICU and mechanical ventilation for cases with respiratory muscles paralysis (lifesaving(. IVIG first choice. Plasmapheresis. Glucocorticoids are not effective in GBS. Conservative management in mild cases.  Case A 10-year-old female presents to the emergency room with a chief complaint of bilateral leg weakness. One week prior, she had a fever of 39°C with vomiting and diarrhea. After 3 days, the vomiting and diarrhea resolved. She was doing well until this morning when she fell while trying to get out of bed and could not stand or walk without support. She has no headache, blurred vision, tinnitus, vertigo, dysphagia, or incontinence. There is no history of toxic ingestion. Her immunizations are up to date. Upon examination Alert Pupils are equal and reactive to light. No facial weakness or asymmetry is present. Neurological examination: Strength 4/5 in the upper extremities, 3/5 in the lower extremities. Deep tendon reflexes 1-2+ in the upper extremities and absent in the lower extremities. Sensation is intact in all extremities. Cerebellar function is normal except for the weakness. No cranial nerve abnormalities are noted. She refuses to walk. What’s the relevant points in this vignette? What’s your provisional diagnosis?  Differential Diagnosis Causes of acute paralysis 1. Guillain Barre syndrome 2. Acute cerebellitis 3. Spinal cord disease e.g.: compressive mass, Transverse myelitis, Poliomyelitis. 4. Myasthenia 5. Botulism 6. Other causes: heavy metal intoxication, tick paralysis, SLE, and other collagen vascular diseases. 5) Neuromuscular: a) Infantile myasthenia gravis b) Organo-phosphorus poisoning s Infantile myasthenia gravis: It is characterized by progressive fatigability along the day of striated muscle. Infants born to myasthenic mothers can have transient neonatal myasthenic syndrome. C/P: 1. Ptosis and extraocular muscle weakness is the earliest and most consistent findings. 2. Dysphagia and facial weakness, and early infant feeding difficulties. 3. Poor head control. 4. Rapid muscle fatigue, especially late in the day. 5. May have respiratory muscle involvement. Investigations: EMG: decremental response to repetitive nerve stimulation, reversed after giving cholinesterase inhibitor (edrophonium) → improvement within seconds. CPK is normal. May have anti-acetylcholine antibodies. Treatment: o Cholinesterase-inhibiting drugs o Severe: long-term prednisone; if no response, intravenous immunoglobulin (Ig), then plasmapheresis.  Case A paediatrician examines an infant with poor sucking and swallowing since birth. The infant is noted to be a floppy baby with poor head control. There is associated ocular ptosis and weak muscles on repeated use. The mother has myasthenia gravis. What’s the relevant points in this vignette? What’s your provisional diagnosis? 6. Myopathies: a) Congenital myopathy p b) Inflammatory myopathies (viral*) s c) Muscle dystrophies p 6) Myopathies: Muscle dystrophies: Duchenne muscle dystrophy: - Genetic defect in dystrophin. - X linked recessive condition. - Clinical picture: Progressive weakness: a. Pelvic girdle - Waddling gait - Secondary inability to walk b. Shoulder girdle - Inability to raise hand above head  By year 2, may have subtle findings of hip-girdle weakness. Gower sign as early as age 3 years but fully developed by age 5–6 years; with hip- waddle gait and lordotic posturing. Calf pseudohypertrophy and wasting of thigh muscles. Most walk without orthotic devices until age 7–10 years, then with devices until 12; once wheelchair- bound, significant acceleration of scoliosis. Progressive into second decade: o Respiratory insufficiency o Repeated pulmonary infections o Pharyngeal weakness (aspiration) o Contractures o Scoliosis (further pulmonary compromise) o Cardiomyopathy is a constant feature. o Intellectual impairment in all; IQ