Case Presentation

Dr. S. Ismat BukhariDr. Fiza Hassan Shah

Age: 4 yearsSex: FemaleWeight: (approx.) 15 kg

Address: DHA ph V

k/c of Spinal Muscular Atrophy

Presenting complaint

• Vomiting 1 episode

• Difficulty breathinghalf hour

• Non-responsive

History of presenting illness

• Vomiting while asleep

• Breathing heavily

• Taken to South city hospital– Neb with Atrovent and Oxygen inhalation given– Referred for PICU care/ventilator support

Birth history

• Delivered at full term gestation

• SVD

• Admitted in NICU due to breathing difficulty

Developmental history

• Deaf since birth

• Over all delayed milestones

• Nutritional historystarted on formula feed initially.currently on liquid / semi-solid diet

• Immunization historyup to date

Past history

• Diagnosed to have Spinal Muscular Atrophy (SMA) by EMG at 9 months of age

• Multiple hospital admission at liaquat national hospital with recurrent chest infections

Family history

• Parents had a consanguineous marriage

• 2 siblings alive, patient is third in birth order of four children.

• 1 sibling died at the age of 9 months (SMA with aspiration pneumonia)

• Drug history no known history of drug allergy

• Personal historyAppetite, sleep, micturation and bowel habits normal

• Social historylive in an owned housefather is the sole earning member

Diagnosis

• Aspiration pneumonia

Examination • Sick child• Pale and toxic looking• Moderate to severely dehydrated• Frothing from mouth• Respiratory distress • Lower limbs had atrophied muscles • GCS: 5/15

H/R 90/minR/R 54/minTemperature 99˚FSaO2 76% at room airBlood Pressure 120/80 mmHg (>95th percentile)

Respiratory Systembilateral bronchospasmDecreased air entry on right (as compared to the left)wheeze and coarse crepts

Cardiovascular systemS1 + S2

Abdomen Soft No visceromegaly

CNSGCS 5/15 (E2, V1, M2)Pupils reactive to lightPlantars mute

Laboratory investigations INVESTIGATION RESULTS

Hb 8.4

PCV 29

TLC 22.6

Platelets 237

RBS 205

Urea 49

Creatinine 0.60

Sodium 142

Potassium 5.9

Chloride 114

Bicarbonate 9.5

PT 15.3

INR 1.0

APTT 30.0

INVESTIGATION RESULT

pH 7.231

PaCO2 13.9

PaO2 144.6

Hct 28.6%

SaO2 98.4%

BE -19.0

HCO3 9.5

URINE D/R

Yellow, turbid

pH - 5.0

Sp. G – 1.020

Protein – 150 mg/dl (+2)

Glucose – 50 mg/dl (+1)

Hb – +2

RBCs – 01 /mpf

Leucocyte – 2/mpf

Epithelial Cells - few

Hyaline casts - occasional

• Catheterization was done and 50 ml of urine was collected in bag immediately( u output 2.5 ml /hr in 4 hours)

• Fluid resuscitation done

Intial treatment

• Inj. Meroneum• Inj. Vancomycin• Inj. Magnesium sulphate• Inj. Bicarbonate• Inj. Solumedrol

• Patient intubated and put on CMV mode

Rate 25/minPEEP 5Vt 120FiO2 75%

• Transfused PCV and FFP

• Patient started dropping heart rate and was not maintaining Oxygen saturation

• Dopamine infusion started

• Inj. Adrenaline given

• CPR done for 10 minutes

Blood C/S• Coagulase negative

staphylococci • Sensitive to Amikacin,

Clindamycin, Co-Trimaxazole, Linezolid, Oflox/Cipro, Teicoplanin, and Vancomycin.

Urine C/S• Leucocytes: 04 /HPF• Culture showed no growth

• Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness.

• The disease generally manifests early in life and is the leading genetic cause of death in infants and toddlers.

• SMA is caused by defects in the Survival Motor Neuron 1 (SMN1) gene that encodes the SMN protein.

• The SMN protein is critical to the health and survival of the nerve cells in the spinal cord responsible for muscle contraction (motor neurons).

• One in 6,000 to one in 10,000 children are born with the disease.

• SMA is an autosomal recessive genetic disease, meaning that a person must have two copies of a defective gene to have the disease.

• SMA carriers do not exhibit SMA symptoms, but do carry a defective copy of the SMN1 gene.

• If both parents are carriers of the SMA gene, then each of their children has a 1 in 4 chance of having the disease. SMA has multiple forms which vary in severity.

• The most severe form (Type I) manifests before 6 months of age and generally results in death before age two.

• Patients with milder forms of SMA may not have symptoms of muscle weakness until much later in childhood or even as adults.

• Mental abilities are unaffected by SMA.

There are several different types of spinal muscular atrophy (SMA) –

the disease is classified according to the age at which symptoms develop and how severe they are.

• In general, SMA affects a person’s physical abilities, such as moving, walking and breathing, but does not affect their mental development.

• It causes the muscles throughout the body to become atrophied, with the muscles closest to the centre of the body, such as the shoulders, buttocks and back (proximal muscles), usually affected first.

Classification of spinal muscular atrophy

SMA is classified according to the age at which symptoms develop and how severe they are:

• Type I – the most severe type, develops in less than six months old

• Type II – less severe than type I, symptoms usually appear around 7-18 months old

• Type III – the mildest type affecting children, symptoms usually appear after 18 months of age

• Type IV – affects adults

Type I SMA (previously known as Werdnig-Hoffmann disease)

• Type I is believed to be the most common form of SMA.

• It causes severe muscle weakness, which can result in problems moving, eating, breathing and swallowing.

• These symptoms are usually apparent at birth or during the first few months of life.

• The babies have their limbs limp and floppy. They are usually unable to raise their head or sit without support.

• Breathing problems can be caused by weakness in the baby’s chest muscles, and difficulty swallowing can be made worse by weakness of the muscles in the tongue and throat.

• Unfortunately, due to the high risk of serious respiratory problems, most children with Type I SMA die before they reach one year old.

Type II SMA• Type II SMA usually develops when an infant is 7–18 months old.

• The symptoms are less severe than Type I, but usually get worse over time.

• Infants with Type II SMA are usually able to sit, but not stand or walk unaided.

• They may also have breathing problems, weakness in their arms and legs, twitching of the muscles in the arms, legs or tongue

• In some cases, deformities of the hands, feet, chest, and joints develop as the muscles atrophy.

• As they grow, many children with Type II SMA develop scoliosis.

• A child with Type II SMA has weak respiratory muscles which can make it difficult for them to cough effectively. This can make them more vulnerable to respiratory infections.

• Although Type II SMA may shorten life expectancy, improvements in care standards mean that the majority of people can live long, fulfilling and productive lives.

Type III SMA (previously known as Kugelberg-Welander disease)

• Type III is the mildest form of childhood SMA.

• Symptoms of muscle weakness and floppiness usually appear after 18 months of age, but this is very variable and sometimes the symptoms may not appear until late childhood or early adulthood.

• Most children with Type III SMA are able to stand unaided and walk, although many find walking or getting up from a sitting position difficult.

• They may also have balance problems, an abnormal way of walking, difficulty running or climbing steps, a slight tremor of their fingers.

• The muscles of children with Type III SMA will become weaker, resulting in some children losing the ability to walk when they get older.

• Breathing and swallowing difficulties are very rare and the condition doesn't usually affect life expectancy.

Type IV (Adult-onset)

• Type IV SMA is a less common form that begins in adulthood.

• The symptoms are usually mild to moderate.

• Symptoms include muscle weakness in the hands and feet, difficulty walking, muscle tremor and twitching.

• Type IV SMA doesn't affect life expectancy.

Adult-onset SMA

• SMA that develops in adults (type IV) is linked to the SMN1 gene in some cases, although not all cases are thought to be inherited.

• In cases where adult SMA is passed on, the way it's inherited can be different from the types I, II and III.

• For example, it's sometimes possible for someone to develop adult-onset SMA if only one parent has the defective gene.

• In Kennedy's syndrome, the condition is passed on by the mother and only affects male children, although female children can become carriers.

Rarer typesSpinal muscular atrophy with respiratory distress

• A type of SMA called spinal muscular atrophy with respiratory distress (SMARD) is inherited in the same way as types I, II and III, but it's not related to a problem with the SMN1 gene.

• Instead, a problem with a gene called IGHMBP2 is responsible for the condition.

• Spinal muscular atrophy with respiratory distress (SMARD) is a very rare form of SMA that's usually diagnosed before a baby is six months old.

• Infants with SMARD have very weak breathing muscles, resulting in severe breathing difficulties that are often fatal.

• Like Type I SMA, most children with SMARD die before their first birthday.

Kennedy's syndrome / Spinobulbar muscular atrophy (SBMA)

• A rare type of adult SMA.

• SBMA only affects men.

• It usually develops very gradually between the ages of 20 and 40, although rarely, it can affect teenage boys or sometimes only become obvious after 40.

• The initial symptoms of Kennedy’s syndrome may include tremor of the hands, muscle cramps on exertion, muscle twitches and weakness of the muscles of the limbs.

• As the condition progresses, it may cause other symptoms, including weakness of the facial and tongue muscles, which may cause dysphagia and slurred speech and recurring pneumonia.

• Kennedy's syndrome doesn't usually affect life expectancy.

TESTING FOR SMA

• When there is a family history of the condition, genetic testing may be recommended.

• Chorionic villus sampling (CVS)

• Amniocentesis.

Diagnosing SMA after birth• If SMA is not diagnosed before birth and a child has typical symptoms

of SMA, there are a number of tests that can check for the condition.

• Most cases can be confirmed with genetic testing.

• A physical examination will also be carried out to look for signs, such as:– muscle weakness and wastage– reduced or absent tendon reflexes– twitching of individual muscle fibres

• If a diagnosis is not entirely certain, several other tests – such as an electromyography test or a muscle biopsy – may be carried out.

Electromyography• Due to the availability of genetic tests, EMG is

now very rarely carried out in typical cases of SMA.

Muscle biopsy• During a muscle biopsy, a small sample of muscle tissue is

taken for analysis.

• The sample, which is usually taken from the thigh, is examined under a microscope.

• However, with the wide availability of genetic testing, muscle biopsies are rarely done nowadays to diagnose SMA.

Treatment and support

• There is no cure for SMA, but treatment and support can help to manage the condition.

• Depending on its severity, treatment may involve:– exercises and equipment to improve mobility and

breathing– feeding tubes and nutrition advice– bracing or surgery to treat scoliosis

Exercise

• For someone with SMA, exercise is very important for maintaining circulation, preventing joint stiffness and improving flexibility and range of movement.

• The amount of exercise that someone with SMA is able to do will largely depend on the severity of their condition, but most healthcare professionals recommend people with SMA should do as much exercise as they are comfortable with.

• The exercises may incorporate elements of hydrotherapy and games for young children.

Assistive equipment

• If someone with SMA has difficulty moving, an occupational therapist will be able to offer advice and support.

• For example, they can provide advice about equipment, such as walking frames and motorized wheelchairs.

Nutrition and feeding

• It's important for people with SMA, especially children, to get appropriate nutrition to avoid problems like dehydration and ensure healthy development.

• However, this can be difficult because some people with SMA have problems feeding and swallowing.

• However, if feeding and swallowing problems are severe, a feeding tube may be required.

Breathing support• Many people with SMA experience potentially fatal breathing problems

caused by a weakening of the respiratory muscles, but there are a number of treatments which can help reduce this risk.

• Breathing exercises are sometimes used to help reduce the risk of problems developing from respiratory tract infections and improve difficulties coughing.

• A special suction machine may also be used to help with any difficulties clearing the throat.

• For people with SMA – as well as those in frequent contact with someone who has SMA – immunizations against respiratory tract infections, such as flu and pneumonia, are sometimes recommended due to the risk of serious complications.

Spine problems• For children with SMA, the risk of developing scoliosis is high due to the

progressive weakness in the muscles that support the spine. There are various treatments for scoliosis in children, including back braces and surgery.

• A specially made back brace can be used to help support the back and encourage the spine to grow correctly. However, this cannot correct the curve.

• Spinal fusion is the only way to correct the problem permanently. This is where the spine is straightened using metal hooks and rods, before being fused into place using bone grafts.